Type I procollagen: The gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue-Reference-Cited by-同舟云学术

Type I procollagen: The gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue

Published:1989-09 Issue:1 Volume:34 Page:60-67
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prockop Darwin J.,Constantinou Constantinos D.,Dombrowski Kenneth E.,Hojima Yoshio,Kadler Karl E.,Kuivaniemi Helena,Tromp Gerard,Vogel Bruce E.

Publisher

Wiley

Subject

Genetics (clinical)

Reference68 articles.

1. Homozygous osteogenesis imperfecta unlinked to collagen I genes

2. A single base mutation that converts glycine 907 of the α2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta

3. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

4. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

Cited by 88 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. The impact of foot orthoses on gait in children with Osteogenesis Imperfecta type I, III and IV – a cross-sectional study;BMC Musculoskeletal Disorders;2024-07-18

2. Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta;Bone;2022-09

3. Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm;Annual Review of Genomics and Human Genetics;2022-08-31

4. Molecular Basis of Pathogenic Variants in the Fibrillar Collagens;Genes;2022-07-04

5. Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing;Frontiers in Pediatrics;2022-04-08