{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:51Z","timestamp":1791121491177,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"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":["Bone"],"published-print":{"date-parts":[[2008,9]]},"DOI":"10.1016\/j.bone.2008.04.025","type":"journal-article","created":{"date-parts":[[2008,5,17]],"date-time":"2008-05-17T08:55:30Z","timestamp":1211014530000},"page":"591-595","source":"Crossref","is-referenced-by-count":8,"title":["A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family"],"prefix":"10.1016","volume":"43","author":[{"given":"Ying","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shipei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuebin","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiong","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonghong","family":"Pu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenglin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2008.04.025_bib1","doi-asserted-by":"crossref","first-page":"505","DOI":"10.2106\/00004623-196951030-00008","article-title":"Hereditary onycho-osteodysplasia (nail-patella syndrome). A report of nine kindreds.","volume":"51","author":"Beals","year":"1969","journal-title":"J Bone Joint Surg Am"},{"key":"10.1016\/j.bone.2008.04.025_bib2","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/S0002-9394(14)70866-9","article-title":"Cosegregation of open-angle glaucoma and the nail-patella syndrome","volume":"124","author":"Lichter","year":"1997","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.bone.2008.04.025_bib3","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1529-8817.2005.00191.x","article-title":"Nail patella syndrome revisited: 50\u00a0years after linkage","volume":"69","author":"McIntosh","year":"2005","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib4","first-page":"243","article-title":"Linkage analysis of the nail-patella syndrome","volume":"56","author":"Campeau","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib5","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/j.1469-1809.1955.tb01356.x","article-title":"Genetical linkage between the ABO and nail-patella loci","volume":"19","author":"Renwick","year":"1955","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib6","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF00284432","article-title":"Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.","volume":"34","author":"Ferguson-Smith","year":"1976","journal-title":"Hum Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib7","first-page":"133","article-title":"Fine mapping of the nail-patella syndrome locus at 9q34","volume":"60","author":"McIntosh","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib8","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0598-51","article-title":"Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome","volume":"19","author":"Chen","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib9","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0598-47","article-title":"Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome","volume":"19","author":"Dreyer","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib10","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/hmg\/7.7.1091","article-title":"Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome","volume":"7","author":"Vollrath","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib11","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1006\/geno.1997.5075","article-title":"Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9","volume":"46","author":"Iannotti","year":"1997","journal-title":"Genomics"},{"key":"10.1016\/j.bone.2008.04.025_bib12","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/(SICI)1521-1878(199801)20:1<58::AID-BIES9>3.0.CO;2-O","article-title":"DeLIMiting development","volume":"20","author":"Curtiss","year":"1998","journal-title":"BioEssays"},{"key":"10.1016\/j.bone.2008.04.025_bib13","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1101\/gad.6.11.2165","article-title":"Synergistic activation of the insulin gene by a LIM-homeo domain protein and a basic helix\u2013loop\u2013helix protein: building a functional insulin minienhancer complex","volume":"6","author":"German","year":"1992","journal-title":"Genes Dev"},{"key":"10.1016\/j.bone.2008.04.025_bib14","doi-asserted-by":"crossref","first-page":"3488","DOI":"10.1128\/MCB.17.7.3488","article-title":"Transcriptional synergy between LIM-homeodomain proteins and basic helix\u2013loop\u2013helix proteins: the LIM2 domain determines specificity","volume":"17","author":"Johnson","year":"1997","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.bone.2008.04.025_bib15","doi-asserted-by":"crossref","first-page":"3693","DOI":"10.1242\/dev.01250","article-title":"Lmx1b controls the differentiation and migration of the superficial dorsal horn neurons of the spinal cord","volume":"131","author":"Ding","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.bone.2008.04.025_bib16","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1038\/nn1104","article-title":"Lmx1b is essential for the development of serotonergic neurons","volume":"6","author":"Ding","year":"2003","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.bone.2008.04.025_bib17","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1172\/JCI0213961","article-title":"The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes","volume":"109","author":"Rohr","year":"2002","journal-title":"J Clin Invest"},{"key":"10.1016\/j.bone.2008.04.025_bib18","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/378716a0","article-title":"Dorsal cell fate specified by chick Lmx1 during vertebrate limb development","volume":"378","author":"Vogel","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.bone.2008.04.025_bib19","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ygeno.2004.06.002","article-title":"The human LMX1B gene: transcription unit, promoter, and pathogenic mutations","volume":"84","author":"Dunston","year":"2004","journal-title":"Genomics"},{"key":"10.1016\/j.bone.2008.04.025_bib20","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/humu.1217","article-title":"Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients","volume":"18","author":"Hamlington","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1016\/j.bone.2008.04.025_bib21","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/84765","article-title":"A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy","volume":"27","author":"Zhang","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib22","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1093\/hmg\/ddi023","article-title":"Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration","volume":"14","author":"Yang","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib23","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/0168-9525(94)90034-5","article-title":"The LIM domain: a new structural motif found in zinc-finger-like proteins","volume":"10","author":"Sanchez-Garcia","year":"1994","journal-title":"Trends Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib24","doi-asserted-by":"crossref","first-page":"11108","DOI":"10.1016\/S0021-9258(19)78098-3","article-title":"Mutational analysis of the metal sites in an LIM domain","volume":"269","author":"Michelsen","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1016\/j.bone.2008.04.025_bib25","doi-asserted-by":"crossref","first-page":"5269","DOI":"10.1242\/dev.129.22.5269","article-title":"Role of Lmx1b and Wnt1 in mesencephalon and metencephalon development","volume":"129","author":"Matsunaga","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.bone.2008.04.025_bib26","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0002-9440(10)63638-3","article-title":"In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys","volume":"163","author":"Heidet","year":"2003","journal-title":"Am J Pathol"},{"key":"10.1016\/j.bone.2008.04.025_bib27","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1093\/hmg\/9.7.1067","article-title":"LMX1B transactivation and expression in nail-patella syndrome","volume":"9","author":"Dreyer","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib28","doi-asserted-by":"crossref","first-page":"E25","DOI":"10.1136\/jmg.37.9.e25","article-title":"Achondroplasia and nail-patella syndrome: the compound phenotype","volume":"37","author":"Wright","year":"2000","journal-title":"J Med Genet"},{"key":"10.1016\/j.bone.2008.04.025_bib29","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/sj.ejhg.5201405","article-title":"Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in nail-patella syndrome","volume":"13","author":"Marini","year":"2005","journal-title":"Eur J Hum Genet"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632820800224X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632820800224X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,9,10]],"date-time":"2021-09-10T21:38:12Z","timestamp":1631309892000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S875632820800224X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["S875632820800224X"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2008.04.025","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2008,9]]}}}