Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes-Reference-Cited by-同舟云学术

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Published:2011-01-31 Issue:8 Volume:20 Page:1595-1609
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Pyott Shawna M.,Schwarze Ulrike,Christiansen Helena E.,Pepin Melanie G.,Leistritz Dru F.,Dineen Richard,Harris Catharine,Burton Barbara K.,Angle Brad,Kim Katherine,Sussman Michael D.,Weis MaryAnn,Eyre David R.,Russell David W.,McCarthy Kevin J.,Steiner Robert D.,Byers Peter H.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/20/8/1595/17255660/ddr037.pdf

Reference41 articles.

1. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006

2. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N. Engl. J. Med.,2006

3. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta;Cabral;Nat. Genet.,2007

4. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta;Baldridge;Hum. Mutat.,2008

5. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation;Willaert;J. Med. Genet.,2009

Cited by 112 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Update on the Genetics of Osteogenesis Imperfecta;Calcified Tissue International;2024-08-11

2. Personal essay of a rookie’s journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932–2023: in memoriam;Journal of Neurogenetics;2024-06-24

3. Proteostatic Remodeling of Small Heat Shock Chaperones─Crystallins by Ran-Binding Protein 2─and the Peptidyl-Prolyl cis–trans Isomerase and Chaperone Activities of Its Cyclophilin Domain;ACS Chemical Neuroscience;2024-04-24

4. Role of the mitochondrial protein cyclophilin D in skin wound healing and collagen secretion;JCI Insight;2024-04-02

5. Proteostatic remodeling of small heat shock chaperones - crystallins by Ran-binding protein 2 and the peptidyl-prolylcis-transisomerase and chaperone activities of its cyclophilin domain;2024-01-30