{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:37:44Z","timestamp":1777448264940,"version":"3.51.4"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"National High-tech R&D Program","award":["2015AA020502"],"award-info":[{"award-number":["2015AA020502"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31371187"],"award-info":[{"award-number":["31371187"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31501152"],"award-info":[{"award-number":["31501152"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31401218"],"award-info":[{"award-number":["31401218"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Department of Science and Technology of Henan Province","award":["142300410071"],"award-info":[{"award-number":["142300410071"]}]},{"name":"Teachers Research Funding of Central South University","award":["2014JSJJ035"],"award-info":[{"award-number":["2014JSJJ035"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1016\/j.gene.2017.04.017","type":"journal-article","created":{"date-parts":[[2017,4,11]],"date-time":"2017-04-11T13:02:38Z","timestamp":1491915758000},"page":"1-4","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"special_numbering":"C","title":["A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient"],"prefix":"10.1016","volume":"621","author":[{"given":"Hunjin","family":"Luo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruizhi","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaguang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan-Na","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Tao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Da","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2017.04.017_bb0005","doi-asserted-by":"crossref","first-page":"F245","DOI":"10.1152\/ajprenal.00186.2011","article-title":"Role of fibroblast growth factor receptor signaling in kidney development","volume":"301","author":"Bates","year":"2011","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"10.1016\/j.gene.2017.04.017_bb0010","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/nrendo.2015.112","article-title":"Expert consensus document: European consensus statement on congenital hypogonadotropic hypogonadism\u2014pathogenesis, diagnosis and treatment","volume":"11","author":"Boehm","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.gene.2017.04.017_bb0015","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1093\/emboj\/17.6.1642","article-title":"Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning","volume":"17","author":"Celli","year":"1998","journal-title":"EMBO J."},{"key":"10.1016\/j.gene.2017.04.017_bb0020","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1097\/SCS.0b013e3182646454","article-title":"FGFR1 and FGFR2 mutations in Pfeiffer syndrome","volume":"24","author":"Chokdeemboon","year":"2013","journal-title":"The Journal of Craniofacial Surgery"},{"key":"10.1016\/j.gene.2017.04.017_bb0025","doi-asserted-by":"crossref","first-page":"4997","DOI":"10.1210\/en.2007-1634","article-title":"Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons","volume":"149","author":"Chung","year":"2008","journal-title":"Endocrinology"},{"key":"10.1016\/j.gene.2017.04.017_bb0030","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.mcp.2010.10.003","article-title":"Genomic DNA extraction from whole blood stored from 15- to 30-years at \u221220 degrees C by rapid phenol-chloroform protocol: a useful tool for genetic epidemiology studies","volume":"25","author":"Di Pietro","year":"2011","journal-title":"Mol. Cell. Probes"},{"key":"10.1016\/j.gene.2017.04.017_bb0035","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/ejhg.2008.206","article-title":"Kallmann syndrome","volume":"17","author":"Dode","year":"2009","journal-title":"European Journal of Human Genetics: EJHG"},{"key":"10.1016\/j.gene.2017.04.017_bb0040","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/ng1122","article-title":"Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome","volume":"33","author":"Dode","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2017.04.017_bb0045","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1242\/dev.00334","article-title":"FGF signaling through FGFR1 is required for olfactory bulb morphogenesis","volume":"130","author":"Hebert","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.gene.2017.04.017_bb0050","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1093\/hmg\/ddw064","article-title":"Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome","volume":"25","author":"Hong","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2017.04.017_bb0055","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.tem.2010.01.004","article-title":"Novel insights in FGFR1 regulation: lessons from Kallmann syndrome","volume":"21","author":"Hu","year":"2010","journal-title":"Trends in Endocrinology and Metabolism: TEM"},{"key":"10.1016\/j.gene.2017.04.017_bb0060","doi-asserted-by":"crossref","first-page":"456","DOI":"10.3803\/EnM.2015.30.4.456","article-title":"Congenital hypogonadotropic hypogonadism and Kallmann syndrome: past, present, and future","volume":"30","author":"Kim","year":"2015","journal-title":"Endocrinol. Metab."},{"key":"10.1016\/j.gene.2017.04.017_bb0065","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.gene.2017.04.017_bb0070","doi-asserted-by":"crossref","first-page":"11","DOI":"10.3389\/fendo.2016.00011","article-title":"Disruption of the suprachiasmatic nucleus in fibroblast growth factor signaling-deficient mice","volume":"7","author":"Miller","year":"2016","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.gene.2017.04.017_bb0075","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.cytogfr.2005.01.008","article-title":"Structural basis for fibroblast growth factor receptor activation","volume":"16","author":"Mohammadi","year":"2005","journal-title":"Cytokine Growth Factor Rev."},{"key":"10.1016\/j.gene.2017.04.017_bb0080","doi-asserted-by":"crossref","first-page":"4512","DOI":"10.1073\/pnas.0607956104","article-title":"Impaired FGF signaling contributes to cleft lip and palate","volume":"104","author":"Riley","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2017.04.017_bb0085","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0896-6273(00)80264-0","article-title":"Expression of a dominant negative FGF receptor inhibits axonal growth and FGF receptor phosphorylation stimulated by CAMs","volume":"18","author":"Saffell","year":"1997","journal-title":"Neuron"},{"key":"10.1016\/j.gene.2017.04.017_bb0090","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1210\/me.2004-0330","article-title":"Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population","volume":"19","author":"Tsai","year":"2005","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.gene.2017.04.017_bb0095","first-page":"223","article-title":"The complex genetic basis of congenital hypogonadotropic hypogonadism","volume":"41","author":"Vezzoli","year":"2016","journal-title":"Minerva Endocrinol."},{"key":"10.1016\/j.gene.2017.04.017_bb0100","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/gim.2014.166","article-title":"Congenital hypogonadotropic hypogonadism with split hand\/foot malformation: a clinical entity with a high frequency of FGFR1 mutations","volume":"17","author":"Villanueva","year":"2015","journal-title":"Genetics in Medicine: Official Journal of the American College of Medical Genetics"},{"key":"10.1016\/j.gene.2017.04.017_bb0105","doi-asserted-by":"crossref","first-page":"3032","DOI":"10.1101\/gad.8.24.3032","article-title":"fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation","volume":"8","author":"Yamaguchi","year":"1994","journal-title":"Genes Dev."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917302597?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917302597?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,20]],"date-time":"2019-09-20T19:08:04Z","timestamp":1569006484000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111917302597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":21,"alternative-id":["S0378111917302597"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2017.04.017","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2017.04.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}