Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant-Reference-Cited by-同舟云学术

Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant

Published:2011-08-10 Issue:9 Volume:155 Page:2269-2273
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takagi Masaki,Hori Naoaki,Chinen Yasutsugu,Kurosawa Kenji,Tanaka Yukichi,Oku Kikuko,Sakata Hitomi,Fukuzawa Ryuji,Nishimura Gen,Spranger Jürgen,Hasegawa Tomonobu

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34152/fullpdf

Reference11 articles.

1. Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta;Chessler;J Biol Chem,1993

2. Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly;Lamandé;J Biol Chem,1995

3. Carboxyl-terminal propeptide of type I collagen (c-propeptide) modulates the action of TGF-beta on MC3T3-E1 osteoblastic cells;Mizuno;FEBS Lett,2000a

4. The effect of carboxyl-terminal propeptide of type I collagen (c-propeptide) on collagen synthesis of preosteoblasts and osteoblasts;Mizuno;Calcif Tissue Int,2000b

5. Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta;Pace;J Med Genet,2001

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5. Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1;Human Genome Variation;2014-11-20