DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cho, Sung Yoon | ko |
dc.contributor.author | Bae, Jun-Seok | ko |
dc.contributor.author | Kim, Nayoung K. D. | ko |
dc.contributor.author | Forzano, Francesca | ko |
dc.contributor.author | Girisha, Katta Mohan | ko |
dc.contributor.author | Baldo, Chiara | ko |
dc.contributor.author | Faravelli, Francesca | ko |
dc.contributor.author | Cho, Tae-Joon | ko |
dc.contributor.author | Kim, Dongsup | ko |
dc.contributor.author | Lee, Kyoung Yeul | ko |
dc.contributor.author | Ikegawa, Shiro | ko |
dc.contributor.author | Shim, Jong Sup | ko |
dc.contributor.author | Ko, Ah-Ra | ko |
dc.contributor.author | Miyake, Noriko | ko |
dc.contributor.author | Nishimura, Gen | ko |
dc.contributor.author | Superti-Furga, Andrea | ko |
dc.contributor.author | Spranger, Juergen | ko |
dc.contributor.author | Kim, Ok-Hwa | ko |
dc.contributor.author | Park, Woong-Yang | ko |
dc.contributor.author | Jin, Dong-Kyu | ko |
dc.date.accessioned | 2016-07-07T06:59:43Z | - |
dc.date.available | 2016-07-07T06:59:43Z | - |
dc.date.created | 2016-07-04 | - |
dc.date.created | 2016-07-04 | - |
dc.date.issued | 2016-06 | - |
dc.identifier.citation | AMERICAN JOURNAL OF HUMAN GENETICS, v.98, no.6, pp.1243 - 1248 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | http://hdl.handle.net/10203/210167 | - |
dc.description.abstract | Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-beta) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-beta. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define "XLR SEMD, BGN type'' as a nosologic entity | - |
dc.language | English | - |
dc.publisher | CELL PRESS | - |
dc.subject | OSTEOBLAST DIFFERENTIATION | - |
dc.subject | EXTRACELLULAR-MATRIX | - |
dc.subject | PROTEOGLYCANS BIGLYCAN | - |
dc.subject | DISEASES | - |
dc.subject | MICE | - |
dc.subject | OSTEOPOROSIS | - |
dc.subject | EXPRESSION | - |
dc.subject | PATHWAYS | - |
dc.subject | DECORIN | - |
dc.subject | MODELS | - |
dc.title | BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia | - |
dc.type | Article | - |
dc.identifier.wosid | 000377286000018 | - |
dc.identifier.scopusid | 2-s2.0-84969939836 | - |
dc.type.rims | ART | - |
dc.citation.volume | 98 | - |
dc.citation.issue | 6 | - |
dc.citation.beginningpage | 1243 | - |
dc.citation.endingpage | 1248 | - |
dc.citation.publicationname | AMERICAN JOURNAL OF HUMAN GENETICS | - |
dc.identifier.doi | 10.1016/j.ajhg.2016.04.004 | - |
dc.contributor.localauthor | Kim, Dongsup | - |
dc.contributor.nonIdAuthor | Cho, Sung Yoon | - |
dc.contributor.nonIdAuthor | Bae, Jun-Seok | - |
dc.contributor.nonIdAuthor | Kim, Nayoung K. D. | - |
dc.contributor.nonIdAuthor | Forzano, Francesca | - |
dc.contributor.nonIdAuthor | Girisha, Katta Mohan | - |
dc.contributor.nonIdAuthor | Baldo, Chiara | - |
dc.contributor.nonIdAuthor | Faravelli, Francesca | - |
dc.contributor.nonIdAuthor | Cho, Tae-Joon | - |
dc.contributor.nonIdAuthor | Ikegawa, Shiro | - |
dc.contributor.nonIdAuthor | Shim, Jong Sup | - |
dc.contributor.nonIdAuthor | Ko, Ah-Ra | - |
dc.contributor.nonIdAuthor | Miyake, Noriko | - |
dc.contributor.nonIdAuthor | Nishimura, Gen | - |
dc.contributor.nonIdAuthor | Superti-Furga, Andrea | - |
dc.contributor.nonIdAuthor | Spranger, Juergen | - |
dc.contributor.nonIdAuthor | Kim, Ok-Hwa | - |
dc.contributor.nonIdAuthor | Park, Woong-Yang | - |
dc.contributor.nonIdAuthor | Jin, Dong-Kyu | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordPlus | OSTEOBLAST DIFFERENTIATION | - |
dc.subject.keywordPlus | EXTRACELLULAR-MATRIX | - |
dc.subject.keywordPlus | PROTEOGLYCANS BIGLYCAN | - |
dc.subject.keywordPlus | DISEASES | - |
dc.subject.keywordPlus | MICE | - |
dc.subject.keywordPlus | OSTEOPOROSIS | - |
dc.subject.keywordPlus | EXPRESSION | - |
dc.subject.keywordPlus | PATHWAYS | - |
dc.subject.keywordPlus | DECORIN | - |
dc.subject.keywordPlus | MODELS | - |
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