{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:22:20Z","timestamp":1760782940810},"reference-count":28,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2007,4]]},"DOI":"10.1016\/j.bbrc.2007.01.129","type":"journal-article","created":{"date-parts":[[2007,2,5]],"date-time":"2007-02-05T16:02:37Z","timestamp":1170691357000},"page":"312-317","source":"Crossref","is-referenced-by-count":35,"title":["A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family"],"prefix":"10.1016","volume":"355","author":[{"given":"Zhi-Qiang","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shao-Hua","family":"Tian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao-Zhou","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping-Tong","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen-Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Run-Zhe","family":"Shu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Landian","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangyin","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2007.01.129_bib1","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1159\/000472392","article-title":"Syndactylies and polydactylies: embryological overview and suggested classification","volume":"1","author":"Winter","year":"1993","journal-title":"Eur. J. Hum. Genet."},{"issue":"i\u2013xviii","key":"10.1016\/j.bbrc.2007.01.129_bib2","first-page":"1","article-title":"The genetics of hand malformations","volume":"14","author":"Temtamy","year":"1978","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.bbrc.2007.01.129_bib3","first-page":"175","article-title":"The results of surgery for polydactyly of the thumb","volume":"64","author":"Wassel","year":"1969","journal-title":"Clin. Orthop. Relat. Res."},{"key":"10.1016\/j.bbrc.2007.01.129_bib4","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0363-5023(88)80019-4","article-title":"A family with complex bilateral polysyndacty","volume":"13","author":"Nicolai","year":"1988","journal-title":"J. Hand Surg. [Am]."},{"key":"10.1016\/j.bbrc.2007.01.129_bib5","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1038\/ng0394-282","article-title":"A complex bilateral polysyndactyly disease locus maps to chromosome 7q36","volume":"6","author":"Tsukurov","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib6","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<209::AID-AJMG17>3.0.CO;2-X","article-title":"An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36","volume":"66","author":"Radhakrishna","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib7","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<399::AID-AJMG6>3.0.CO;2-A","article-title":"Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36","volume":"87","author":"Balci","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib8","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/ng0394-287","article-title":"The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q","volume":"6","author":"Heutink","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib9","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/ajmg.1320580208","article-title":"Linkage of preaxial polydactyly type 2 to 7q36","volume":"58","author":"Hing","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib10","first-page":"32","article-title":"Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9cM region on chromosome 7q36","volume":"36","author":"Zguricas","year":"1999","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib11","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1006\/geno.1999.5796","article-title":"A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36","volume":"57","author":"Heus","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.bbrc.2007.01.129_bib12","doi-asserted-by":"crossref","first-page":"7548","DOI":"10.1073\/pnas.112212199","article-title":"Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly","volume":"99","author":"Lettice","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.bbrc.2007.01.129_bib13","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0960-9822(99)80022-0","article-title":"Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch","volume":"9","author":"Sharpe","year":"1999","journal-title":"Curr. Biol."},{"key":"10.1016\/j.bbrc.2007.01.129_bib14","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1093\/hmg\/ddg180","article-title":"A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly","volume":"12","author":"Lettice","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib15","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1006\/geno.2000.6285","article-title":"Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21","volume":"68","author":"Xiao","year":"2000","journal-title":"Genomics"},{"key":"10.1016\/j.bbrc.2007.01.129_bib16","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib17","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1086\/316955","article-title":"Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene","volume":"68","author":"Ianakiev","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2007.01.129_bib18","doi-asserted-by":"crossref","first-page":"3339","DOI":"10.1242\/dev.120.11.3339","article-title":"Products, genetic linkage and limb patterning activity of a murine hedgehog gene","volume":"120","author":"Chang","year":"1994","journal-title":"Development"},{"key":"10.1016\/j.bbrc.2007.01.129_bib19","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1006\/geno.2000.6225","article-title":"A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice","volume":"67","author":"Clark","year":"2000","journal-title":"Genomics"},{"key":"10.1016\/j.bbrc.2007.01.129_bib20","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1016\/0092-8674(93)90626-2","article-title":"Sonic hedgehog mediates the polarizing activity of the ZPA","volume":"75","author":"Riddle","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.bbrc.2007.01.129_bib21","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0092-8674(00)80678-9","article-title":"Hedgehog-regulated processing of Gli3 produces an anterior\/posterior repressor gradient in the developing vertebrate limb","volume":"100","author":"Wang","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.bbrc.2007.01.129_bib22","doi-asserted-by":"crossref","first-page":"4729","DOI":"10.1242\/dev.126.21.4729","article-title":"The dominant hemimelia mutation uncouples epithelial-mesenchymal interactions and disrupts anterior mesenchyme formation in mouse hindlimbs","volume":"126","author":"Lettice","year":"1999","journal-title":"Development"},{"key":"10.1016\/j.bbrc.2007.01.129_bib23","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1101\/gad.9.13.1645","article-title":"A duplicated zone of polarizing activity in polydactylous mouse mutants","volume":"9","author":"Masuya","year":"1995","journal-title":"Genes. Dev."},{"key":"10.1016\/j.bbrc.2007.01.129_bib24","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1006\/dbio.1996.8457","article-title":"Multigenic control of the localization of the zone of polarizing activity in limb morphogenesis in the mouse","volume":"182","author":"Masuya","year":"1997","journal-title":"Dev. Biol."},{"key":"10.1016\/j.bbrc.2007.01.129_bib25","doi-asserted-by":"crossref","first-page":"2711","DOI":"10.1242\/dev.125.14.2711","article-title":"Mutations in mouse Aristaless-like4 cause Strong\u2019s luxoid polydactyly","volume":"125","author":"Qu","year":"1998","journal-title":"Development"},{"key":"10.1016\/j.bbrc.2007.01.129_bib26","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0925-4773(97)00656-4","article-title":"Evidence for genetic control of Sonic hedgehog by Gli3 in mouse limb development","volume":"62","author":"Buscher","year":"1997","journal-title":"Mech. Dev."},{"key":"10.1016\/j.bbrc.2007.01.129_bib27","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00335-033-2317-5","article-title":"Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)","volume":"15","author":"Sagai","year":"2004","journal-title":"Mamm. Genome."},{"key":"10.1016\/j.bbrc.2007.01.129_bib28","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/dvdy.20254","article-title":"Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly","volume":"232","author":"Maas","year":"2005","journal-title":"Dev. Dyn."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X07001726?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X07001726?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,8]],"date-time":"2021-08-08T11:12:55Z","timestamp":1628421175000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X07001726"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,4]]}},"alternative-id":["S0006291X07001726"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2007.01.129","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2007,4]]}}}