{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T01:41:29Z","timestamp":1793670089490,"version":"4.5.1"},"reference-count":187,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,11,12]],"date-time":"2018-11-12T00:00:00Z","timestamp":1541980800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001317","name":"Swansea University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001317","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Med"],"published-print":{"date-parts":[[2019,1]]},"DOI":"10.1007\/s00109-018-1714-x","type":"journal-article","created":{"date-parts":[[2018,11,12]],"date-time":"2018-11-12T00:28:42Z","timestamp":1541982522000},"page":"1-17","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":110,"title":["ALMS1 and Alstr\u00f6m syndrome: a recessive form of metabolic, neurosensory and cardiac deficits"],"prefix":"10.1007","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8670-6236","authenticated-orcid":false,"given":"Tom","family":"Hearn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,11,12]]},"reference":[{"key":"1714_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1600-0447.1959.tb07559.x","volume":"34","author":"CH Alstr\u00f6m","year":"1959","unstructured":"Alstr\u00f6m CH, Hallgren B, Nilsson LB, Asander H (1959) Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 34:1\u201335","journal-title":"Acta Psychiatr Neurol Scand"},{"key":"1714_CR2","doi-asserted-by":"publisher","first-page":"225","DOI":"10.2174\/138920211795677912","volume":"12","author":"JD Marshall","year":"2011","unstructured":"Marshall JD, Maffei P, Collin GB, Naggert JK (2011) Alstrom syndrome: genetics and clinical overview. Curr Genomics 12:225\u2013235","journal-title":"Curr Genomics"},{"key":"1714_CR3","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1038\/sj.ejhg.5201933","volume":"15","author":"JD Marshall","year":"2007","unstructured":"Marshall JD, Beck S, Maffei P, Naggert JK (2007) Alstrom Syndrome. Eur J Hum Genet 15:1193\u20131202","journal-title":"Eur J Hum Genet"},{"key":"1714_CR4","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1001\/archinte.165.6.675","volume":"165","author":"JD Marshall","year":"2005","unstructured":"Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM (2005) New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165:675\u2013683","journal-title":"Arch Intern Med"},{"key":"1714_CR5","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1002\/ppul.23607","volume":"52","author":"C Boerwinkle","year":"2016","unstructured":"Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M (2016) Respiratory manifestations in 38 patients with Alstrom syndrome. Pediatr Pulmonol 52:487\u2013493","journal-title":"Pediatr Pulmonol"},{"key":"1714_CR6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/jhg.2014.85","volume":"60","author":"A Ozanturk","year":"2015","unstructured":"Ozanturk A, Marshall JD, Collin GB, Duzenli S, Marshall RP, Candan S, Tos T, Esen I, Taskesen M, Cayir A, Ozturk S, Ustun I, Ataman E, Karaca E, Ozdemir TR, Erol I, Eroglu FK, Torun D, Pariltay E, Yilmaz-Gulec E, Atabek ME, Elcioglu N, Satman I, Moller C, Muller J, Naggert JK, Ozgul RK (2015) The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey. J Hum Genet 60:1\u20139","journal-title":"J Hum Genet"},{"key":"1714_CR7","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1016\/j.ymgme.2017.05.017","volume":"121","author":"A Brofferio","year":"2017","unstructured":"Brofferio A, Sachdev V, Hannoush H, Marshall JD, Naggert JK, Sidenko S, Noreuil A, Sirajuddin A, Bryant J, Han JC, Arai AE, Gahl WA, Gunay-Aygun M (2017) Characteristics of cardiomyopathy in Alstrom syndrome: prospective single-center data on 38 patients. Mol Genet Metab 121:336\u2013343","journal-title":"Mol Genet Metab"},{"key":"1714_CR8","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1038\/nature08532","volume":"462","author":"S O'Rahilly","year":"2009","unstructured":"O'Rahilly S (2009) Human genetics illuminates the paths to metabolic disease. Nature 462:307\u2013314","journal-title":"Nature"},{"key":"1714_CR9","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/nrendo.2010.210","volume":"7","author":"D Girard","year":"2011","unstructured":"Girard D, Petrovsky N (2011) Alstrom syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol 7:77\u201388","journal-title":"Nat Rev Endocrinol"},{"key":"1714_CR10","unstructured":"Orphanet (2018) The portal for rare diseases and orphan drugs.\u00a0 http:\/\/www.orpha.net . Accessed 16 Oct 2018"},{"key":"1714_CR11","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1038\/ng867","volume":"31","author":"GB Collin","year":"2002","unstructured":"Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstr\u00f6m syndrome. Nat Genet 31:74\u201378","journal-title":"Nat Genet"},{"key":"1714_CR12","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1038\/ng874","volume":"31","author":"T Hearn","year":"2002","unstructured":"Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstr\u00f6m syndrome. Nat Genet 31:79\u201383","journal-title":"Nat Genet"},{"key":"1714_CR13","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1002\/humu.23233","volume":"38","author":"D Astuti","year":"2017","unstructured":"Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, de Heredia ML, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG (2017) Monogenic diabetes syndromes: locus-specific databases for Alstrom, Wolfram and Thiamine-responsive megaloblastic anaemia. Hum Mutat 38:764\u2013777","journal-title":"Hum Mutat"},{"key":"1714_CR14","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1002\/humu.22796","volume":"36","author":"JD Marshall","year":"2015","unstructured":"Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK (2015) Alstrom syndrome: mutation spectrum of ALMS1. Hum Mutat 36:660\u2013668","journal-title":"Hum Mutat"},{"key":"1714_CR15","doi-asserted-by":"publisher","first-page":"3416","DOI":"10.1038\/ncomms4416","volume":"5","author":"LT Shenje","year":"2014","unstructured":"Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP (2014) Mutations in Alstrom protein impair terminal differentiation of cardiomyocytes. Nat Commun 5:3416","journal-title":"Nat Commun"},{"key":"1714_CR16","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1016\/j.ejmg.2014.06.004","volume":"57","author":"JJ Louw","year":"2014","unstructured":"Louw JJ, Corveleyn A, Jia Y, Iqbal S, Boshoff D, Gewillig M, Peeters H, Moerman P, Devriendt K (2014) Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. Eur J Med Genet 57:532\u2013535","journal-title":"Eur J Med Genet"},{"key":"1714_CR17","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1242\/dev.132910","volume":"143","author":"MJ Foglia","year":"2016","unstructured":"Foglia MJ, Poss KD (2016) Building and re-building the heart by cardiomyocyte proliferation. Development 143:729\u2013740","journal-title":"Development"},{"key":"1714_CR18","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1038\/nature02166","volume":"426","author":"JS Andersen","year":"2003","unstructured":"Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (2003) Proteomic characterization of the human centrosome by protein correlation profiling. Nature 426:570\u2013574","journal-title":"Nature"},{"key":"1714_CR19","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.2337\/diabetes.54.5.1581","volume":"54","author":"T Hearn","year":"2005","unstructured":"Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI (2005) Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 54:1581\u20131587","journal-title":"Diabetes"},{"key":"1714_CR20","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1038\/nrm.2017.127","volume":"19","author":"EA Nigg","year":"2018","unstructured":"Nigg EA, Holland AJ (2018) Once and only once: mechanisms of centriole duplication and their deregulation in disease. Nat Rev Mol Cell Biol 19:297\u2013312","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1714_CR21","doi-asserted-by":"publisher","first-page":"3617","DOI":"10.1091\/mbc.e10-03-0246","volume":"21","author":"VJ Knorz","year":"2010","unstructured":"Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T (2010) Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell 21:3617\u20133629","journal-title":"Mol Biol Cell"},{"key":"1714_CR22","doi-asserted-by":"publisher","first-page":"R525","DOI":"10.1016\/j.cub.2004.06.045","volume":"14","author":"MA Welte","year":"2014","unstructured":"Welte MA (2014) Bidirectional transport along microtubules. Curr Biol 14:R525\u2013R537","journal-title":"Curr Biol"},{"key":"1714_CR23","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1016\/j.cell.2009.10.036","volume":"139","author":"EA Nigg","year":"2009","unstructured":"Nigg EA, Raff JW (2009) Centrioles, centrosomes, and cilia in health and disease. Cell 139:663\u2013678","journal-title":"Cell"},{"key":"1714_CR24","doi-asserted-by":"publisher","first-page":"1944","DOI":"10.1016\/j.cub.2012.08.022","volume":"22","author":"H Hehnly","year":"2012","unstructured":"Hehnly H, Chen C-T, Powers Christine M, Liu H-L, Doxsey S (2012) The centrosome regulates the Rab11-dependent recycling endosome pathway at appendages of the mother centriole. Curr Biol 22:1944\u20131950","journal-title":"Curr Biol"},{"key":"1714_CR25","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1038\/ncb3285","volume":"18","author":"F Farina","year":"2016","unstructured":"Farina F, Gaillard J, Guerin C, Coute Y, Sillibourne J, Blanchoin L, Thery M (2016) The centrosome is an actin-organizing centre. Nat Cell Biol 18:65\u201375","journal-title":"Nat Cell Biol"},{"key":"1714_CR26","doi-asserted-by":"publisher","first-page":"20130463","DOI":"10.1098\/rstb.2013.0463","volume":"369","author":"JC Stinchcombe","year":"2014","unstructured":"Stinchcombe JC, Griffiths GM (2014) Communication, the centrosome and the immunological synapse. Philos Trans R Soc Lond Ser B Biol Sci 369:20130463","journal-title":"Philos Trans R Soc Lond Ser B Biol Sci"},{"key":"1714_CR27","doi-asserted-by":"publisher","first-page":"2124","DOI":"10.1080\/15384101.2016.1196306","volume":"15","author":"SM Vora","year":"2016","unstructured":"Vora SM, Phillips BT (2016) The benefits of local depletion: the centrosome as a scaffold for ubiquitin-proteasome-mediated degradation. Cell Cycle 15:2124\u20132134","journal-title":"Cell Cycle"},{"key":"1714_CR28","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1007\/s10577-015-9503-7","volume":"24","author":"LI Mullee","year":"2016","unstructured":"Mullee LI, Morrison CG (2016) Centrosomes in the DNA damage response - the hub outside the centre. Chromosom Res 24:35\u201351","journal-title":"Chromosom Res"},{"key":"1714_CR29","doi-asserted-by":"publisher","first-page":"20130464","DOI":"10.1098\/rstb.2013.0464","volume":"369","author":"C Arquint","year":"2014","unstructured":"Arquint C, Gabryjonczyk A-M, Nigg EA (2014) Centrosomes as signalling centres. Philos Trans R Soc Lond Ser B Biol Sci 369:20130464","journal-title":"Philos Trans R Soc Lond Ser B Biol Sci"},{"key":"1714_CR30","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1530\/JME-15-0090","volume":"55","author":"JH Chen","year":"2015","unstructured":"Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C, Savage DB, O'Rahilly S, Semple RK, Barroso I (2015) Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol 55:147\u2013158","journal-title":"J Mol Endocrinol"},{"key":"1714_CR31","doi-asserted-by":"publisher","first-page":"925","DOI":"10.2337\/db10-1334","volume":"60","author":"I Huang-Doran","year":"2011","unstructured":"Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, YCL T, Szekeres F, Krook A, Nolan JJ, O\u2019Driscoll M, Bober M, O\u2019Rahilly S, Jackson AP, Semple RK (2011) Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 60:925\u2013935","journal-title":"Diabetes"},{"key":"1714_CR32","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1016\/j.ajhg.2013.10.025","volume":"93","author":"A Shalata","year":"2013","unstructured":"Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA (2013) Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice. Am J Hum Genet 93:1061\u20131071","journal-title":"Am J Hum Genet"},{"key":"1714_CR33","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1038\/nrm3085","volume":"12","author":"H Ishikawa","year":"2011","unstructured":"Ishikawa H, Marshall WF (2011) Ciliogenesis: building the cell's antenna. Nat Rev Mol Cell Biol 12:222\u2013234","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1714_CR34","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.ceb.2012.10.011","volume":"25","author":"A Benmerah","year":"2014","unstructured":"Benmerah A (2014) The ciliary pocket. Curr Opin Cell Biol 25:78\u201384","journal-title":"Curr Opin Cell Biol"},{"key":"1714_CR35","doi-asserted-by":"publisher","first-page":"a028134","DOI":"10.1101\/cshperspect.a028134","volume":"9","author":"FR Garcia-Gonzalo","year":"2017","unstructured":"Garcia-Gonzalo FR, Reiter JF (2017) Open sesame: how transition fibers and the transition zone control ciliary composition. Cold Spring Harb Perspect Biol 9:a028134","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1714_CR36","doi-asserted-by":"publisher","first-page":"4039","DOI":"10.1242\/jcs.175687","volume":"128","author":"RS Molday","year":"2015","unstructured":"Molday RS, Moritz OL (2015) Photoreceptors at a glance. J Cell Sci 128:4039\u20134045","journal-title":"J Cell Sci"},{"key":"1714_CR37","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1083\/jcb.201001138","volume":"190","author":"M Schwander","year":"2010","unstructured":"Schwander M, Kachar B, Muller U (2010) The cell biology of hearing. J Cell Biol 190:9\u201320","journal-title":"J Cell Biol"},{"key":"1714_CR38","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1038\/ng.2007.54","volume":"40","author":"C Jones","year":"2008","unstructured":"Jones C, Roper VC, Foucher I, Qian D, Banizs B, Petit C, Yoder BK, Chen P (2008) Ciliary proteins link basal body polarization to planar cell polarity regulation. Nat Genet 40:69\u201377","journal-title":"Nat Genet"},{"key":"1714_CR39","doi-asserted-by":"publisher","first-page":"62","DOI":"10.4161\/org.28910","volume":"10","author":"AM Fry","year":"2014","unstructured":"Fry AM, Leaper MJ, Bayliss R (2014) The primary cilium: guardian of organ development and homeostasis. Organogenesis 10:62\u201368","journal-title":"Organogenesis"},{"key":"1714_CR40","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1017\/S0007114516002282","volume":"116","author":"EC Mariman","year":"2016","unstructured":"Mariman EC, Vink RG, Roumans NJ, Bouwman FG, Stumpel CT, Aller EE, van Baak MA, Wang P (2016) The cilium: a cellular antenna with an influence on obesity risk. Br J Nutr 116:576\u2013592","journal-title":"Br J Nutr"},{"key":"1714_CR41","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.cmet.2014.11.019","volume":"21","author":"EC Oh","year":"2015","unstructured":"Oh EC, Vasanth S, Katsanis N (2015) Metabolic regulation and energy homeostasis through the primary cilium. Cell Metab 21:21\u201331","journal-title":"Cell Metab"},{"key":"1714_CR42","doi-asserted-by":"publisher","first-page":"a028175","DOI":"10.1101\/cshperspect.a028175","volume":"9","author":"F Bangs","year":"2017","unstructured":"Bangs F, Anderson KV (2017) Primary cilia and mammalian hedgehog signaling. Cold Spring Harb Perspect Biol 9:a028175","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1714_CR43","doi-asserted-by":"publisher","first-page":"1861","DOI":"10.1016\/j.cub.2005.09.012","volume":"15","author":"L Schneider","year":"2005","unstructured":"Schneider L, Clement CA, Teilmann SC, Pazour GJ, Hoffmann EK, Satir P, Christensen ST (2005) PDGFR\u03b1\u03b1 signaling is regulated through the primary cilium in fibroblasts. Curr Biol 15:1861\u20131866","journal-title":"Curr Biol"},{"key":"1714_CR44","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1016\/j.devcel.2013.07.014","volume":"26","author":"C Yeh","year":"2013","unstructured":"Yeh C, Li A, Chuang J-Z, Saito M, C\u00e1ceres A, Sung C-H (2013) IGF-1 activates a cilium-localized noncanonical G\u03b2\u03b3 signaling pathway that regulates cell-cycle progression. Dev Cell 26:358\u2013368","journal-title":"Dev Cell"},{"key":"1714_CR45","doi-asserted-by":"publisher","first-page":"2760","DOI":"10.1242\/jcs.046276","volume":"122","author":"D Zhu","year":"2009","unstructured":"Zhu D, Shi S, Wang H, Liao K (2009) Growth arrest induces primary-cilium formation and sensitizes IGF-1-receptor signaling during differentiation induction of 3T3-L1 preadipocytes. J Cell Sci 122:2760\u20132768","journal-title":"J Cell Sci"},{"key":"1714_CR46","doi-asserted-by":"publisher","first-page":"a028167","DOI":"10.1101\/cshperspect.a028167","volume":"9","author":"ST Christensen","year":"2017","unstructured":"Christensen ST, Morthorst SK, Mogensen JB, Pedersen LB (2017) Primary cilia and coordination of receptor tyrosine kinase (RTK) and transforming growth factor beta (TGF-beta) signaling. Cold Spring Harb Perspect Biol 9:a028167","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1714_CR47","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.ceb.2016.02.008","volume":"39","author":"KI Hilgendorf","year":"2016","unstructured":"Hilgendorf KI, Johnson CT, Jackson PK (2016) The primary cilium as a cellular receiver: organizing ciliary GPCR signaling. Curr Opin Cell Biol 39:84\u201392","journal-title":"Curr Opin Cell Biol"},{"key":"1714_CR48","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1016\/j.ceb.2012.06.002","volume":"24","author":"T Seeger-Nukpezah","year":"2012","unstructured":"Seeger-Nukpezah T, Golemis EA (2012) The extracellular matrix and ciliary signaling. Curr Opin Cell Biol 24:652\u2013661","journal-title":"Curr Opin Cell Biol"},{"key":"1714_CR49","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.semcdb.2017.08.036","volume":"71","author":"M Spasic","year":"2017","unstructured":"Spasic M, Jacobs CR (2017) Primary cilia: cell and molecular mechanosensors directing whole tissue function. Semin Cell Dev Biol 71:42\u201352","journal-title":"Semin Cell Dev Biol"},{"key":"1714_CR50","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1038\/nature17426","volume":"531","author":"M Delling","year":"2016","unstructured":"Delling M, Indzhykulian AA, Liu X, Li Y, Xie T, Corey DP, Clapham DE (2016) Primary cilia are not calcium-responsive mechanosensors. Nature 531:656\u2013660","journal-title":"Nature"},{"key":"1714_CR51","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.tcb.2016.08.002","volume":"27","author":"JJ Malicki","year":"2016","unstructured":"Malicki JJ, Johnson CA (2016) The cilium: cellular antenna and central processing unit. Trends Cell Biol 27:126\u2013140","journal-title":"Trends Cell Biol"},{"key":"1714_CR52","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1038\/nrm.2017.60","volume":"18","author":"JF Reiter","year":"2017","unstructured":"Reiter JF, Leroux MR (2017) Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol 18:533\u2013547","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1714_CR53","doi-asserted-by":"publisher","first-page":"a028191","DOI":"10.1101\/cshperspect.a028191","volume":"9","author":"DA Braun","year":"2017","unstructured":"Braun DA, Hildebrandt F (2017) Ciliopathies. Cold Spring Harb Perspect Biol 9:a028191","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1714_CR54","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/path.4843","volume":"241","author":"HM Mitchison","year":"2017","unstructured":"Mitchison HM, Valente EM (2017) Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol 241:294\u2013309","journal-title":"J Pathol"},{"key":"1714_CR55","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.cell.2011.09.014","volume":"147","author":"G Novarino","year":"2011","unstructured":"Novarino G, Akizu N, Gleeson JG (2011) Modeling human disease in humans: the ciliopathies. Cell 147:70\u201379","journal-title":"Cell"},{"key":"1714_CR56","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1093\/hmg\/ddq493","volume":"20","author":"D Jagger","year":"2010","unstructured":"Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J, Naggert J, Forge A (2010) Alstrom syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet 20:466\u2013481","journal-title":"Hum Mol Genet"},{"key":"1714_CR57","doi-asserted-by":"publisher","first-page":"e8","DOI":"10.1371\/journal.pgen.0030008","volume":"3","author":"G Li","year":"2007","unstructured":"Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R (2007) A role for Alstrom syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 3:e8","journal-title":"PLoS Genet"},{"key":"1714_CR58","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/dneu.22031","volume":"73","author":"D Heydet","year":"2013","unstructured":"Heydet D, Chen LX, Larter CZ, Inglis C, Silverman MA, Farrell GC, Leroux MR (2013) A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice. Dev Neurobiol 73:1\u201313","journal-title":"Dev Neurobiol"},{"key":"1714_CR59","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1083\/jcb.200707181","volume":"179","author":"S Graser","year":"2007","unstructured":"Graser S, Stierhof YD, Lavoie SB, Gassner OS, Lamla S, Le Clech M, Nigg EA (2007) Cep164, a novel centriole appendage protein required for primary cilium formation. J Cell Biol 179:321\u2013330","journal-title":"J Cell Biol"},{"key":"1714_CR60","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1038\/ejhg.2010.207","volume":"19","author":"I Pereiro","year":"2011","unstructured":"Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Pineiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL (2011) Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome. Eur J Hum Genet 19:485\u2013488","journal-title":"Eur J Hum Genet"},{"key":"1714_CR61","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","volume":"129","author":"MV Nachury","year":"2007","unstructured":"Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201\u20131213","journal-title":"Cell"},{"key":"1714_CR62","doi-asserted-by":"publisher","first-page":"1488","DOI":"10.1073\/pnas.0910268107","volume":"107","author":"S Seo","year":"2010","unstructured":"Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC (2010) BBS6, BBS10, and BBS12 form a complex with CCT\/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A 107:1488\u20131493","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1714_CR63","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1038\/ncb2560","volume":"14","author":"Q Wei","year":"2012","unstructured":"Wei Q, Zhang Y, Li Y, Zhang Q, Ling K, Hu J (2012) The BBSome controls IFT assembly and turnaround in cilia. Nat Cell Biol 14:950\u2013957","journal-title":"Nat Cell Biol"},{"key":"1714_CR64","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1083\/jcb.200909183","volume":"187","author":"KF Lechtreck","year":"2009","unstructured":"Lechtreck KF, Johnson EC, Sakai T, Cochran D, Ballif BA, Rush J, Pazour GJ, Ikebe M, Witman GB (2009) The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella. J Cell Biol 187:1117\u20131132","journal-title":"J Cell Biol"},{"key":"1714_CR65","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1016\/j.cell.2010.05.015","volume":"141","author":"H Jin","year":"2010","unstructured":"Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF, Nachury MV (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141:1208\u20131219","journal-title":"Cell"},{"key":"1714_CR66","doi-asserted-by":"publisher","first-page":"e1005311","DOI":"10.1371\/journal.pgen.1005311","volume":"11","author":"RD Starks","year":"2015","unstructured":"Starks RD, Beyer AM, Guo DF, Boland L, Zhang Q, Sheffield VC, Rahmouni K (2015) Regulation of insulin receptor trafficking by Bardet Biedl syndrome proteins. PLoS Genet 11:e1005311","journal-title":"PLoS Genet"},{"key":"1714_CR67","doi-asserted-by":"publisher","first-page":"e1005890","DOI":"10.1371\/journal.pgen.1005890","volume":"12","author":"D-F Guo","year":"2016","unstructured":"Guo D-F, Cui H, Zhang Q, Morgan DA, Thedens DR, Nishimura D, Grobe JL, Sheffield VC, Rahmouni K (2016) The BBSome controls energy homeostasis by mediating the transport of the leptin receptor to the plasma membrane. PLoS Genet 12:e1005890","journal-title":"PLoS Genet"},{"key":"1714_CR68","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/S0092-8674(00)81104-6","volume":"85","author":"PW Kleyn","year":"1996","unstructured":"Kleyn PW, Fan W, Kovats SG, Lee JJ, Pulido JC, Wu Y, Berkemeier LR, Misumi DJ, Holmgren L, Charlat O, Woolf EA, Tayber O, Brody T, Shu P, Hawkins F, Kennedy B, Baldini L, Ebeling C, Alperin GD, Deeds J, Lakey ND, Culpepper J, Chen H, Glucksmann-Kuis MA, Carlson GA, Duyk GM, Moore KJ (1996) Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell 85:281\u2013290","journal-title":"Cell"},{"key":"1714_CR69","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1038\/380534a0","volume":"380","author":"K Noben-Trauth","year":"1996","unstructured":"Noben-Trauth K, Naggert JK, North MA, Nishina PM (1996) A candidate gene for the mouse mutation tubby. Nature 380:534\u2013538","journal-title":"Nature"},{"key":"1714_CR70","doi-asserted-by":"publisher","first-page":"e1003814","DOI":"10.1371\/journal.pgen.1003814","volume":"9","author":"J Park","year":"2013","unstructured":"Park J, Lee J, Shim J, Han W, Lee J, Bae YC, Chung YD, Kim CH, Moon SJ (2013) dTULP, the Drosophila melanogaster homolog of tubby, regulates transient receptor potential channel localization in cilia. PLoS Genet 9:e1003814","journal-title":"PLoS Genet"},{"key":"1714_CR71","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/2046-2530-1-21","volume":"1","author":"X Sun","year":"2012","unstructured":"Sun X, Haley J, Bulgakov O, Cai X, McGinnis J, Li T (2012) Tubby is required for trafficking G protein-coupled receptors to neuronal cilia. Cilia 1:21","journal-title":"Cilia"},{"key":"1714_CR72","doi-asserted-by":"publisher","first-page":"2041","DOI":"10.1126\/science.1061233","volume":"292","author":"S Santagata","year":"2001","unstructured":"Santagata S, Boggon TJ, Baird CL, Gomez CA, Zhao J, Shan WS, Myszka DG, Shapiro L (2001) G-protein signaling through tubby proteins. Science 292:2041\u20132050","journal-title":"Science"},{"key":"1714_CR73","doi-asserted-by":"publisher","first-page":"e109540","DOI":"10.1371\/journal.pone.0109540","volume":"9","author":"F Favaretto","year":"2014","unstructured":"Favaretto F, Milan G, Collin GB, Marshall JD, Stasi F, Maffei P, Vettor R, Naggert JK (2014) GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT\/GT, a mouse model for obesity and insulin resistance. PLoS One 9:e109540","journal-title":"PLoS One"},{"key":"1714_CR74","doi-asserted-by":"publisher","first-page":"2407","DOI":"10.1242\/jcs.130344","volume":"127","author":"CC Leitch","year":"2014","unstructured":"Leitch CC, Lodh S, Prieto-Echague V, Badano JL, Zaghloul NA (2014) Basal body proteins regulate notch signaling through endosomal trafficking. J Cell Sci 127:2407\u20132419","journal-title":"J Cell Sci"},{"key":"1714_CR75","doi-asserted-by":"publisher","first-page":"e19081","DOI":"10.1371\/journal.pone.0019081","volume":"6","author":"E Zulato","year":"2011","unstructured":"Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R (2011) ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. PLoS One 6:e19081","journal-title":"PLoS One"},{"key":"1714_CR76","doi-asserted-by":"publisher","first-page":"e37925","DOI":"10.1371\/journal.pone.0037925","volume":"7","author":"GB Collin","year":"2012","unstructured":"Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK (2012) The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway. PLoS One 7:e37925","journal-title":"PLoS One"},{"key":"1714_CR77","doi-asserted-by":"publisher","first-page":"M111.011767","DOI":"10.1074\/mcp.M111.011767","volume":"11","author":"A Moller","year":"2012","unstructured":"Moller A, Xie SQ, Hosp F, Lang B, Phatnani HP, James S, Ramirez F, Collin GB, Naggert JK, Babu MM, Greenleaf AL, Selbach M, Pombo A (2012) Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease. Mol Cell Proteomics 11:M111.011767","journal-title":"Mol Cell Proteomics"},{"key":"1714_CR78","doi-asserted-by":"publisher","first-page":"7857","DOI":"10.1038\/ncomms8857","volume":"6","author":"J Guo","year":"2015","unstructured":"Guo J, Higginbotham H, Li J, Nichols J, Hirt J, Ghukasyan V, Anton ES (2015) Developmental disruptions underlying brain abnormalities in ciliopathies. Nat Commun 6:7857","journal-title":"Nat Commun"},{"key":"1714_CR79","doi-asserted-by":"publisher","first-page":"1554","DOI":"10.1038\/ijo.2010.92","volume":"34","author":"I Huang-Doran","year":"2010","unstructured":"Huang-Doran I, Semple RK (2010) Knockdown of the Alstrom syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action. Int J Obes 34:1554\u20131558","journal-title":"Int J Obes"},{"key":"1714_CR80","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1093\/hmg\/ddv447","volume":"25","author":"S Lodh","year":"2016","unstructured":"Lodh S, Hostelley TL, Leitch CC, O'Hare EA, Zaghloul NA (2016) Differential effects on beta-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. Hum Mol Genet 25:57\u201368","journal-title":"Hum Mol Genet"},{"key":"1714_CR81","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1042\/CS20160469","volume":"131","author":"L Poekes","year":"2017","unstructured":"Poekes L, Legry V, Schakman O, Detrembleur C, Bol A, Horsmans Y, Farrell GC, Leclercq IA (2017) Defective adaptive thermogenesis contributes to metabolic syndrome and liver steatosis in obese mice. Clin Sci 131:285\u2013296","journal-title":"Clin Sci"},{"key":"1714_CR82","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1210\/me.2005-0494","volume":"20","author":"T Arsov","year":"2006","unstructured":"Arsov T, Silva DG, O\u2019Bryan MK, Sainsbury A, Lee NJ, Kennedy C, Manji SS, Nelms K, Liu C, Vinuesa CG, de Kretser DM, Goodnow CC, Petrovsky N (2006) Fat Aussie - a new Alstrom syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis. Mol Endocrinol 20:1610\u20131622","journal-title":"Mol Endocrinol"},{"key":"1714_CR83","doi-asserted-by":"publisher","first-page":"5424","DOI":"10.1038\/onc.2013.494","volume":"33","author":"S Yan","year":"2014","unstructured":"Yan S, Qiu L, Ma K, Zhang X, Zhao Y, Zhang J, Li X, Hao X, Li Z (2014) FATS is an E2-independent ubiquitin ligase that stabilizes p53 and promotes its activation in response to DNA damage. Oncogene 33:5424\u20135433","journal-title":"Oncogene"},{"key":"1714_CR84","doi-asserted-by":"publisher","first-page":"2501","DOI":"10.1242\/jcs.186338","volume":"129","author":"CW Chang","year":"2016","unstructured":"Chang CW, Hsu WB, Tsai JJ, Tang CC, Tang TK (2016) CEP295 interacts with microtubules and is required for centriole elongation. J Cell Sci 129:2501\u20132513","journal-title":"J Cell Sci"},{"key":"1714_CR85","doi-asserted-by":"publisher","first-page":"12567","DOI":"10.1038\/ncomms12567","volume":"7","author":"Y Tsuchiya","year":"2016","unstructured":"Tsuchiya Y, Yoshiba S, Gupta A, Watanabe K, Kitagawa D (2016) Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole. Nat Commun 7:12567","journal-title":"Nat Commun"},{"key":"1714_CR86","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1016\/j.celrep.2014.07.022","volume":"8","author":"D Izquierdo","year":"2014","unstructured":"Izquierdo D, Wang WJ, Uryu K, Tsou MF (2014) Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion. Cell Rep 8:957\u2013965","journal-title":"Cell Rep"},{"key":"1714_CR87","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/ncb3274","volume":"18","author":"J Fu","year":"2016","unstructured":"Fu J, Lipinszki Z, Rangone H, Min M, Mykura C, Chao-Chu J, Schneider S, Dzhindzhev NS, Gottardo M, Riparbelli MG, Callaini G, Glover DM (2016) Conserved molecular interactions in centriole-to-centrosome conversion. Nat Cell Biol 18:87\u201399","journal-title":"Nat Cell Biol"},{"key":"1714_CR88","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1038\/nmeth.2518","volume":"10","author":"P Mertins","year":"2013","unstructured":"Mertins P, Qiao JW, Patel J, Udeshi ND, Clauser KR, Mani DR, Burgess MW, Gillette MA, Jaffe JD, Carr SA (2013) Integrated proteomic analysis of post-translational modifications by serial enrichment. Nat Methods 10:634\u2013637","journal-title":"Nat Methods"},{"key":"1714_CR89","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1126\/science.1140321","volume":"316","author":"S Matsuoka","year":"2007","unstructured":"Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ (2007) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316:1160\u20131166","journal-title":"Science"},{"key":"1714_CR90","doi-asserted-by":"publisher","first-page":"D512","DOI":"10.1093\/nar\/gku1267","volume":"43","author":"PV Hornbeck","year":"2015","unstructured":"Hornbeck PV, Zhang B, Murray B, Kornhauser JM, Latham V, Skrzypek E (2015) PhosphoSitePlus, 2014: mutations, PTMs and recalibrations. Nucleic Acids Res 43:D512\u2013D520","journal-title":"Nucleic Acids Res"},{"key":"1714_CR91","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1101\/gad.1934210","volume":"24","author":"KE Hurov","year":"2010","unstructured":"Hurov KE, Cotta-Ramusino C, Elledge SJ (2010) A genetic screen identifies the triple T complex required for DNA damage signaling and ATM and ATR stability. Genes Dev 24:1939\u20131950","journal-title":"Genes Dev"},{"key":"1714_CR92","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1016\/j.cell.2012.06.028","volume":"150","author":"M Chaki","year":"2012","unstructured":"Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150:533\u2013548","journal-title":"Cell"},{"key":"1714_CR93","doi-asserted-by":"publisher","first-page":"2323","DOI":"10.1093\/hmg\/ddi235","volume":"14","author":"GB Collin","year":"2005","unstructured":"Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK (2005) Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum Mol Genet 14:2323\u20132333","journal-title":"Hum Mol Genet"},{"key":"1714_CR94","first-page":"731","volume":"21","author":"S Romano","year":"2008","unstructured":"Romano S, Milan G, Veronese C, Collin GB, Marshall JD, Centobene C, Favaretto F, Dal Pra C, Scarda A, Leandri S, Naggert JK, Maffei P, Vettor R (2008) Regulation of Alstrom syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity. Int J Mol Med 21:731\u2013736","journal-title":"Int J Mol Med"},{"key":"1714_CR95","doi-asserted-by":"publisher","first-page":"1820","DOI":"10.1073\/pnas.0812518106","volume":"106","author":"V Marion","year":"2009","unstructured":"Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H (2009) Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A 106:1820\u20131825","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1714_CR96","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.gene.2010.03.015","volume":"460","author":"TL Purvis","year":"2010","unstructured":"Purvis TL, Hearn T, Spalluto C, Knorz VJ, Hanley KP, Sanchez-Elsner T, Hanley NA, Wilson DI (2010) Transcriptional regulation of the Alstr\u00f6m syndrome gene ALMS1 by members of the RFX family and Sp1. Gene 460:20\u201329","journal-title":"Gene"},{"key":"1714_CR97","doi-asserted-by":"publisher","first-page":"4878","DOI":"10.1093\/nar\/gkl651","volume":"34","author":"N Yabuta","year":"2006","unstructured":"Yabuta N, Onda H, Watanabe M, Yoshioka N, Nagamori I, Funatsu T, Toji S, Tamai K, Nojima H (2006) Isolation and characterization of the TIGA genes, whose transcripts are induced by growth arrest. Nucleic Acids Res 34:4878\u20134892","journal-title":"Nucleic Acids Res"},{"key":"1714_CR98","doi-asserted-by":"publisher","first-page":"e52166","DOI":"10.1371\/journal.pone.0052166","volume":"7","author":"RA Hoh","year":"2012","unstructured":"Hoh RA, Stowe TR, Turk E, Stearns T (2012) Transcriptional program of ciliated epithelial cells reveals new cilium and centrosome components and links to human disease. PLoS One 7:e52166","journal-title":"PLoS One"},{"key":"1714_CR99","doi-asserted-by":"publisher","first-page":"1461","DOI":"10.1101\/gad.243832.114","volume":"28","author":"L Ma","year":"2014","unstructured":"Ma L, Quigley I, Omran H, Kintner C (2014) Multicilin drives centriole biogenesis via E2f proteins. Genes Dev 28:1461\u20131471","journal-title":"Genes Dev"},{"key":"1714_CR100","doi-asserted-by":"publisher","first-page":"8549","DOI":"10.1038\/ncomms9549","volume":"6","author":"R Elkon","year":"2015","unstructured":"Elkon R, Milon B, Morrison L, Shah M, Vijayakumar S, Racherla M, Leitch CC, Silipino L, Hadi S, Weiss-Gayet M, Barras E, Schmid CD, Ait-Lounis A, Barnes A, Song Y, Eisenman DJ, Eliyahu E, Frolenkov GI, Strome SE, Durand B, Zaghloul NA, Jones SM, Reith W, Hertzano R (2015) RFX transcription factors are essential for hearing in mice. Nat Commun 6:8549","journal-title":"Nat Commun"},{"key":"1714_CR101","doi-asserted-by":"publisher","first-page":"21931","DOI":"10.1073\/pnas.1016071107","volume":"107","author":"MP Creyghton","year":"2010","unstructured":"Creyghton MP, Cheng AW, Welstead GG, Kooistra T, Carey BW, Steine EJ, Hanna J, Lodato MA, Frampton GM, Sharp PA, Boyer LA, Young RA, Jaenisch R (2010) Histone H3K27ac separates active from poised enhancers and predicts developmental state. Proc Natl Acad Sci U S A 107:21931\u201321936","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1714_CR102","doi-asserted-by":"publisher","first-page":"D658","DOI":"10.1093\/nar\/gkw983","volume":"45","author":"S Mei","year":"2017","unstructured":"Mei S, Qin Q, Wu Q, Sun H, Zheng R, Zang C, Zhu M, Wu J, Shi X, Taing L, Liu T, Brown M, Meyer CA, Liu XS (2017) Cistrome data browser: a data portal for ChIP-Seq and chromatin accessibility data in human and mouse. Nucleic Acids Res 45:D658\u2013D662","journal-title":"Nucleic Acids Res"},{"key":"1714_CR103","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1242\/dev.074666","volume":"141","author":"SP Choksi","year":"2014","unstructured":"Choksi SP, Lauter G, Swoboda P, Roy S (2014) Switching on cilia: transcriptional networks regulating ciliogenesis. Development 141:1427\u20131441","journal-title":"Development"},{"key":"1714_CR104","doi-asserted-by":"publisher","first-page":"18146","DOI":"10.1074\/jbc.M115.639468","volume":"290","author":"GM Kang","year":"2015","unstructured":"Kang GM, Han YM, Ko HW, Kim J, Oh BC, Kwon I, Kim M-S (2015) Leptin elongates hypothalamic neuronal cilia via transcriptional regulation and actin destabilization. J Biol Chem 290:18146\u201318155","journal-title":"J Biol Chem"},{"key":"1714_CR105","doi-asserted-by":"publisher","first-page":"3578","DOI":"10.1096\/fj.201500124RR","volume":"30","author":"K Tammimies","year":"2016","unstructured":"Tammimies K, Bieder A, Lauter G, Sugiaman-Trapman D, Torchet R, Hokkanen M-E, Burghoorn J, Castren E, Kere J, Tapia-Paez I, Swoboda P (2016) Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by regulatory factor (RF) X transcription factors through X-box promoter motifs. FASEB J 30:3578\u20133587","journal-title":"FASEB J"},{"key":"1714_CR106","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1042\/BC20100035","volume":"102","author":"J Thomas","year":"2010","unstructured":"Thomas J, Morl\u00e9 L, Soulavie F, Lauren\u00e7on A, Sagnol S, Durand B (2010) Transcriptional control of genes involved in ciliogenesis: a first step in making cilia. Biol Cell 102:499\u2013513","journal-title":"Biol Cell"},{"key":"1714_CR107","doi-asserted-by":"publisher","first-page":"2470","DOI":"10.1091\/mbc.e04-11-1014","volume":"16","author":"Q Yan","year":"2005","unstructured":"Yan Q, Sun W, Kujala P, Lotfi Y, Vida TA, Bean AJ (2005) CART: an Hrs\/actinin-4\/BERP\/myosin V protein complex required for efficient receptor recycling. Mol Biol Cell 16:2470\u20132482","journal-title":"Mol Biol Cell"},{"key":"1714_CR108","doi-asserted-by":"publisher","first-page":"1843","DOI":"10.1091\/mbc.12.6.1843","volume":"12","author":"LA Lapierre","year":"2001","unstructured":"Lapierre LA, Kumar R, Hales CM, Navarre J, Bhartur SG, Burnette JO, Provance DW, Mercer JA, Bahler M, Goldenring JR (2001) Myosin Vb is associated with plasma membrane recycling systems. Mol Biol Cell 12:1843\u20131857","journal-title":"Mol Biol Cell"},{"key":"1714_CR109","doi-asserted-by":"publisher","first-page":"43692","DOI":"10.1038\/srep43692","volume":"7","author":"LH Assis","year":"2017","unstructured":"Assis LH, Silva-Junior RM, Dolce LG, Alborghetti MR, Honorato RV, Nascimento AF, Melo-Hanchuk TD, Trindade DM, Tonoli CC, Santos CT, Oliveira PS, Larson RE, Kobarg J, Espreafico EM, Giuseppe PO, Murakami MT (2017) The molecular motor myosin Va interacts with the cilia-centrosomal protein RPGRIP1L. Sci Rep 7:43692","journal-title":"Sci Rep"},{"key":"1714_CR110","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1091\/mbc.e12-08-0598","volume":"24","author":"JR Schaub","year":"2013","unstructured":"Schaub JR, Stearns T (2013) The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content. Mol Biol Cell 24:453\u2013464","journal-title":"Mol Biol Cell"},{"key":"1714_CR111","doi-asserted-by":"publisher","first-page":"1521","DOI":"10.15252\/embr.201643846","volume":"18","author":"P Kohli","year":"2017","unstructured":"Kohli P, Hohne M, Jungst C, Bertsch S, Ebert LK, Schauss AC, Benzing T, Rinschen MM, Schermer B (2017) The ciliary membrane-associated proteome reveals actin-binding proteins as key components of cilia. EMBO Rep 18:1521\u20131535","journal-title":"EMBO Rep"},{"key":"1714_CR112","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/j.cell.2015.06.043","volume":"162","author":"EL Huttlin","year":"2015","unstructured":"Huttlin EL, Ting L, Bruckner RJ, Gebreab F, Gygi MP, Szpyt J, Tam S, Zarraga G, Colby G, Baltier K, Dong R, Guarani V, Vaites LP, Ordureau A, Rad R, Erickson BK, Wuhr M, Chick J, Zhai B, Kolippakkam D, Mintseris J, Obar RA, Harris T, Artavanis-Tsakonas S, Sowa ME, De Camilli P, Paulo JA, Harper JW, Gygi SP (2015) The BioPlex network: a systematic exploration of the human Interactome. Cell 162:425\u2013440","journal-title":"Cell"},{"key":"1714_CR113","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1038\/nature22366","volume":"545","author":"EL Huttlin","year":"2017","unstructured":"Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW (2017) Architecture of the human interactome defines protein communities and disease networks. Nature 545:505\u2013509","journal-title":"Nature"},{"key":"1714_CR114","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1038\/nature08895","volume":"464","author":"J Kim","year":"2010","unstructured":"Kim J, Lee JE, Heynen-Genel S, Suyama E, Ono K, Lee K, Ideker T, Aza-Blanc P, Gleeson JG (2010) Functional genomic screen for modulators of ciliogenesis and cilium length. Nature 464:1048\u20131051","journal-title":"Nature"},{"key":"1714_CR115","doi-asserted-by":"publisher","first-page":"e1002969","DOI":"10.1371\/journal.pgen.1002969","volume":"8","author":"JCY Lo","year":"2012","unstructured":"Lo JCY, Jamsai D, O\u2019Connor AE, Borg C, Clark BJ, Whisstock JC, Field MC, Adams V, Ishikawa T, Aitken RJ, Whittle B, Goodnow CC, Ormandy CJ, O\u2019Bryan MK (2012) RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. PLoS Genet 8:e1002969","journal-title":"PLoS Genet"},{"key":"1714_CR116","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.devcel.2017.05.016","volume":"42","author":"T Kanie","year":"2017","unstructured":"Kanie T, Abbott KL, Mooney NA, Plowey ED, Demeter J, Jackson PK (2017) The CEP19-RABL2 GTPase complex binds IFT-B to initiate intraflagellar transport at the ciliary base. Dev Cell 42:22\u201336","journal-title":"Dev Cell"},{"key":"1714_CR117","doi-asserted-by":"publisher","first-page":"1652","DOI":"10.1091\/mbc.e17-01-0017","volume":"28","author":"Y Nishijima","year":"2017","unstructured":"Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y, Nakayama K (2017) RABL2 interacts with the IFT-B complex and CEP19, and participates in ciliary assembly. Mol Biol Cell 28:1652\u20131666","journal-title":"Mol Biol Cell"},{"key":"1714_CR118","doi-asserted-by":"publisher","first-page":"2270","DOI":"10.15252\/embj.201694613","volume":"35","author":"B Antonny","year":"2016","unstructured":"Antonny B, Burd C, De Camilli P, Chen E, Daumke O, Faelber K, Ford M, Frolov VA, Frost A, Hinshaw JE, Kirchhausen T, Kozlov MM, Lenz M, Low HH, McMahon H, Merrifield C, Pollard TD, Robinson PJ, Roux A, Schmid S (2016) Membrane fission by dynamin: what we know and what we need to know. EMBO J 35:2270\u20132284","journal-title":"EMBO J"},{"key":"1714_CR119","doi-asserted-by":"publisher","first-page":"3212","DOI":"10.1038\/sj.onc.1209343","volume":"25","author":"A Milton","year":"2006","unstructured":"Milton A, Luoto K, Ingram L, Munro S, Logan N, Graham AL, Brummelkamp TR, Hijmans EM, Bernards R, La Thangue NB (2006) A functionally distinct member of the DP family of E2F subunits. Oncogene 25:3212","journal-title":"Oncogene"},{"key":"1714_CR120","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.cub.2015.11.020","volume":"26","author":"C Delevoye","year":"2016","unstructured":"Delevoye C, Heiligenstein X, Ripoll L, Gilles-Marsens F, Dennis MK, Linares RA, Derman L, Gokhale A, Morel E, Faundez V, Marks MS, Raposo G (2016) BLOC-1 brings together the actin and microtubule cytoskeletons to generate recycling endosomes. Curr Biol 26:1\u201313","journal-title":"Curr Biol"},{"key":"1714_CR121","doi-asserted-by":"publisher","first-page":"e9325","DOI":"10.1371\/journal.pone.0009325","volume":"5","author":"A Marley","year":"2010","unstructured":"Marley A, von Zastrow M (2010) Dysbindin promotes the post-endocytic sorting of G protein-coupled receptors to lysosomes. PLoS One 5:e9325","journal-title":"PLoS One"},{"key":"1714_CR122","doi-asserted-by":"publisher","first-page":"2131","DOI":"10.1083\/jcb.201611138","volume":"216","author":"WJ Monis","year":"2017","unstructured":"Monis WJ, Faundez V, Pazour GJ (2017) BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia. J Cell Biol 216:2131\u20132150","journal-title":"J Cell Biol"},{"key":"1714_CR123","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1016\/j.cell.2015.09.053","volume":"163","author":"MY Hein","year":"2015","unstructured":"Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA, Weisswange I, Mansfeld J, Buchholz F, Hyman AA, Mann M (2015) A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 163:712\u2013723","journal-title":"Cell"},{"key":"1714_CR124","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1083\/jcb.200401010","volume":"164","author":"Y Wang","year":"2004","unstructured":"Wang Y, Satoh A, Warren G, Meyer HH (2004) VCIP135 acts as a deubiquitinating enzyme during p97-p47-mediated reassembly of mitotic Golgi fragments. J Cell Biol 164:973\u2013978","journal-title":"J Cell Biol"},{"key":"1714_CR125","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1083\/jcb.200208112","volume":"159","author":"K Uchiyama","year":"2002","unstructured":"Uchiyama K, Jokitalo E, Kano F, Murata M, Zhang X, Canas B, Newman R, Rabouille C, Pappin D, Freemont P, Kondo H (2002) VCIP135, a novel essential factor for p97\/p47-mediated membrane fusion, is required for Golgi and ER assembly in vivo. J Cell Biol 159:855\u2013866","journal-title":"J Cell Biol"},{"key":"1714_CR126","doi-asserted-by":"publisher","first-page":"1306","DOI":"10.1016\/j.celrep.2013.03.027","volume":"3","author":"M Varjosalo","year":"2013","unstructured":"Varjosalo M, Keskitalo S, Van\u00c2 Drogen A, Nurkkala H, Vichalkovski A, Aebersold R, Gstaiger M (2013) The protein interaction landscape of the human CMGC kinase group. Cell Rep 3:1306\u20131320","journal-title":"Cell Rep"},{"key":"1714_CR127","doi-asserted-by":"publisher","first-page":"e0149477","DOI":"10.1371\/journal.pone.0149477","volume":"11","author":"B Jung","year":"2016","unstructured":"Jung B, Padula D, Burtscher I, Landerer C, Lutter D, Theis F, Messias AC, Geerlof A, Sattler M, Kremmer E, Boldt K, Ueffing M, Lickert H (2016) Pitchfork and Gprasp2 target smoothened to the primary cilium for hedgehog pathway activation. PLoS One 11:e0149477","journal-title":"PLoS One"},{"key":"1714_CR128","doi-asserted-by":"publisher","first-page":"6970","DOI":"10.1073\/pnas.1322545111","volume":"111","author":"S Li","year":"2014","unstructured":"Li S, Wang L, Fu B, Berman MA, Diallo A, Dorf ME (2014) TRIM65 regulates microRNA activity by ubiquitination of TNRC6. Proc Natl Acad Sci U S A 111:6970\u20136975","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1714_CR129","doi-asserted-by":"publisher","first-page":"3555","DOI":"10.4161\/cc.21574","volume":"11","author":"MA Gomez-Ferreria","year":"2012","unstructured":"Gomez-Ferreria MA, Bashkurov M, Mullin M, Gingras A-C, Pelletier L (2012) CEP192 interacts physically and functionally with the K63-deubiquitinase CYLD to promote mitotic spindle assembly. Cell Cycle 11:3555\u20133558","journal-title":"Cell Cycle"},{"key":"1714_CR130","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1016\/j.cub.2014.01.067","volume":"24","author":"EN Firat-Karalar","year":"2014","unstructured":"Firat-Karalar EN, Rauniyar N, Yates JR 3rd, Stearns T (2014) Proximity interactions among centrosome components identify regulators of centriole duplication. Curr Biol 24:664\u2013670","journal-title":"Curr Biol"},{"key":"1714_CR131","doi-asserted-by":"publisher","first-page":"1484","DOI":"10.1016\/j.cell.2015.10.065","volume":"163","author":"GD Gupta","year":"2015","unstructured":"Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q, Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M, Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J, Gingras AC, Raught B, Pelletier L (2015) A dynamic protein interaction landscape of the human centrosome-cilium interface. Cell 163:1484\u20131499","journal-title":"Cell"},{"key":"1714_CR132","doi-asserted-by":"publisher","first-page":"1781","DOI":"10.1074\/mcp.M114.045658","volume":"14","author":"E Coyaud","year":"2015","unstructured":"Coyaud E, Mis M, Laurent EMN, Dunham WH, Couzens AL, Robitaille M, Gingras A-C, Angers S, Raught B (2015) BioID-based identification of Skp Cullin F-box (SCF)beta-TrCP1\/2 E3 ligase substrates. Mol Cell Proteomics 14:1781\u20131795","journal-title":"Mol Cell Proteomics"},{"key":"1714_CR133","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1016\/j.bbrc.2016.08.002","volume":"478","author":"FG Agircan","year":"2016","unstructured":"Agircan FG, Hata S, Nussbaum-Krammer C, Atorino E, Schiebel E (2016) Proximity mapping of human separase by the BioID approach. Biochem Biophys Res Commun 478:656\u2013662","journal-title":"Biochem Biophys Res Commun"},{"key":"1714_CR134","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1038\/nature04985","volume":"442","author":"MF Tsou","year":"2006","unstructured":"Tsou MF, Stearns T (2006) Mechanism limiting centrosome duplication to once per cell cycle. Nature 442:947\u2013951","journal-title":"Nature"},{"key":"1714_CR135","doi-asserted-by":"publisher","first-page":"rs15-rs15","DOI":"10.1126\/scisignal.2004712","volume":"6","author":"AL Couzens","year":"2013","unstructured":"Couzens AL, Knight JDR, Kean MJ, Teo G, Weiss A, Dunham WH, Lin Z-Y, Bagshaw RD, Sicheri F, Pawson T, Wrana JL, Choi H, Gingras A-C (2013) Protein interaction network of the mammalian hippo pathway reveals mechanisms of kinase-phosphatase interactions. Sci Signal 6:rs15-rs15","journal-title":"Sci Signal"},{"key":"1714_CR136","doi-asserted-by":"publisher","first-page":"D369","DOI":"10.1093\/nar\/gkw1102","volume":"45","author":"A Chatr-aryamontri","year":"2017","unstructured":"Chatr-aryamontri A, Oughtred R, Boucher L, Rust J, Chang C, Kolas NK, O'Donnell L, Oster S, Theesfeld C, Sellam A, Stark C, Breitkreutz B-J, Dolinski K, Tyers M (2017) The BioGRID interaction database: 2017 update. Nucleic Acids Res 45:D369\u2013D379","journal-title":"Nucleic Acids Res"},{"key":"1714_CR137","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/nature02030","volume":"425","author":"SJ Ansley","year":"2003","unstructured":"Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628\u2013633","journal-title":"Nature"},{"key":"1714_CR138","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1038\/ng1644","volume":"37","author":"AJ Ross","year":"2005","unstructured":"Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 37:1135\u20131140","journal-title":"Nat Genet"},{"key":"1714_CR139","doi-asserted-by":"publisher","first-page":"4242","DOI":"10.1073\/pnas.0711027105","volume":"105","author":"NF Berbari","year":"2008","unstructured":"Berbari NF, Lewis JS, Bishop GA, Askwith CC, Mykytyn K (2008) Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc Natl Acad Sci U S A 105:4242\u20134246","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1714_CR140","doi-asserted-by":"publisher","first-page":"e6979","DOI":"10.1371\/journal.pone.0006979","volume":"4","author":"Z Wang","year":"2009","unstructured":"Wang Z, Li V, Chan GC, Phan T, Nudelman AS, Xia Z, Storm DR (2009) Adult type 3 adenylyl cyclase-deficient mice are obese. PLoS One 4:e6979","journal-title":"PLoS One"},{"key":"1714_CR141","doi-asserted-by":"publisher","first-page":"1586","DOI":"10.1016\/j.cub.2007.08.034","volume":"17","author":"JR Davenport","year":"2007","unstructured":"Davenport JR, Watts AJ, Roper VC, Croyle MJ, van Groen T, Wyss JM, Nagy TR, Kesterson RA, Yoder BK (2007) Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr Biol 17:1586\u20131594","journal-title":"Curr Biol"},{"key":"1714_CR142","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1002\/mgg3.296","volume":"5","author":"JH Chen","year":"2017","unstructured":"Chen JH, Geberhiwot T, Barrett TG, Paisey R, Semple RK (2017) Refining genotype-phenotype correlation in Alstrom syndrome through study of primary human fibroblasts. Mol Genet Genomic Med 5:390\u2013404","journal-title":"Mol Genet Genomic Med"},{"key":"1714_CR143","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1083\/jcb.200504107","volume":"171","author":"S Bahe","year":"2005","unstructured":"Bahe S, Stierhof YD, Wilkinson CJ, Leiss F, Nigg EA (2005) Rootletin forms centriole-associated filaments and functions in centrosome cohesion. J Cell Biol 171:27\u201333","journal-title":"J Cell Biol"},{"key":"1714_CR144","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1091\/mbc.e05-10-0943","volume":"17","author":"J Yang","year":"2006","unstructured":"Yang J, Adamian M, Li T (2006) Rootletin interacts with C-Nap1 and may function as a physical linker between the pair of centrioles\/basal bodies in cells. Mol Biol Cell 17:1033\u20131040","journal-title":"Mol Biol Cell"},{"key":"1714_CR145","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1083\/jcb.151.4.837","volume":"151","author":"T Mayor","year":"2000","unstructured":"Mayor T, Stierhof YD, Tanaka K, Fry AM, Nigg EA (2000) The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion. J Cell Biol 151:837\u2013846","journal-title":"J Cell Biol"},{"key":"1714_CR146","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1136\/jmedgenet-2014-102287","volume":"51","author":"S Khateb","year":"2014","unstructured":"Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D (2014) A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. J Med Genet 51:460\u2013469","journal-title":"J Med Genet"},{"key":"1714_CR147","doi-asserted-by":"publisher","first-page":"e0168966","DOI":"10.1371\/journal.pone.0168966","volume":"11","author":"M Castro-Miro de","year":"2016","unstructured":"de Castro-Miro M, Tonda R, Escudero-Ferruz P, Andres R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodriguez-Ezcurra JJ, Farrando J, Perez-Santonja JJ, Cormand B, Marfany G, Gonzalez-Duarte R (2016) Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PLoS One 11:e0168966","journal-title":"PLoS One"},{"key":"1714_CR148","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1080\/13816810.2018.1466338","volume":"39","author":"D Kubota","year":"2018","unstructured":"Kubota D, Gocho K, Kikuchi S, Akeo K, Miura M, Yamaki K, Takahashi H, Kameya S (2018) CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. Ophthalmic Genet 39:500\u2013507","journal-title":"Ophthalmic Genet"},{"key":"1714_CR149","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.1038\/ncomms2517","volume":"4","author":"ML Fogeron","year":"2013","unstructured":"Fogeron ML, Muller H, Schade S, Dreher F, Lehmann V, Kuhnel A, Scholz AK, Kashofer K, Zerck A, Fauler B, Lurz R, Herwig R, Zatloukal K, Lehrach H, Gobom J, Nordhoff E, Lange BM (2013) LGALS3BP regulates centriole biogenesis and centrosome hypertrophy in cancer cells. Nat Commun 4:1531","journal-title":"Nat Commun"},{"key":"1714_CR150","doi-asserted-by":"publisher","first-page":"1563","DOI":"10.1083\/jcb.141.7.1563","volume":"141","author":"AM Fry","year":"1998","unstructured":"Fry AM, Mayor T, Meraldi P, Stierhof YD, Tanaka K, Nigg EA (1998) C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2. J Cell Biol 141:1563\u20131574","journal-title":"J Cell Biol"},{"key":"1714_CR151","doi-asserted-by":"publisher","first-page":"e1005575","DOI":"10.1371\/journal.pgen.1005575","volume":"11","author":"R Bachmann-Gagescu","year":"2015","unstructured":"Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SEC, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SCF, Kremer H, van Wijk E (2015) The ciliopathy protein CC2D2A associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking. PLoS Genet 11:e1005575","journal-title":"PLoS Genet"},{"key":"1714_CR152","doi-asserted-by":"publisher","first-page":"16139","DOI":"10.1073\/pnas.1308243110","volume":"110","author":"KM Nishiguchi","year":"2013","unstructured":"Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci U S A 110:16139\u201316144","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1714_CR153","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1002\/humu.22482","volume":"35","author":"AD Borman","year":"2014","unstructured":"Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT (2014) A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum Mutat 35:289\u2013293","journal-title":"Hum Mutat"},{"key":"1714_CR154","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1038\/ng.104","volume":"40","author":"TJ Park","year":"2008","unstructured":"Park TJ, Mitchell BJ, Abitua PB, Kintner C, Wallingford JB (2008) Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells. Nat Genet 40:871\u2013879","journal-title":"Nat Genet"},{"key":"1714_CR155","doi-asserted-by":"publisher","first-page":"e1005243","DOI":"10.1371\/journal.pgen.1005243","volume":"11","author":"M Panic","year":"2015","unstructured":"Panic M, Hata S, Neuner A, Schiebel E (2015) The centrosomal linker and microtubules provide dual levels of spatial coordination of centrosomes. PLoS Genet 11:e1005243","journal-title":"PLoS Genet"},{"key":"1714_CR156","doi-asserted-by":"publisher","first-page":"6894","DOI":"10.1038\/ncomms7894","volume":"6","author":"S Floriot","year":"2015","unstructured":"Floriot S, Vesque C, Rodriguez S, Bourgain-Guglielmetti F, Karaiskou A, Gautier M, Duchesne A, Barbey S, Fritz S, Vasilescu A, Bertaud M, Moudjou M, Halliez S, Cormier-Daire V, J ELH, Nigg EA, Manciaux L, Guatteo R, Cesbron N, Toutirais G, Eggen A, Schneider-Maunoury S, Boichard D, Sobczak-Thepot J, Schibler L (2015) C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. Nat Commun 6:6894","journal-title":"Nat Commun"},{"key":"1714_CR157","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1091\/mbc.e16-05-0325","volume":"28","author":"AM Flanagan","year":"2017","unstructured":"Flanagan AM, Stavenschi E, Basavaraju S, Gaboriau D, Hoey DA, Morrison CG (2017) Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification. Mol Biol Cell 28:736\u2013745","journal-title":"Mol Biol Cell"},{"key":"1714_CR158","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1083\/jcb.201608119","volume":"216","author":"A Loukil","year":"2017","unstructured":"Loukil A, Tormanen K, Sutterlin C (2017) The daughter centriole controls ciliogenesis by regulating Neurl-4 localization at the centrosome. J Cell Biol 216:1287\u20131300","journal-title":"J Cell Biol"},{"key":"1714_CR159","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1016\/j.devcel.2016.10.006","volume":"39","author":"G Mazo","year":"2016","unstructured":"Mazo G, Soplop N, Wang WJ, Uryu K, Tsou MB (2016) Spatial control of primary ciliogenesis by subdistal appendages alters sensation-associated properties of cilia. Dev Cell 39:424\u2013437","journal-title":"Dev Cell"},{"key":"1714_CR160","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/j.devcel.2016.07.013","volume":"38","author":"IV Nechipurenko","year":"2016","unstructured":"Nechipurenko IV, Olivier-Mason A, Kazatskaya A, Kennedy J, McLachlan IG, Heiman MG, Blacque OE, Sengupta P (2016) A conserved role for Girdin in basal body positioning and ciliogenesis. Dev Cell 38:493\u2013506","journal-title":"Dev Cell"},{"key":"1714_CR161","doi-asserted-by":"publisher","first-page":"2493","DOI":"10.1242\/jcs.142331","volume":"127","author":"T Hardy","year":"2014","unstructured":"Hardy T, Lee M, Hames RS, Prosser SL, Cheary D-M, Samant MD, Schultz F, Baxter JE, Rhee K, Fry AM (2014) Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction. J Cell Sci 127:2493\u20132506","journal-title":"J Cell Sci"},{"key":"1714_CR162","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/j.ejcb.2012.03.009","volume":"91","author":"C Spalluto","year":"2012","unstructured":"Spalluto C, Wilson DI, Hearn T (2012) Nek2 localises to the distal portion of the mother centriole\/basal body and is required for timely cilium disassembly at the G2\/M transition. Eur J Cell Biol 91:675\u2013686","journal-title":"Eur J Cell Biol"},{"key":"1714_CR163","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1083\/jcb.200405023","volume":"166","author":"A Jurczyk","year":"2004","unstructured":"Jurczyk A, Gromley A, Redick S, San Agustin J, Witman G, Pazour GJ, Peters DJ, Doxsey S (2004) Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. J Cell Biol 166:637\u2013643","journal-title":"J Cell Biol"},{"key":"1714_CR164","doi-asserted-by":"publisher","first-page":"4321","DOI":"10.1242\/jcs.020248","volume":"120","author":"S Graser","year":"2007","unstructured":"Graser S, Stierhof YD, Nigg EA (2007) Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. J Cell Sci 120:4321\u20134331","journal-title":"J Cell Sci"},{"key":"1714_CR165","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1016\/j.cell.2015.06.055","volume":"162","author":"B Madarampalli","year":"2015","unstructured":"Madarampalli B, Yuan Y, Liu D, Lengel K, Xu Y, Li G, Yang J, Liu X, Lu Z, Liu DX (2015) ATF5 connects the pericentriolar materials to the proximal end of the mother centriole. Cell 162:580\u2013592","journal-title":"Cell"},{"key":"1714_CR166","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1016\/j.tem.2015.02.006","volume":"26","author":"P Bi","year":"2015","unstructured":"Bi P, Kuang S (2015) Notch signaling as a novel regulator of metabolism. Trends Endocrinol Metab 26:248\u2013255","journal-title":"Trends Endocrinol Metab"},{"key":"1714_CR167","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1083\/jcb.200806091","volume":"183","author":"C Collesi","year":"2008","unstructured":"Collesi C, Zentilin L, Sinagra G, Giacca M (2008) Notch1 signaling stimulates proliferation of immature cardiomyocytes. J Cell Biol 183:117\u2013128","journal-title":"J Cell Biol"},{"key":"1714_CR168","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1016\/j.cell.2011.05.030","volume":"145","author":"EJ Ezratty","year":"2011","unstructured":"Ezratty EJ, Stokes N, Chai S, Shah AS, Williams SE, Fuchs E (2011) A role for the primary cilium in Notch signaling and epidermal differentiation during skin development. Cell 145:1129\u20131141","journal-title":"Cell"},{"key":"1714_CR169","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/nrm3351","volume":"13","author":"D Leto","year":"2012","unstructured":"Leto D, Saltiel AR (2012) Regulation of glucose transport by insulin: traffic control of GLUT4. Nat Rev Mol Cell Biol 13:383\u2013396","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1714_CR170","doi-asserted-by":"publisher","first-page":"25115","DOI":"10.1074\/jbc.M801750200","volume":"283","author":"I Talior-Volodarsky","year":"2008","unstructured":"Talior-Volodarsky I, Randhawa VK, Zaid H, Klip A (2008) Alpha-actinin-4 is selectively required for insulin-induced GLUT4 translocation. J Biol Chem 283:25115\u201325123","journal-title":"J Biol Chem"},{"key":"1714_CR171","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1242\/jcs.079699","volume":"124","author":"CE Lowe","year":"2011","unstructured":"Lowe CE, O'Rahilly S, Rochford JJ (2011) Adipogenesis at a glance. J Cell Sci 124:2681\u20132686","journal-title":"J Cell Sci"},{"key":"1714_CR172","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.tem.2015.01.006","volume":"26","author":"B Gustafson","year":"2015","unstructured":"Gustafson B, Hedjazifar S, Gogg S, Hammarstedt A, Smith U (2015) Insulin resistance and impaired adipogenesis. Trends Endocrinol Metab 26:193\u2013200","journal-title":"Trends Endocrinol Metab"},{"key":"1714_CR173","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1186\/s12864-016-2679-1","volume":"17","author":"TL Hostelley","year":"2016","unstructured":"Hostelley TL, Lodh S, Zaghloul NA (2016) Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl syndrome and Alstrom syndrome provides mechanistic insight into shared and divergent phenotypes. BMC Genomics 17:318","journal-title":"BMC Genomics"},{"key":"1714_CR174","doi-asserted-by":"crossref","unstructured":"Butler MG, Wang K, Marshall JD, Naggert JK, Rethmeyer JA, Gunewardena SS, Manzardo AM (2015) Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alstrom syndromes. Adv Genomics Genet 2015:53\u201375","DOI":"10.2147\/AGG.S74598"},{"key":"1714_CR175","doi-asserted-by":"publisher","first-page":"2341","DOI":"10.1091\/mbc.12.8.2341","volume":"12","author":"OL Moritz","year":"2001","unstructured":"Moritz OL, Tam BM, Hurd LL, Peranen J, Deretic D, Papermaster DS (2001) Mutant rab8 impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods. Mol Biol Cell 12:2341\u20132351","journal-title":"Mol Biol Cell"},{"key":"1714_CR176","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.preteyeres.2013.08.004","volume":"38","author":"J Wang","year":"2013","unstructured":"Wang J, Deretic D (2013) Molecular complexes that direct rhodopsin transport to primary cilia. Prog Retin Eye Res 38:1\u201319","journal-title":"Prog Retin Eye Res"},{"key":"1714_CR177","doi-asserted-by":"publisher","first-page":"5308","DOI":"10.1038\/ncomms6308","volume":"5","author":"JM Gerdes","year":"2014","unstructured":"Gerdes JM, Christou-Savina S, Xiong Y, Moede T, Moruzzi N, Karlsson-Edlund P, Leibiger B, Leibiger IB, Ostenson CG, Beales PL, Berggren PO (2014) Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents. Nat Commun 5:5308","journal-title":"Nat Commun"},{"key":"1714_CR178","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1111\/j.1399-5448.2011.00789.x","volume":"13","author":"V Bettini","year":"2012","unstructured":"Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R, Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R (2012) The progression from obesity to type 2 diabetes in Alstr\u00f6m syndrome. Pediatr Diabetes 13:59\u201367","journal-title":"Pediatr Diabetes"},{"key":"1714_CR179","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1038\/nrm.2017.21","volume":"18","author":"N Spassky","year":"2017","unstructured":"Spassky N, Meunier A (2017) The development and functions of multiciliated epithelia. Nat Rev Mol Cell Biol 18:423\u2013436","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1714_CR180","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1126\/science.aaf6419","volume":"352","author":"DT Grimes","year":"2016","unstructured":"Grimes DT, Boswell CW, Morante NF, Henkelman RM, Burdine RD, Ciruna B (2016) Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature. Science 352:1341\u20131344","journal-title":"Science"},{"key":"1714_CR181","doi-asserted-by":"crossref","unstructured":"Xiao Y, Leach J, Wang J, Martin JF (2016) Hippo\/yap signaling in cardiac development and regeneration. Curr Treat Options Cardiovasc Med 18(38)","DOI":"10.1007\/s11936-016-0461-y"},{"key":"1714_CR182","doi-asserted-by":"publisher","first-page":"e05563","DOI":"10.7554\/eLife.05563","volume":"4","author":"DC Zebrowski","year":"2015","unstructured":"Zebrowski DC, Vergarajauregui S, Wu C-C, Piatkowski T, Becker R, Leone M, Hirth S, Ricciardi F, Falk N, Giessl A, Just S, Braun T, Weidinger G, Engel FB (2015) Developmental alterations in centrosome integrity contribute to the post-mitotic state of mammalian cardiomyocytes. Elife 4:e05563","journal-title":"Elife"},{"key":"1714_CR183","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1242\/jcs.061093","volume":"123","author":"ES Seeley","year":"2010","unstructured":"Seeley ES, Nachury MV (2010) The perennial organelle: assembly and disassembly of the primary cilium. J Cell Sci 123:511\u2013518","journal-title":"J Cell Sci"},{"key":"1714_CR184","first-page":"569","volume":"6","author":"S Ichihara","year":"2013","unstructured":"Ichihara S, Yamamoto K, Asano H, Nakatochi M, Sukegawa M, Ichihara G, Izawa H, Hirashiki A, Takatsu F, Umeda H, Iwase M, Inagaki H, Hirayama H, Sone T, Nishigaki K, Minatoguchi S, Cho M-C, Jang Y, Kim H-S, Park JE, Tada-Oikawa S, Kitajima H, Matsubara T, Sunagawa K, Shimokawa H, Kimura A, Lee J-Y, Murohara T, Inoue I, Yokota M (2013) Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis. Circulation 6:569\u2013578","journal-title":"Circulation"},{"key":"1714_CR185","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1101\/gr.849004","volume":"14","author":"GE Crooks","year":"2004","unstructured":"Crooks GE, Hon G, Chandonia JM, Brenner SE (2004) WebLogo: a sequence logo generator. Genome Res 14:1188\u20131190","journal-title":"Genome Res"},{"key":"1714_CR186","doi-asserted-by":"publisher","first-page":"3692","DOI":"10.1016\/j.yexcr.2008.09.016","volume":"314","author":"K Kim","year":"2008","unstructured":"Kim K, Lee S, Chang J, Rhee K (2008) A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization. Exp Cell Res 314:3692\u20133700","journal-title":"Exp Cell Res"},{"key":"1714_CR187","doi-asserted-by":"publisher","first-page":"e95076","DOI":"10.1172\/jci.insight.95076","volume":"3","author":"AB Jaykumar","year":"2018","unstructured":"Jaykumar AB, Caceres PS, King-Medina KN, Liao TD, Datta I, Maskey D, Naggert JK, Mendez M, Beierwaltes WH, Ortiz PA (2018) Role of Alstr\u00f6m syndrome 1 in the regulation of blood pressure and renal function. JCI Insight 3:e95076","journal-title":"JCI Insight"}],"container-title":["Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00109-018-1714-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-018-1714-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-018-1714-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T15:52:39Z","timestamp":1662393159000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00109-018-1714-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,12]]},"references-count":187,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["1714"],"URL":"https:\/\/doi.org\/10.1007\/s00109-018-1714-x","relation":{},"ISSN":["0946-2716","1432-1440"],"issn-type":[{"value":"0946-2716","type":"print"},{"value":"1432-1440","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,12]]},"assertion":[{"value":"10 August 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 October 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 October 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 November 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Human tissue was obtained with local research ethics committee permission and written informed consent.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The author declares that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}