{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T10:12:25Z","timestamp":1780654345718,"version":"3.54.1"},"reference-count":35,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T00:00:00Z","timestamp":1495065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Science and Technology Program of Jiangsu Province","award":["BL2014072"],"award-info":[{"award-number":["BL2014072"]}]},{"name":"Science and Technology Development Project of Nanjing","award":["No. 201402008"],"award-info":[{"award-number":["No. 201402008"]}]},{"name":"Science and Technology Development Project of Nanjing","award":["No. 201503010"],"award-info":[{"award-number":["No. 201503010"]}]},{"name":"National Key Clinical Program of China","award":["2014ZDZK003"],"award-info":[{"award-number":["2014ZDZK003"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0177685","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T19:51:59Z","timestamp":1495741919000},"page":"e0177685","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":21,"title":["Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome"],"prefix":"10.1371","volume":"12","author":[{"given":"Jian-Hong","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu-Xiu","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-Xia","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-Yi","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Song","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Chao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Er-Zhi","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Lin","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng-Xia","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu-Yue","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Asan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi-Hong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,5,18]]},"reference":[{"issue":"3454","key":"ref1","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary Familial Congenital Haemorrhagic Nephritis","volume":"1","author":"AC Alport","year":"1927","journal-title":"Br Med J"},{"issue":"5","key":"ref2","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/S0272-6386(12)80424-0","article-title":"Alport syndrome: from bedside to genome to bedside","volume":"22","author":"CE Kashtan","year":"1993","journal-title":"American journal of kidney diseases: the official journal of the National Kidney Foundation"},{"issue":"10","key":"ref3","doi-asserted-by":"crossref","first-page":"2514","DOI":"10.1097\/01.ASN.0000141462.00630.76","article-title":"The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family","volume":"15","author":"BG Hudson","year":"2004","journal-title":"Journal of the American Society of Nephrology: JASN"},{"issue":"3","key":"ref4","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/nrneph.2012.259","article-title":"Alport syndrome\u2014insights from basic and clinical research","volume":"9","author":"J Kruegel","year":"2013","journal-title":"Nature reviews Nephrology"},{"issue":"5","key":"ref5","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/jemt.20564","article-title":"Mammalian collagen IV","volume":"71","author":"J Khoshnoodi","year":"2008","journal-title":"Microsc Res Tech"},{"issue":"2","key":"ref6","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1046\/j.1523-1755.1999.00601.x","article-title":"Making the diagnosis of Alport&apos;s syndrome","volume":"56","author":"Y Pirson","year":"1999","journal-title":"Kidney international"},{"issue":"6","key":"ref7","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1046\/j.1523-1755.2002.00379.x","article-title":"COL4A3\/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome","volume":"61","author":"I Longo","year":"2002","journal-title":"Kidney international"},{"issue":"5","key":"ref8","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1093\/ndt\/gfn681","article-title":"Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome","volume":"24","author":"E Marcocci","year":"2009","journal-title":"Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association\u2014European Renal Association"},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1002\/humu.9349","article-title":"Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome","volume":"26","author":"M Nagel","year":"2005","journal-title":"Hum Mutat"},{"issue":"3","key":"ref10","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1681\/ASN.2012020148","article-title":"Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy","volume":"24","author":"J Savige","year":"2013","journal-title":"Journal of the American Society of Nephrology: JASN"},{"issue":"8","key":"ref11","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1093\/ndt\/12.8.1595","article-title":"Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)","volume":"12","author":"JA Jefferson","year":"1997","journal-title":"Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association\u2014European Renal Association"},{"issue":"11","key":"ref12","doi-asserted-by":"crossref","first-page":"3146","DOI":"10.1093\/ndt\/gfl394","article-title":"Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome","volume":"21","author":"G Wei","year":"2006","journal-title":"Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association\u2014European Renal Association"},{"issue":"10","key":"ref13","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","article-title":"X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a &quot;European Community Alport Syndrome Concerted Action&quot; study","volume":"14","author":"JP Jais","year":"2003","journal-title":"Journal of the American Society of Nephrology: JASN"},{"issue":"7","key":"ref14","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1093\/ndt\/17.7.1218","article-title":"Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling","volume":"17","author":"O Gross","year":"2002","journal-title":"Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association\u2014European Renal Association"},{"issue":"5","key":"ref15","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1681\/ASN.2009070784","article-title":"Genotype-phenotype correlation in X-linked Alport syndrome","volume":"21","author":"MR Bekheirnia","year":"2010","journal-title":"Journal of the American Society of Nephrology: JASN"},{"issue":"6","key":"ref16","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1007\/s004670050804","article-title":"Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis","volume":"14","author":"CE Kashtan","year":"2000","journal-title":"Pediatric nephrology"},{"issue":"1","key":"ref17","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","article-title":"Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome","volume":"8","author":"T Mochizuki","year":"1994","journal-title":"Nature genetics"},{"issue":"8","key":"ref18","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.2215\/CJN.01000116","article-title":"Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome","volume":"11","author":"N Kamiyoshi","year":"2016","journal-title":"Clinical journal of the American Society of Nephrology: CJASN"},{"issue":"1","key":"ref19","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1681\/ASN.V12197","article-title":"Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome","volume":"12","author":"L Heidet","year":"2001","journal-title":"Journal of the American Society of Nephrology: JASN"},{"issue":"8","key":"ref20","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nrneph.2014.95","article-title":"Next-generation sequencing for research and diagnostics in kidney disease","volume":"10","author":"KY Renkema","year":"2014","journal-title":"Nature reviews Nephrology"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000424804","article-title":"Alport syndrome\u2014clinical phenotypes, incidence, and pathology","volume":"117","author":"MC Gregory","year":"1996","journal-title":"Contrib Nephrol"},{"issue":"2","key":"ref22","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.gene.2013.10.021","article-title":"A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing","volume":"533","author":"G Liu","year":"2014","journal-title":"Gene"},{"issue":"12","key":"ref23","doi-asserted-by":"crossref","first-page":"e29500","DOI":"10.1371\/journal.pone.0029500","article-title":"Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing","volume":"6","author":"X Wei","year":"2011","journal-title":"PLoS One"},{"issue":"14","key":"ref24","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"9","key":"ref25","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome Res"},{"issue":"4","key":"ref26","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"IA Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"5","key":"ref27","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"PC Ng","year":"2001","journal-title":"Genome Res"},{"issue":"5","key":"ref28","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"issue":"2","key":"ref29","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1093\/jmcb\/mjv023","article-title":"COL4A3 mutations cause focal segmental glomerulosclerosis","volume":"7","author":"J Xie","year":"2015","journal-title":"J Mol Cell Biol"},{"issue":"12","key":"ref30","first-page":"1016","article-title":"Renal prognosis in Alport&apos;s and related syndromes: influence of the mode of inheritance","volume":"4","author":"JM Pochet","year":"1989","journal-title":"Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association\u2014European Renal Association"},{"issue":"7","key":"ref31","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1681\/ASN.2005101044","article-title":"Chronic renal failure and shortened lifespan in COL4A3+\/- mice: an animal model for thin basement membrane nephropathy","volume":"17","author":"B Beirowski","year":"2006","journal-title":"Journal of the American Society of Nephrology: JASN"},{"issue":"3","key":"ref32","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/ndt\/gfi312","article-title":"Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families","volume":"21","author":"I Longo","year":"2006","journal-title":"Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association\u2014European Renal Association"},{"issue":"3","key":"ref33","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1136\/jmedgenet-2014-102822","article-title":"Evidence of digenic inheritance in Alport syndrome","volume":"52","author":"MA Mencarelli","year":"2015","journal-title":"J Med Genet"},{"issue":"12","key":"ref34","doi-asserted-by":"crossref","first-page":"e115015","DOI":"10.1371\/journal.pone.0115015","article-title":"Frequency of COL4A3\/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing","volume":"9","author":"L Papazachariou","year":"2014","journal-title":"PLoS One"},{"issue":"6","key":"ref35","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1038\/ki.2014.305","article-title":"Rare hereditary COL4A3\/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis","volume":"86","author":"AF Malone","year":"2014","journal-title":"Kidney international"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0177685","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T21:51:55Z","timestamp":1659045115000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0177685"}},"subtitle":[],"editor":[{"given":"Klaus","family":"Brusgaard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,5,18]]},"references-count":35,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2017,5,18]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0177685","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,18]]}}}