{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T00:46:04Z","timestamp":1784767564177,"version":"3.55.0"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2012,8,15]],"date-time":"2012-08-15T00:00:00Z","timestamp":1344988800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1038\/ejhg.2012.170","type":"journal-article","created":{"date-parts":[[2012,8,15]],"date-time":"2012-08-15T10:32:18Z","timestamp":1345026738000},"page":"281-285","source":"Crossref","is-referenced-by-count":126,"title":["Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion"],"prefix":"10.1038","volume":"21","author":[{"given":"Onur","family":"Emre Onat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suleyman","family":"Gulsuner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Nazli Basak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Topaloglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meliha","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uner","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Gunel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayfun","family":"Ozcelik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,8,15]]},"reference":[{"key":"BFejhg2012170_CR1","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1080\/00207450500455330","volume":"116","author":"U Tan","year":"2006","unstructured":"Tan U : A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution. Int J Neurosci 2006; 116: 361\u2013369.","journal-title":"Int J Neurosci"},{"key":"BFejhg2012170_CR2","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1136\/jmg.2005.040030","volume":"43","author":"S Turkmen","year":"2006","unstructured":"Turkmen S, Demirhan O, Hoffmann K et al. Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J Med Genet 2006; 43: 461\u2013464.","journal-title":"J Med Genet"},{"key":"BFejhg2012170_CR3","doi-asserted-by":"publisher","first-page":"4232","DOI":"10.1073\/pnas.0710010105","volume":"105","author":"T Ozcelik","year":"2008","unstructured":"Ozcelik T, Akarsu N, Uz E et al. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA 2008; 105: 4232\u20134236.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2012170_CR4","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/sj.ejhg.5201967","volume":"16","author":"LA Moheb","year":"2008","unstructured":"Moheb LA, Tzschach A, Garshasbi M et al. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet 2008; 16: 270\u2013273.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2012170_CR5","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1007\/s10048-009-0232-y","volume":"11","author":"LE Kolb","year":"2010","unstructured":"Kolb LE, Arlier Z, Yalcinkaya C et al. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 2010; 11: 319\u2013325.","journal-title":"Neurogenetics"},{"key":"BFejhg2012170_CR6","doi-asserted-by":"publisher","first-page":"e1000487","DOI":"10.1371\/journal.pgen.1000487","volume":"5","author":"S Turkmen","year":"2009","unstructured":"Turkmen S, Guo G, Garshasbi M et al. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet 2009; 5: e1000487.","journal-title":"PLoS Genet"},{"key":"BFejhg2012170_CR7","doi-asserted-by":"publisher","first-page":"1995","DOI":"10.1101\/gr.126110.111","volume":"21","author":"S Gulsuner","year":"2011","unstructured":"Gulsuner S, Tekinay AB, Doerschner K et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res 2011; 21: 1995\u20132003.","journal-title":"Genome Res"},{"key":"BFejhg2012170_CR8","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1086\/444400","volume":"77","author":"KM Boycott","year":"2005","unstructured":"Boycott KM, Flavelle S, Bureau A et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005; 77: 477\u2013483.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012170_CR9","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1080\/00207450600588733","volume":"116","author":"U Tan","year":"2006","unstructured":"Tan U : Evidence for \u2018Unertan Syndrome\u2019 and the evolution of the human mind. Int J Neurosci 2006; 116: 763\u2013774.","journal-title":"Int J Neurosci"},{"key":"BFejhg2012170_CR10","doi-asserted-by":"publisher","first-page":"1360","DOI":"10.1038\/ejhg.2010.126","volume":"18","author":"P Cacciagli","year":"2010","unstructured":"Cacciagli P, Haddad MR, Mignon-Ravix C et al. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet 2010; 18: 1360\u20131363.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2012170_CR11","doi-asserted-by":"publisher","first-page":"W593","DOI":"10.1093\/nar\/gkp369","volume":"37","author":"D Seelow","year":"2009","unstructured":"Seelow D, Schuelke M, Hildebrandt F et al. HomozygosityMapper\u2014an interactive approach to homozygosity mapping. Nucleic Acids Res 2009; 37: W593\u2013W599.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2012170_CR12","doi-asserted-by":"publisher","first-page":"1851","DOI":"10.1101\/gr.078212.108","volume":"18","author":"H Li","year":"2008","unstructured":"Li H, Ruan J, Durbin R : Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 2008; 18: 1851\u20131858.","journal-title":"Genome Res"},{"key":"BFejhg2012170_CR13","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A et al. The Sequence Alignment\/Map format and SAMtools. Bioinformatics 2009; 25: 2078\u20132079.","journal-title":"Bioinformatics"},{"key":"BFejhg2012170_CR14","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li H, Durbin R : Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010; 26: 589\u2013595.","journal-title":"Bioinformatics"},{"key":"BFejhg2012170_CR15","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","volume":"26","author":"AR Quinlan","year":"2010","unstructured":"Quinlan AR, Hall IM : BE DTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 2010; 26: 841\u2013842.","journal-title":"Bioinformatics"},{"key":"BFejhg2012170_CR16","doi-asserted-by":"publisher","first-page":"D800","DOI":"10.1093\/nar\/gkq1064","volume":"39","author":"P Flicek","year":"2011","unstructured":"Flicek P, Amode MR, Barrell D et al. Ensembl 2011. Nucleic Acids Res 2011; 39: D800\u2013D806.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2012170_CR17","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1101\/gr.176601","volume":"11","author":"PC Ng","year":"2001","unstructured":"Ng PC, Henikoff S : Predicting deleterious amino acid substitutions. Genome Res 2001; 11: 863\u2013874.","journal-title":"Genome Res"},{"key":"BFejhg2012170_CR18","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248\u2013249.","journal-title":"Nat Methods"},{"key":"BFejhg2012170_CR19","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575\u2013576.","journal-title":"Nat Methods"},{"key":"BFejhg2012170_CR20","doi-asserted-by":"publisher","first-page":"e1001025","DOI":"10.1371\/journal.pcbi.1001025","volume":"6","author":"EV Davydov","year":"2010","unstructured":"Davydov EV, Goode DL, Sirota M et al. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol 2010; 6: e1001025.","journal-title":"PLoS Comput Biol"},{"key":"BFejhg2012170_CR21","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1101\/gr.3577405","volume":"15","author":"GM Cooper","year":"2005","unstructured":"Cooper GM, Stone EA, Asimenos G et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 2005; 15: 901\u2013913.","journal-title":"Genome Res"},{"key":"BFejhg2012170_CR22","doi-asserted-by":"publisher","first-page":"D211","DOI":"10.1093\/nar\/gkp985","volume":"38","author":"RD Finn","year":"2010","unstructured":"Finn RD, Mistry J, Tate J et al. The Pfam protein families database. Nucleic Acids Res 2010; 38: D211\u2013D222.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2012170_CR23","doi-asserted-by":"publisher","first-page":"W36","DOI":"10.1093\/nar\/gki410","volume":"33","author":"K Bryson","year":"2005","unstructured":"Bryson K, McGuffin LJ, Marsden RL et al. Protein structure prediction servers at University College London. Nucleic Acids Res 2005; 33: W36\u2013W38.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2012170_CR24","doi-asserted-by":"publisher","first-page":"1257","DOI":"10.1002\/pmic.200700724","volume":"8","author":"D Hartl","year":"2008","unstructured":"Hartl D, Irmler M, Romer I et al. Transcriptome and proteome analysis of early embryonic mouse brain development. Proteomics 2008; 8: 1257\u20131265.","journal-title":"Proteomics"},{"key":"BFejhg2012170_CR25","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1038\/nprot.2008.211","volume":"4","author":"W Huang da","year":"2009","unstructured":"Huang da W, Sherman BT, Lempicki RA : Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 2009; 4: 44\u201357.","journal-title":"Nat Protoc"},{"key":"BFejhg2012170_CR26","first-page":"365","volume":"132","author":"S Rozen","year":"2000","unstructured":"Rozen S, Skaletsky H : Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132: 365\u2013386.","journal-title":"Methods Mol Biol"},{"key":"BFejhg2012170_CR27","doi-asserted-by":"publisher","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","volume":"29","author":"MW Pfaffl","year":"2001","unstructured":"Pfaffl MW : A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 2001; 29: e45.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2012170_CR28","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1152\/physiolgenomics.1999.1.3.139","volume":"1","author":"MS Halleck","year":"1999","unstructured":"Halleck MS, Lawler JFJR, Blackshaw S et al. Differential expression of putative transbilayer amphipath transporters. Physiol Genomics 1999; 1: 139\u2013150.","journal-title":"Physiol Genomics"},{"key":"BFejhg2012170_CR29","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1016\/j.ceb.2010.05.002","volume":"22","author":"TR Graham","year":"2010","unstructured":"Graham TR, Kozlow MM : Interplay of proteins and lipids in generating membrane curvature. Curr Opin Cell Biol 2010; 22: 430\u2013436.","journal-title":"Curr Opin Cell Biol"},{"key":"BFejhg2012170_CR30","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1016\/j.bbalip.2009.02.005","volume":"1791","author":"CF Puts","year":"2009","unstructured":"Puts CF, Holthuis JC : Mechanism and significance of P4 ATPase-catalyzed lipid transport: Lessons from a Na+\/K+-pump. Biochim Biophys Acta 2009; 1791: 603\u2013611.","journal-title":"Biochim Biophys Acta"},{"key":"BFejhg2012170_CR31","first-page":"19","volume":"28","author":"M Meguro","year":"2001","unstructured":"Meguro M, Kashiwagi A, Mitsuya K et al. A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nat Genet 2001; 28: 19\u201320.","journal-title":"Nat Genet"},{"key":"BFejhg2012170_CR32","doi-asserted-by":"publisher","first-page":"9709","DOI":"10.1073\/pnas.0807919106","volume":"106","author":"JM Stapelbroek","year":"2009","unstructured":"Stapelbroek JM, Peters TA, vanBeurden DH et al. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci USA 2009; 106: 9709\u20139714.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2012170_CR33","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1002\/hep.20285","volume":"40","author":"LWJ Klomp","year":"2004","unstructured":"Klomp LWJ, Vargas JC, van Mil SWC et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004; 40: 27\u201338.","journal-title":"Hepatology"},{"key":"BFejhg2012170_CR34","doi-asserted-by":"publisher","first-page":"32670","DOI":"10.1074\/jbc.M109.047415","volume":"284","author":"JA Coleman","year":"2009","unstructured":"Coleman JA, Kwok MC, Molday RS : Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. J Biol Chem 2009; 284: 32670\u201332679.","journal-title":"J Biol Chem"},{"key":"BFejhg2012170_CR35","doi-asserted-by":"publisher","first-page":"R130","DOI":"10.1186\/gb-2009-10-11-r130","volume":"10","author":"C Wu","year":"2009","unstructured":"Wu C, Orozco C, Boyer J et al. BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol 2009; 10: R130.","journal-title":"Genome Biol"},{"key":"BFejhg2012170_CR36","unstructured":"Sarac O, Gulsuner S, Yildiz-Tasci Y et al. Neuro-opthalmologic findings in humans with quadrupedal locomotion. Ophthalmic Genet 2012, e-pub ahead of print 11 June 2012; PMID: 22686558."},{"key":"BFejhg2012170_CR37","doi-asserted-by":"publisher","first-page":"2208","DOI":"10.1167\/iovs.06-1019","volume":"48","author":"D Cohen","year":"2007","unstructured":"Cohen D, Bar-Yosef U, Levy J et al. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 2007; 48: 2208\u20132213.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2012170_CR38","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1002\/ajmg.a.30371","volume":"132","author":"T Harel","year":"2005","unstructured":"Harel T, Rabinowitz R, Hendler N et al. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). Am J Med Genet A 2005; 132: 33\u201335.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2012170_CR39","unstructured":"Markus B, Narkis G, Landau D et al. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat 2012, e-pub ahead of print 18 May 2012 doi:10.1002\/humu.22122PMID: 22610851."}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012170.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012170","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012170.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:06:13Z","timestamp":1684429573000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2012170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,15]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["BFejhg2012170"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2012.170","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,15]]}}}