{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:22:16Z","timestamp":1762323736940},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T00:00:00Z","timestamp":1402358400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Med Mol Morphol"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1007\/s00795-014-0079-7","type":"journal-article","created":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T18:23:41Z","timestamp":1402424621000},"page":"116-122","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome"],"prefix":"10.1007","volume":"48","author":[{"given":"Genshu","family":"Tate","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuma","family":"Tajiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Kishimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Mitsuya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,6,10]]},"reference":[{"key":"79_CR1","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/ng1197-305","volume":"17","author":"M Gebbia","year":"1997","unstructured":"Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, Penman-Splitt M et al (1997) X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 17:305\u2013308","journal-title":"Nat Genet"},{"key":"79_CR2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1086\/380998","volume":"74","author":"SM Ware","year":"2004","unstructured":"Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B et al (2004) Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 74:93\u2013105","journal-title":"Am J Hum Genet"},{"key":"79_CR3","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1086\/302289","volume":"64","author":"K Kosaki","year":"1999","unstructured":"Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G et al (1999) Characterization and mutation analysis of human LEFTY A andLEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet 64:712\u2013721","journal-title":"Am J Hum Genet"},{"key":"79_CR4","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<70::AID-AJMG14>3.0.CO;2-Y","volume":"82","author":"R Kosaki","year":"1999","unstructured":"Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA et al (1999) Left-right axis malformations associated with mutations inACVR2B, the gene for human activin receptor typeIIB. Am J Med Genet 82:70\u201376","journal-title":"Am J Med Genet"},{"key":"79_CR5","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/81695","volume":"26","author":"RN Bamford","year":"2000","unstructured":"Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M et al (2000) Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 26:365\u2013369","journal-title":"Nat Genet"},{"key":"79_CR6","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1136\/jmg.39.11.807","volume":"39","author":"Y Watanabe","year":"2002","unstructured":"Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC (2002) Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 39:807\u2013811","journal-title":"J Med Genet"},{"key":"79_CR7","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1086\/374319","volume":"72","author":"SW Robinson","year":"2003","unstructured":"Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD et al (2003) Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72:1047\u20131052","journal-title":"Am J Hum Genet"},{"key":"79_CR8","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/hmg\/ddn411","volume":"18","author":"B Mohapatra","year":"2009","unstructured":"Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fembach SD et al (2009) Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 18:861\u2013871","journal-title":"Hum Mol Genet"},{"key":"79_CR9","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","volume":"8","author":"M Fliegauf","year":"2007","unstructured":"Fliegauf M, Benzing T, Omran H (2007) When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 8:880\u2013893","journal-title":"Nat Rev Mol Cell Biol"},{"key":"79_CR10","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1126\/science.1084576","volume":"193","author":"BA Afzelius","year":"1976","unstructured":"Afzelius BA (1976) A human syndrome caused by immotile cilia. Science 193:317\u2013319","journal-title":"Science"},{"key":"79_CR11","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/319511","volume":"68","author":"C Guichard","year":"2001","unstructured":"Guichard C, Harricane MC, Lafitte JJ, Godard P, Zaegel M, Tack V et al (2001) Axonemal dynein intermediate-chain gene (DNAI1) mutatons result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet 68:1030\u20131035","journal-title":"Am J Hum Genet"},{"key":"79_CR12","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng817","volume":"3","author":"H Olbrich","year":"2002","unstructured":"Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G et al (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 3:143\u2013144","journal-title":"Nat Genet"},{"key":"79_CR13","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1136\/thorax.58.6.552-b","volume":"58","author":"A Kispert","year":"2003","unstructured":"Kispert A, Petry M, Olbrich H, Volz A, Ketelsen UP, Horvath J et al (2003) Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations. Thorax 58:552\u2013554","journal-title":"Thorax"},{"key":"79_CR14","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1164\/rccm.200601-084OC","volume":"174","author":"N Hornef","year":"2006","unstructured":"Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT et al (2006) DNAH5 mutations are common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 174:120\u2013126","journal-title":"Am J Respir Crit Care Med"},{"key":"79_CR15","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1164\/rccm.200603-370OC","volume":"174","author":"MA Zariwala","year":"2006","unstructured":"Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL et al (2006) Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med 174:858\u2013866","journal-title":"Am J Respir Crit Care Med"},{"key":"79_CR16","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1159\/000128567","volume":"76","author":"M Failly","year":"2008","unstructured":"Failly M, Saitta A, Munoz A et al (2008) DNAI1 mutations explain only 2\u00a0% of primary ciliary dyskinesia. Respiration 76:198\u2013204","journal-title":"Respiration"},{"key":"79_CR17","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2008.061176","volume":"46","author":"M Failly","year":"2009","unstructured":"Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C et al (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med Genet 46:281\u2013286","journal-title":"J Med Genet"},{"key":"79_CR18","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1002\/ppul.22520","volume":"47","author":"J Djakow","year":"2012","unstructured":"Djakow J, Svobodova T, Hrach K, Uhlik J, Cinek O, Pohunek P (2012) Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol 47:864\u2013875","journal-title":"Pediatr Pulmonol"},{"key":"79_CR19","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ajhg.2012.11.003","volume":"92","author":"MR Knowles","year":"2013","unstructured":"Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ et al (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet 92:99\u2013106","journal-title":"Am J Hum Genet"},{"key":"79_CR20","doi-asserted-by":"crossref","first-page":"10282","DOI":"10.1073\/pnas.152337699","volume":"99","author":"L Bartoloni","year":"2002","unstructured":"Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C et al (2002) Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci USA 99:10282\u201310286","journal-title":"Proc Natl Acad Sci USA"},{"key":"79_CR21","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jmg.2005.034868","volume":"43","author":"A Moore","year":"2006","unstructured":"Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S et al (2006) RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 43:326\u2013333","journal-title":"J Med Genet"},{"key":"79_CR22","doi-asserted-by":"crossref","first-page":"3336","DOI":"10.1073\/pnas.0611405104","volume":"104","author":"B Duriez","year":"2007","unstructured":"Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I et al (2007) A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci USA 104:3336\u20133341","journal-title":"Proc Natl Acad Sci USA"},{"key":"79_CR23","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ajhg.2008.10.001","volume":"83","author":"NT Loges","year":"2008","unstructured":"Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M et al (2008) DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 83:547\u2013558","journal-title":"Am J Hum Genet"},{"key":"79_CR24","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nature07471","volume":"456","author":"H Omuran","year":"2008","unstructured":"Omuran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hariwara H et al (2008) Ktu\/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 456:611\u2013616","journal-title":"Nature"},{"key":"79_CR25","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ajhg.2009.01.011","volume":"84","author":"VH Castleman","year":"2009","unstructured":"Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA et al (2009) Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet 84:197\u2013209","journal-title":"Am J Hum Genet"},{"key":"79_CR26","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.ajhg.2009.10.018","volume":"85","author":"NT Loges","year":"2009","unstructured":"Loges NT, Olbrich H, Becker-Heck A, Haffner K, Heer A, Reinhard C et al (2009) Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet 85:883\u2013889","journal-title":"Am J Hum Genet"},{"key":"79_CR27","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng.727","volume":"43","author":"A Becker-Heck","year":"2011","unstructured":"Becker-Heck A, Zohn IE, Okabe N, Pllock A, Lenhard KB, Sullivan-Brown J et al (2011) The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet 43:79\u201384","journal-title":"Nat Genet"},{"key":"79_CR28","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.ajhg.2011.03.018","volume":"88","author":"M Mazor","year":"2011","unstructured":"Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M et al (2011) Primary ciliary dyskinesia caused by homologous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet 88:599\u2013607","journal-title":"Am J Hum Genet"},{"key":"79_CR29","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.726","volume":"2011","author":"AC Merveille","year":"2011","unstructured":"Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G et al (2011) CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 2011:72\u201378","journal-title":"Nat Genet"},{"key":"79_CR30","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2012.08.022","volume":"91","author":"A Horani","year":"2012","unstructured":"Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG et al (2012) Whole-exome capture and sequencing identifies HEART2 mutaton as a cause of primary ciliary dyskinesia. Am J Hum Genet 91:685\u2013693","journal-title":"Am J Hum Genet"},{"key":"79_CR31","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/j.ajhg.2012.10.003","volume":"91","author":"E Kott","year":"2012","unstructured":"Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G et al (2012) Loss-of function mutationsin LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet 91:958\u2013964","journal-title":"Am J Hum Genet"},{"key":"79_CR32","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng.1106","volume":"44","author":"HM Mitchison","year":"2012","unstructured":"Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA et al (2012) Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet 44:381\u2013389","journal-title":"Nat Genet"},{"key":"79_CR33","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2012.08.016","volume":"91","author":"H Olbrich","year":"2012","unstructured":"Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J et al (2012) Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 91:672\u2013684","journal-title":"Am J Hum Genet"},{"key":"79_CR34","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/ng.2277","volume":"44","author":"JR Panizzi","year":"2012","unstructured":"Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT et al (2012) CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet 44:714\u2013719","journal-title":"Nat Genet"},{"key":"79_CR35","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ng.2533","volume":"45","author":"M Wirschell","year":"2013","unstructured":"Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS et al (2013) The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet 45:262\u2013268","journal-title":"Nat Genet"},{"key":"79_CR36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ajhg.2013.07.009","volume":"93","author":"A Moore","year":"2013","unstructured":"Moore A, Onoufriadis A, Shoemark A, Simpson MA, Zur Lage PI, de Castro SC et al (2013) Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet 93:1\u201311","journal-title":"Am J Hum Genet"},{"key":"79_CR37","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/ng.2707","volume":"45","author":"A Tarkar","year":"2013","unstructured":"Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV et al (2013) DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 45:995\u20131003","journal-title":"Nat Genet"},{"key":"79_CR38","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/jjco\/hyg005","volume":"33","author":"G Tate","year":"2003","unstructured":"Tate G, Li M, Suzuki T, Mitsuya T (2003) A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma. Jpn J Clin Oncol 33:47\u201350","journal-title":"Jpn J Clin Oncol"},{"key":"79_CR39","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"I Adzhubei","year":"2010","unstructured":"Adzhubei I, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249","journal-title":"Nat Methods"},{"key":"79_CR40","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131082","journal-title":"Nat Protoc"},{"key":"79_CR41","doi-asserted-by":"crossref","first-page":"2814","DOI":"10.1161\/CIRCULATIONAHA.106.649038","volume":"115","author":"MP Kennedy","year":"2007","unstructured":"Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL et al (2007) Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 115:2814\u20132821","journal-title":"Circulation"},{"key":"79_CR42","doi-asserted-by":"crossref","first-page":"17906","DOI":"10.1074\/jbc.M200348200","volume":"277","author":"YJ Zhang","year":"2002","unstructured":"Zhang YJ, O\u2019Neal WK, Randell SH, Blackburn K, Moyer MB, Boucher RC et al (2002) Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. J Biol Chem 277:17906\u201317915","journal-title":"J Biol Chem"}],"container-title":["Medical Molecular Morphology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00795-014-0079-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00795-014-0079-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00795-014-0079-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,11]],"date-time":"2019-08-11T11:39:14Z","timestamp":1565523554000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00795-014-0079-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,10]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["79"],"URL":"https:\/\/doi.org\/10.1007\/s00795-014-0079-7","relation":{},"ISSN":["1860-1480","1860-1499"],"issn-type":[{"value":"1860-1480","type":"print"},{"value":"1860-1499","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,10]]}}}