{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T21:33:04Z","timestamp":1773696784479,"version":"3.50.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC015052"],"award-info":[{"award-number":["R01DC015052"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R03DC013866"],"award-info":[{"award-number":["R03DC013866"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["17ZR1448600"],"award-info":[{"award-number":["17ZR1448600"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["18410712400"],"award-info":[{"award-number":["18410712400"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1016\/j.jgg.2019.09.003","type":"journal-article","created":{"date-parts":[[2019,9,27]],"date-time":"2019-09-27T21:40:24Z","timestamp":1569620424000},"page":"445-449","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis"],"prefix":"10.1016","volume":"46","author":[{"given":"Yilai","family":"Shu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoting","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chayada","family":"Tangshewinsirikul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weili","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasheng","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiqiang","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huawei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8362-7535","authenticated-orcid":false,"given":"Jun","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0988-9534","authenticated-orcid":false,"given":"Bing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiguo","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2019.09.003_bib1","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1002\/ajmg.a.37626","article-title":"Further delineation of facioaudiosymphalangism syndrome: description of a family with a novel NOG mutation and without hearing loss","volume":"170","author":"Bayat","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.jgg.2019.09.003_bib2","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1097\/00129492-200303000-00014","article-title":"Characterization of a stapes ankylosis family with a NOG mutation","volume":"24","author":"Brown","year":"2003","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.jgg.2019.09.003_bib3","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1086\/342067","article-title":"Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin","volume":"71","author":"Brown","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2019.09.003_bib4","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1126\/science.280.5368.1455","article-title":"Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton","volume":"280","author":"Brunet","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.jgg.2019.09.003_bib5","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1097\/01.mao.0000185074.58199.6b","article-title":"Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome","volume":"26","author":"Declau","year":"2005","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.jgg.2019.09.003_bib6","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/00125817-200109000-00004","article-title":"Identical mutations in NOG can cause either tarsal\/carpal coalition syndrome or proximal symphalangism","volume":"3","author":"Dixon","year":"2001","journal-title":"Genet. Med."},{"key":"10.1016\/j.jgg.2019.09.003_bib7","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1038\/6821","article-title":"Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis","volume":"21","author":"Gong","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jgg.2019.09.003_bib8","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1093\/hmg\/ddm356","article-title":"Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans","volume":"17","author":"Hwang","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2019.09.003_bib9","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1086\/519697","article-title":"A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN","volume":"81","author":"Lehmann","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2019.09.003_bib10","doi-asserted-by":"crossref","first-page":"11353","DOI":"10.1073\/pnas.201367598","article-title":"Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding","volume":"98","author":"Marcelino","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jgg.2019.09.003_bib11","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1101\/gad.12.10.1438","article-title":"Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite","volume":"12","author":"McMahon","year":"1998","journal-title":"Genes Dev."},{"key":"10.1016\/j.jgg.2019.09.003_bib12","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1177\/0003489415582257","article-title":"A novel missense mutation of NOG interferes with the dimerization of NOG and causes proximal symphalangism syndrome in a Chinese family","volume":"124","author":"Pang","year":"2015","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"10.1016\/j.jgg.2019.09.003_bib13","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1002\/humu.21515","article-title":"A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD)","volume":"32","author":"Potti","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2019.09.003_bib14","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":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.jgg.2019.09.003_bib15","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/361547a0","article-title":"Secreted noggin protein mimics the Spemann organizer in dorsalizing Xenopus mesoderm","volume":"361","author":"Smith","year":"1993","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2019.09.003_bib16","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/j.1399-0004.2011.01831.x","article-title":"Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis","volume":"82","author":"Usami","year":"2012","journal-title":"Clin. Genet."},{"key":"10.1016\/j.jgg.2019.09.003_bib17","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1056\/NEJM196010272631706","article-title":"Symphalangism, strabismus and hearing loss in mother and daughter","volume":"263","author":"Vesell","year":"1960","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jgg.2019.09.003_bib18","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1097\/MAO.0000000000000923","article-title":"Congenital stapes ankylosis in children: surgical findings and results in 35 cases","volume":"37","author":"Vincent","year":"2016","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.jgg.2019.09.003_bib19","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.ajhg.2009.06.007","article-title":"Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene","volume":"85","author":"Wu","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2019.09.003_bib20","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1007\/s10038-008-0253-7","article-title":"Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism","volume":"53","author":"Yang","year":"2008","journal-title":"J. Hum. Genet."}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852719301523?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852719301523?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T11:31:23Z","timestamp":1761651083000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852719301523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S1673852719301523"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2019.09.003","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2019.09.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.","name":"copyright","label":"Copyright"}]}}