{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:51:34Z","timestamp":1790952694673,"version":"4.1.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,6,7]],"date-time":"2017-06-07T00:00:00Z","timestamp":1496793600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2017,6,7]],"date-time":"2017-06-07T00:00:00Z","timestamp":1496793600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of V\u00e4sterbotten in Northern Sweden. All afflicted individuals had an onset in early infancy with optic atrophy, and in four patients anemia was present at diagnosis. Tonsillar herniation, foramen magnum stenosis, and severe osteomyelitis of the jaw were common clinical features. Whole exome sequencing, verified by Sanger sequencing, identified a splice site mutation c.212\u2009+\u20091\u2009G\u2009&gt;\u2009T in the <jats:italic>SNX10<\/jats:italic> gene encoding sorting nexin\u00a010. Sequence analysis of the <jats:italic>SNX10<\/jats:italic> transcript in patients revealed activation of a cryptic splice site in intron 4 resulting in a frame shift and a premature stop (p.S66Nfs\u2009*\u200915). Haplotype analysis showed that all cases originated from a single mutational event, and the age of the mutation was estimated to be approximately 950 years. Functional analysis of osteoclast progenitors isolated from peripheral blood of patients revealed that stimulation with receptor activator of nuclear factor kappa-B ligand (<jats:italic>RANKL<\/jats:italic>) resulted in a robust formation of large, multinucleated osteoclasts which generated sealing zones; however these osteoclasts exhibited defective ruffled borders and were unable to resorb bone <jats:italic>in vitro<\/jats:italic>.<\/jats:p>","DOI":"10.1038\/s41598-017-02533-2","type":"journal-article","created":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T14:41:32Z","timestamp":1496328092000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts"],"prefix":"10.1038","volume":"7","author":[{"given":"Eva-Lena","family":"Stattin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Henning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4185-7409","authenticated-orcid":false,"given":"Joakim","family":"Klar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"McDermott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Stecksen-Blicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per-Erik","family":"Sandstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Therese G.","family":"Kellgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrik","family":"Ryd\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"Hallmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torsten","family":"L\u00f6nnerholm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Ameur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miep H.","family":"Helfrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fraser P.","family":"Coxon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas","family":"Dahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"Wikstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf H.","family":"Lerner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,6,7]]},"reference":[{"key":"2533_CR1","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1038\/77131","volume":"25","author":"A Frattini","year":"2000","unstructured":"Frattini, A. et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature genetics \n                           25, 343\u2013346, doi:10.1038\/77131 (2000).","journal-title":"Nature genetics"},{"key":"2533_CR2","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","volume":"104","author":"U Kornak","year":"2001","unstructured":"Kornak, U. et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell \n                           104, 205\u2013215, doi:10.1016\/S0092-8674(01)00206-9 (2001).","journal-title":"Cell"},{"key":"2533_CR3","doi-asserted-by":"publisher","first-page":"1767","DOI":"10.1093\/hmg\/10.17.1767","volume":"10","author":"C Sobacchi","year":"2001","unstructured":"Sobacchi, C. et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Human molecular genetics \n                           10, 1767\u20131773, doi:10.1093\/hmg\/10.17.1767 (2001).","journal-title":"Human molecular genetics"},{"key":"2533_CR4","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1038\/nrendo.2013.137","volume":"9","author":"C Sobacchi","year":"2013","unstructured":"Sobacchi, C., Schulz, A., Coxon, F. P., Villa, A. & Helfrich, M. H. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nature reviews. Endocrinology \n                           9, 522\u2013536, doi:10.1038\/nrendo.2013.137 (2013).","journal-title":"Nature reviews. Endocrinology"},{"key":"2533_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00223-008-9196-4","volume":"84","author":"A Villa","year":"2009","unstructured":"Villa, A., Guerrini, M. M., Cassani, B., Pangrazio, A. & Sobacchi, C. Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. Calcified tissue international \n                           84, 1\u201312, doi:10.1007\/s00223-008-9196-4 (2009).","journal-title":"Calcified tissue international"},{"key":"2533_CR6","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1111\/j.1365-2141.2008.06983.x","volume":"140","author":"MK Askmyr","year":"2008","unstructured":"Askmyr, M. K., Fasth, A. & Richter, J. Towards a better understanding and new therapeutics of osteopetrosis. British journal of haematology \n                           140, 597\u2013609, doi:10.1111\/j.1365-2141.2008.06983.x (2008).","journal-title":"British journal of haematology"},{"key":"2533_CR7","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1002\/ajh.21454","volume":"84","author":"A Fasth","year":"2009","unstructured":"Fasth, A. Osteopetrosis\u2013more than only a disease of the bone. American journal of hematology \n                           84, 469\u2013470, doi:10.1002\/ajh.21454 (2009).","journal-title":"American journal of hematology"},{"key":"2533_CR8","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1038\/ejhg.2008.234","volume":"17","author":"EA Bliznetz","year":"2009","unstructured":"Bliznetz, E. A. et al. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. European journal of human genetics: EJHG \n                           17, 664\u2013672, doi:10.1038\/ejhg.2008.234 (2009).","journal-title":"European journal of human genetics: EJHG"},{"key":"2533_CR9","first-page":"69","volume":"36","author":"SR Phadke","year":"1999","unstructured":"Phadke, S. R. et al. Malignant recessive osteopetrosis. Indian pediatrics \n                           36, 69\u201374 (1999).","journal-title":"Indian pediatrics"},{"key":"2533_CR10","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1136\/jmedgenet-2011-100520","volume":"49","author":"M Aker","year":"2012","unstructured":"Aker, M. et al. An SNX10 mutation causes malignant osteopetrosis of infancy. Journal of medical genetics \n                           49, 221\u2013226, doi:10.1136\/jmedgenet-2011-100520 (2012).","journal-title":"Journal of medical genetics"},{"key":"2533_CR11","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.ejmg.2012.10.010","volume":"56","author":"A Megarbane","year":"2013","unstructured":"Megarbane, A. et al. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. European journal of medical genetics \n                           56, 32\u201335, doi:10.1016\/j.ejmg.2012.10.010 (2013).","journal-title":"European journal of medical genetics"},{"key":"2533_CR12","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1002\/jbmr.1849","volume":"28","author":"A Pangrazio","year":"2013","unstructured":"Pangrazio, A. et al. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research \n                           28, 1041\u20131049, doi:10.1002\/jbmr.1849 (2013).","journal-title":"Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research"},{"key":"2533_CR13","doi-asserted-by":"publisher","first-page":"bau098","DOI":"10.1093\/database\/bau098","volume":"2014","author":"A Ameur","year":"2014","unstructured":"Ameur, A., Bunikis, I., Enroth, S. & Gyllensten, U. CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects. Database: the journal of biological databases and curation \n                           2014, bau098\u2013bau098, doi:10.1093\/database\/bau098 (2014).","journal-title":"Database: the journal of biological databases and curation"},{"key":"2533_CR14","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"C Genomes Project","year":"2015","unstructured":"Genomes Project, C. et al. A global reference for human genetic variation. Nature \n                           526, 68\u201374, doi:10.1038\/nature15393 (2015).","journal-title":"Nature"},{"key":"2533_CR15","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/ng1192-204","volume":"2","author":"J Hastbacka","year":"1992","unstructured":"Hastbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature genetics \n                           2, 204\u2013211, doi:10.1038\/ng1192-204 (1992).","journal-title":"Nature genetics"},{"key":"2533_CR16","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1093\/clinchem\/46.11.1751","volume":"46","author":"SL Alatalo","year":"2000","unstructured":"Alatalo, S. L., Halleen, J. M., Hentunen, T. A., Monkkonen, J. & Vaananen, H. K. Rapid screening method for osteoclast differentiation in vitro that measures tartrate-resistant acid phosphatase 5b activity secreted into the culture medium. Clinical chemistry \n                           46, 1751\u20131754 (2000).","journal-title":"Clinical chemistry"},{"key":"2533_CR17","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1084\/jem.20040518","volume":"200","author":"T Kukita","year":"2004","unstructured":"Kukita, T. et al. RANKL-induced DC-STAMP is essential for osteoclastogenesis. The Journal of experimental medicine \n                           200, 941\u2013946, doi:10.1084\/jem.20040518 (2004).","journal-title":"The Journal of experimental medicine"},{"key":"2533_CR18","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1084\/jem.20050645","volume":"202","author":"M Yagi","year":"2005","unstructured":"Yagi, M. et al. DC-STAMP is essential for cell-cell fusion in osteoclasts and foreign body giant cells. The Journal of experimental medicine \n                           202, 345\u2013351, doi:10.1084\/jem.20050645 (2005).","journal-title":"The Journal of experimental medicine"},{"key":"2533_CR19","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1002\/jcp.21331","volume":"215","author":"M Yang","year":"2007","unstructured":"Yang, M., Birnbaum, M. J., Mackay, C. A., Mason-Savas, A., Thompson, B. & Odgren, P. R. Osteoclast stimulatory transmembrane protein (OC-STAMP), a novel protein induced by RANKL that promotes osteoclast differentiation. Journal of Cellular Physiology \n                           215, 497\u2013505, doi:10.1002\/jcp.21331 (2007).\u00a0","journal-title":"Journal of Cellular Physiology"},{"key":"2533_CR20","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1016\/j.bone.2010.11.011","volume":"48","author":"K Soe","year":"2011","unstructured":"Soe, K. et al. Involvement of human endogenous retroviral syncytin-1 in human osteoclast fusion. Bone \n                           48, 837\u2013846, doi:10.1016\/j.bone.2010.11.011 (2011).","journal-title":"Bone"},{"key":"2533_CR21","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1172\/JCI30328","volume":"117","author":"L Van Wesenbeeck","year":"2007","unstructured":"Van Wesenbeeck, L. et al. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. The Journal of clinical investigation \n                           117, 919\u2013930, doi:10.1172\/JCI30328 (2007).","journal-title":"The Journal of clinical investigation"},{"key":"2533_CR22","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1177\/36.1.2447153","volume":"36","author":"M Takagi","year":"1988","unstructured":"Takagi, M., Yagasaki, H., Baba, T. & Baba, H. Ultrastructural visualization of selective peanut agglutinin binding sites in rat osteoclasts. The journal of histochemistry and cytochemistry: official journal of the Histochemistry Society \n                           36, 95\u2013101, doi:10.1177\/36.1.2447153 (1988).","journal-title":"The journal of histochemistry and cytochemistry: official journal of the Histochemistry Society"},{"issue":"Pt 2","key":"2533_CR23","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1242\/jcs.109.2.301","volume":"109","author":"J Salo","year":"1996","unstructured":"Salo, J., Metsikko, K., Palokangas, H., Lehenkari, P. & Vaananen, H. K. Bone-resorbing osteoclasts reveal a dynamic division of basal plasma membrane into two different domains. Journal of cell science \n                           109(Pt 2), 301\u2013307 (1996).","journal-title":"Journal of cell science"},{"key":"2533_CR24","doi-asserted-by":"publisher","unstructured":"Palagano, E. et al. Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research, doi:10.1002\/jbmr.2517 (2015).","DOI":"10.1002\/jbmr.2517"},{"key":"2533_CR25","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1002\/ajmg.1320170208","volume":"17","author":"SG Kahler","year":"1984","unstructured":"Kahler, S. G., Burns, J. A. & Aylsworth, A. S. A mild autosomal recessive form of osteopetrosis. American journal of medical genetics \n                           17, 451\u2013464, doi:10.1002\/ajmg.1320170208 (1984).","journal-title":"American journal of medical genetics"},{"key":"2533_CR26","unstructured":"Whyte, M. P. Primer on the Metabolic Bone Diseases and Disorders od Mineral Metabolism. 4th edn, 367\u2013383 (Lippincott Williams & Wilkins, 1999)."},{"key":"2533_CR27","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1007\/s00439-002-0861-9","volume":"112","author":"AB Campos-Xavier","year":"2003","unstructured":"Campos-Xavier, A. B., Saraiva, J. M., Ribeiro, L. M., Munnich, A. & Cormier-Daire, V. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Human genetics \n                           112, 186\u2013189, doi:10.1007\/s00439-002-0861-9 (2003).","journal-title":"Human genetics"},{"key":"2533_CR28","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1227\/00006123-198703000-00025","volume":"20","author":"L McCleary","year":"1987","unstructured":"McCleary, L., Rovit, R. L. & Murali, R. Case report: myelopathy secondary to congenital osteopetrosis of the cervical spine. Neurosurgery \n                           20, 487\u2013489, doi:10.1227\/00006123-198703000-00025 (1987).","journal-title":"Neurosurgery"},{"key":"2533_CR29","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1148\/radiology.183.1.1549658","volume":"183","author":"AD Elster","year":"1992","unstructured":"Elster, A. D., Theros, E. G., Key, L. L. & Chen, M. Y. Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium. Radiology \n                           183, 129\u2013135, doi:10.1148\/radiology.183.1.1549658 (1992).","journal-title":"Radiology"},{"key":"2533_CR30","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1007\/BF00626090","volume":"38","author":"A Sari","year":"1996","unstructured":"Sari, A. & Demirci, A. Radiographic type I autosomal dominant osteopetrosis with syringohydromyelia. Neuroradiology \n                           38, 532\u2013533, doi:10.1007\/BF00626090 (1996).","journal-title":"Neuroradiology"},{"key":"2533_CR31","doi-asserted-by":"publisher","first-page":"103","DOI":"10.3171\/PED-08\/01\/103","volume":"1","author":"YZ Al-Tamimi","year":"2008","unstructured":"Al-Tamimi, Y. Z., Tyagi, A. K., Chumas, P. D. & Crimmins, D. W. Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. Journal of neurosurgery. Pediatrics \n                           1, 103\u2013106, doi:10.3171\/PED-08\/01\/103 (2008).","journal-title":"Journal of neurosurgery. Pediatrics"},{"key":"2533_CR32","first-page":"1110","volume":"21","author":"JK Cure","year":"2000","unstructured":"Cure, J. K., Key, L. L., Goltra, D. D. & VanTassel, P. Cranial MR imaging of osteopetrosis. AJNR. American journal of neuroradiology \n                           21, 1110\u20131115 (2000).","journal-title":"AJNR. American journal of neuroradiology"},{"key":"2533_CR33","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.ejmg.2012.10.001","volume":"56","author":"Z Stark","year":"2013","unstructured":"Stark, Z., Pangrazio, A., McGillivray, G. & Fink, A. M. Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature. European journal of medical genetics \n                           56, 36\u201338, doi:10.1016\/j.ejmg.2012.10.001 (2013).","journal-title":"European journal of medical genetics"},{"key":"2533_CR34","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1159\/000120923","volume":"22","author":"H Rees","year":"1995","unstructured":"Rees, H., Ang, L. C., Casey, R. & George, D. H. Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder. Pediatric neurosurgery \n                           22, 321\u2013327, doi:10.1159\/000120923 (1995).","journal-title":"Pediatric neurosurgery"},{"key":"2533_CR35","first-page":"528","volume":"67","author":"H Ben Hamouda","year":"2001","unstructured":"Ben Hamouda, H. et al. Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. Acta orthopaedica Belgica \n                           67, 528\u2013532 (2001).","journal-title":"Acta orthopaedica Belgica"},{"key":"2533_CR36","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1136\/adc.2010.194928","volume":"95","author":"M Abinun","year":"2010","unstructured":"Abinun, M. & Pieniazek, P. Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation. Archives of disease in childhood \n                           95, 984\u2013984, doi:10.1136\/adc.2010.194928 (2010).","journal-title":"Archives of disease in childhood"},{"key":"2533_CR37","doi-asserted-by":"publisher","first-page":"e1005057","DOI":"10.1371\/journal.pgen.1005057","volume":"11","author":"L Ye","year":"2015","unstructured":"Ye, L. et al. Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption. PLoS genetics \n                           11, e1005057, doi:10.1371\/journal.pgen.1005057 (2015).","journal-title":"PLoS genetics"},{"key":"2533_CR38","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/0002-9343(80)90501-X","volume":"69","author":"MP Whyte","year":"1980","unstructured":"Whyte, M. P. et al. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. The American journal of medicine \n                           69, 64\u201374, doi:10.1016\/0002-9343(80)90501-X (1980).","journal-title":"The American journal of medicine"},{"key":"2533_CR39","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1159\/000182216","volume":"28","author":"E Bourke","year":"1981","unstructured":"Bourke, E., Delaney, V. B., Mosawi, M., Reavey, P. & Weston, M. Renal tubular acidosis and osteopetrosis in siblings. Nephron \n                           28, 268\u2013272, doi:10.1159\/000182216 (1981).","journal-title":"Nephron"},{"key":"2533_CR40","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1111\/j.1469-8749.1980.tb04307.x","volume":"22","author":"A Ohlsson","year":"1980","unstructured":"Ohlsson, A., Stark, G. & Sakati, N. Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. Developmental medicine and child neurology \n                           22, 72\u201384, doi:10.1111\/j.1469-8749.1980.tb04307.x (1980).","journal-title":"Developmental medicine and child neurology"},{"key":"2533_CR41","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1007\/BF01957934","volume":"151","author":"PJ Patel","year":"1992","unstructured":"Patel, P. J., Kolawole, T. M., al-Mofada, S., Malabarey, T. M. & Hulailah, A. Osteopetrosis: brain ultrasound and computed tomography findings. European journal of pediatrics \n                           151, 827\u2013828, doi:10.1007\/BF01957934 (1992).","journal-title":"European journal of pediatrics"},{"key":"2533_CR42","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.1002\/jcb.24029","volume":"113","author":"CH Zhu","year":"2012","unstructured":"Zhu, C. H., Morse, L. R. & Battaglino, R. A. SNX10 is required for osteoclast formation and resorption activity. Journal of cellular biochemistry \n                           113, 1608\u20131615, doi:10.1002\/jcb.24029 (2012).","journal-title":"Journal of cellular biochemistry"},{"key":"2533_CR43","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1136\/annrheumdis-2014-207134","volume":"75","author":"C Zhou","year":"2016","unstructured":"Zhou, C. et al. Deficiency of sorting nexin 10 prevents bone erosion in collagen-induced mouse arthritis through promoting NFATc1 degradation. Ann Rheum Dis \n                           75, 1211\u20131218, doi:10.1136\/annrheumdis-2014-207134 (2016).","journal-title":"Ann Rheum Dis"},{"key":"2533_CR44","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1080\/pdp.22.1.3.9","volume":"22","author":"E Bruder","year":"2003","unstructured":"Bruder, E., Stallmach, T., Peier, K., Superti-Furga, A. & Vezzoni, P. Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. Pediatric pathology & molecular medicine \n                           22, 3\u20139 (2003).","journal-title":"Pediatric pathology & molecular medicine"},{"key":"2533_CR45","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1042\/BJ20111226","volume":"441","author":"RD Teasdale","year":"2012","unstructured":"Teasdale, R. D. & Collins, B. M. Insights into the PX (phox-homology) domain and SNX (sorting nexin) protein families: structures, functions and roles in disease. Biochem J \n                           441, 39\u201359, doi:10.1042\/BJ20111226 (2012).","journal-title":"Biochem J"},{"key":"2533_CR46","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1111\/j.1600-0854.2005.00260.x","volume":"6","author":"J Carlton","year":"2005","unstructured":"Carlton, J., Bujny, M., Rutherford, A. & Cullen, P. Sorting nexins\u2013unifying trends and new perspectives. Traffic \n                           6, 75\u201382, doi:10.1111\/j.1600-0854.2005.00260.x (2005).","journal-title":"Traffic"},{"key":"2533_CR47","doi-asserted-by":"publisher","first-page":"36891","DOI":"10.1074\/jbc.M608884200","volume":"281","author":"B Qin","year":"2006","unstructured":"Qin, B., He, M., Chen, X. & Pei, D. Sorting nexin 10 induces giant vacuoles in mammalian cells. The Journal of biological chemistry \n                           281, 36891\u201336896, doi:10.1074\/jbc.M608884200 (2006).","journal-title":"The Journal of biological chemistry"},{"key":"2533_CR48","doi-asserted-by":"publisher","first-page":"3483","DOI":"10.1002\/prot.24689","volume":"82","author":"T Xu","year":"2014","unstructured":"Xu, T. et al. Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis. Proteins \n                           82, 3483\u20133489, doi:10.1002\/prot.24689 (2014).","journal-title":"Proteins"},{"key":"2533_CR49","doi-asserted-by":"publisher","first-page":"16598","DOI":"10.1074\/jbc.M112.449306","volume":"288","author":"J Xu","year":"2013","unstructured":"Xu, J. et al. Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation. The Journal of biological chemistry \n                           288, 16598\u201316605, doi:10.1074\/jbc.M112.449306 (2013).","journal-title":"The Journal of biological chemistry"},{"key":"2533_CR50","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1080\/14034950310001432","volume":"61","author":"G Hallmans","year":"2003","unstructured":"Hallmans, G. et al. Cardiovascular disease and diabetes in the Northern Sweden Health and Disease Study Cohort - evaluation of risk factors and their interactions. Scandinavian journal of public health. Supplement \n                           61, 18\u201324, doi:10.1080\/14034950310001432 (2003).","journal-title":"Scandinavian journal of public health. Supplement"},{"key":"2533_CR51","doi-asserted-by":"publisher","first-page":"1624","DOI":"10.1124\/mol.105.020776","volume":"69","author":"K Thompson","year":"2006","unstructured":"Thompson, K., Rogers, M. J., Coxon, F. P. & Crockett, J. C. Cytosolic entry of bisphosphonate drugs requires acidification of vesicles after fluid-phase endocytosis. Molecular pharmacology \n                           69, 1624\u20131632, doi:10.1124\/mol.105.020776 (2006).","journal-title":"Molecular pharmacology"},{"key":"2533_CR52","doi-asserted-by":"publisher","first-page":"131","DOI":"10.4161\/sgtp.2.3.16488","volume":"2","author":"A Taylor","year":"2011","unstructured":"Taylor, A. et al. Impaired prenylation of Rab GTPases in the gunmetal mouse causes defects in bone cell function. Small GTPases \n                           2, 131\u2013142, doi:10.4161\/sgtp.2.3.16488 (2011).","journal-title":"Small GTPases"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-02533-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-02533-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-02533-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T05:02:17Z","timestamp":1671771737000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-02533-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,7]]},"references-count":52,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,12]]}},"alternative-id":["2533"],"URL":"https:\/\/doi.org\/10.1038\/s41598-017-02533-2","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,7]]},"assertion":[{"value":"8 November 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 April 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare that they have no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"3012"}}