{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T22:42:16Z","timestamp":1707777736727},"reference-count":21,"publisher":"Spandidos Publications","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["biom rep"],"DOI":"10.3892\/br.2020.1311","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T08:07:46Z","timestamp":1591690066000},"source":"Crossref","is-referenced-by-count":1,"title":["Identification of four novel mutations in the"],"prefix":"10.3892","author":[{"given":"Xuechao","family":"Zhao","sequence":"first","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, Henan 450052, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueliang","family":"Shang","sequence":"additional","affiliation":[{"name":"School of Psychology, North China University of Science and Technology, Tang'shan, Hebei 063210, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Chen","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, Henan 450052, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Liu","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, Henan 450052, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conghui","family":"Wang","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, Henan 450052, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganye","family":"Zhao","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, Henan 450052, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junjun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Research Institute of Nephrology, Zhengzhou University, Zhengzhou, Henan 450052, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, Henan 450052, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2020,6,9]]},"reference":[{"key":"key20200713113713_b1-br-0-0-01311","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/ncpneph0671","article-title":"Inherited diseases of the glomerular basement membrane","volume":"4","author":"Gubler","year":"2008","journal-title":"Nat Clin Prac Nephrol"},{"key":"key20200713113713_b2-br-0-0-01311","doi-asserted-by":"publisher","first-page":"2543","DOI":"10.1056\/NEJMra022296","article-title":"Alport's syndrome, Goodpasture's syndrome, and type IV collagen","volume":"348","author":"Hudson","year":"2003","journal-title":"N Engl J Med"},{"key":"key20200713113713_b3-br-0-0-01311","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary familial congenital haemorrhagic nephritis","volume":"1","author":"Alport","year":"1927","journal-title":"Br Med J"},{"key":"key20200713113713_b4-br-0-0-01311","doi-asserted-by":"publisher","first-page":"193","DOI":"10.3345\/kjp.2018.06772","article-title":"De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea","volume":"62","author":"Han","year":"2019","journal-title":"Korean J Pediatr"},{"key":"key20200713113713_b5-br-0-0-01311","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1136\/archdischild-2013-304340","article-title":"What is next generation sequencing?","volume":"98","author":"Behjati","year":"2013","journal-title":"Arch Dis Child Educ Pract Ed"},{"key":"key20200713113713_b6-br-0-0-01311","first-page":"3146","article-title":"Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome. Nephrology, dialysis, transplantation: Official publication of the European Dialysis and Transplant Association","volume":"21","author":"Wei","year":"2006","journal-title":"European Renal Association"},{"key":"key20200713113713_b7-br-0-0-01311","doi-asserted-by":"publisher","first-page":"1224","DOI":"10.1126\/science.2349482","article-title":"Identification of mutations in the COL4A5 collagen gene in Alport syndrome","volume":"248","author":"Barker","year":"1990","journal-title":"Science"},{"key":"key20200713113713_b8-br-0-0-01311","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1007\/s004670050804","article-title":"Alport syndromes: Phenotypic heterogeneity of progressive hereditary nephritis","volume":"14","author":"Kashtan","year":"2000","journal-title":"Pediatr Nephrol"},{"key":"key20200713113713_b9-br-0-0-01311","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1016\/s0046-8177(98)90123-x","article-title":"X-linked Alport syndrome in females","volume":"29","author":"Meleg-Smith","year":"1998","journal-title":"Hum Pathol"},{"key":"key20200713113713_b10-br-0-0-01311","doi-asserted-by":"publisher","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 \u2018European community Alport syndrome concerted action\u2019 study","volume":"14","author":"Jais","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"key20200713113713_b11-br-0-0-01311","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1111\/j.1399-0004.2012.01849.x","article-title":"Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5","volume":"82","author":"Tsiakkis","year":"2012","journal-title":"Clin Genet"},{"issue":"e653","key":"key20200713113713_b12-br-0-0-01311","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.653","article-title":"Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport syndrome using next generation sequence technique","volume":"7","author":"Zhao","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"key20200713113713_b13-br-0-0-01311","doi-asserted-by":"publisher","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":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"key20200713113713_b14-br-0-0-01311","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1016\/j.bbrc.2004.02.168","article-title":"Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome","volume":"316","author":"Wang","year":"2004","journal-title":"Biochem Biophys Res Commun"},{"key":"key20200713113713_b15-br-0-0-01311","doi-asserted-by":"publisher","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":"Hudson","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"key20200713113713_b16-br-0-0-01311"},{"key":"key20200713113713_b17-br-0-0-01311","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1038\/sj.ki.5002221","article-title":"Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria","volume":"71","author":"Slajpah","year":"2007","journal-title":"Kidney Int"},{"key":"key20200713113713_b18-br-0-0-01311","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1111\/j.1399-0004.2011.01647.x","article-title":"X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5","volume":"81","author":"Demosthenous","year":"2012","journal-title":"Clin Genet"},{"issue":"186048","key":"key20200713113713_b19-br-0-0-01311","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/186048","article-title":"A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing","volume":"2014","author":"Xiu","year":"2014","journal-title":"Biomed Res Int"},{"key":"key20200713113713_b20-br-0-0-01311","doi-asserted-by":"publisher","first-page":"2740","DOI":"10.1681\/ASN.2013080912","article-title":"Improving mutation screening in familial hematuric nephropathies through next generation sequencing","volume":"25","author":"Morini\u00e8re","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"key20200713113713_b21-br-0-0-01311","first-page":"1291","article-title":"Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detection by denaturing gradient gel electrophoresis of a PCR product","volume":"50","author":"Zhou","year":"1992","journal-title":"Am J Hum Genet"}],"container-title":["Biomedical Reports"],"original-title":[],"deposited":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T10:37:16Z","timestamp":1594636636000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/br.2020.1311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,9]]},"references-count":21,"URL":"https:\/\/doi.org\/10.3892\/br.2020.1311","relation":{},"ISSN":["2049-9434","2049-9442"],"issn-type":[{"value":"2049-9434","type":"print"},{"value":"2049-9442","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,9]]}}}