Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cho, Sung Yoon | - |
dc.contributor.author | Asharani, P. V. | - |
dc.contributor.author | Kim, Ok-Hwa | - |
dc.contributor.author | Iida, Aritoshi | - |
dc.contributor.author | Miyake, Noriko | - |
dc.contributor.author | Matsumoto, Naomichi | - |
dc.contributor.author | Nishimura, Gen | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Hong, Geehay | - |
dc.contributor.author | Kim, Su Jin | - |
dc.contributor.author | Sohn, Young Bae | - |
dc.contributor.author | Park, Sung Won | - |
dc.contributor.author | Lee, Jieun | - |
dc.contributor.author | Kwun, Younghee | - |
dc.contributor.author | Carney, Thomas J. | - |
dc.contributor.author | Huh, Rimm | - |
dc.contributor.author | Ikegawa, Shiro | - |
dc.contributor.author | Jin, Dong-Kyu | - |
dc.date.available | 2020-02-28T10:43:16Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2015-02 | - |
dc.identifier.issn | 1059-7794 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/10831 | - |
dc.description.abstract | Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis with autosomal-dominant inheritance, but many autosomal-recessive genes have been reported. We applied whole-exome sequencing to identify mutations in a Korean OI patient who had an umbilical hernia, frequent fractures, a markedly short stature, delayed motor development, scoliosis, and dislocation of the radial head, with a bowed radius and ulna. We identified two novel variants in the BMP1 gene: c.808A>G and c.1297G>T. The former variant caused a missense change p.(Met270Val) and the latter variant caused the skipping of exon 10. The hypofunctional nature of the two variants was demonstrated in a zebrafish assay. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | WILEY | - |
dc.relation.isPartOf | HUMAN MUTATION | - |
dc.subject | MUTATION | - |
dc.subject | PROTEIN | - |
dc.subject | DEFICIENCY | - |
dc.subject | PATIENT | - |
dc.subject | 5&apos | - |
dc.subject | -UTR | - |
dc.title | Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000349397300006 | - |
dc.identifier.doi | 10.1002/humu.22731 | - |
dc.identifier.bibliographicCitation | HUMAN MUTATION, v.36, no.2, pp.191 - 195 | - |
dc.identifier.scopusid | 2-s2.0-84922014000 | - |
dc.citation.endPage | 195 | - |
dc.citation.startPage | 191 | - |
dc.citation.title | HUMAN MUTATION | - |
dc.citation.volume | 36 | - |
dc.citation.number | 2 | - |
dc.contributor.affiliatedAuthor | Kim, Ok-Hwa | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | osteogenesis imperfecta | - |
dc.subject.keywordAuthor | BMP1 | - |
dc.subject.keywordAuthor | zebrafish | - |
dc.subject.keywordAuthor | whole-exome sequencing | - |
dc.subject.keywordAuthor | mutation | - |
dc.subject.keywordPlus | MUTATION | - |
dc.subject.keywordPlus | PROTEIN | - |
dc.subject.keywordPlus | DEFICIENCY | - |
dc.subject.keywordPlus | PATIENT | - |
dc.subject.keywordPlus | 5&apos | - |
dc.subject.keywordPlus | -UTR | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.