Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.-Reference-Cited by-同舟云学术

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

Published:1994-05 Issue:18 Volume:269 Page:13663-13669
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Freisinger P.,Ala-Kokko L.,LeGuellec D.,Franc S.,Bouvier R.,Ritvaniemi P.,Prockop D.J.,Bonaventure J.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference38 articles.

1. Independent expression of fibril-forming collagens I, II, and III in chondrocytes of human osteoarthritic cartilage.

2. Identification of a cartilage-specific promoter within intron 2 of the chick alpha 2(I) collagen gene.

3. An amino acid substitution (Gly853–>Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.

4. A new lethal brittle bone syndrome with increased amount of type V collagen in a patient

5. Proteolytic enzymes as probes for the triple-helical conformation of procollagen

Cited by 22 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. Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids;International Journal of Molecular Sciences;2024-01-13

2. Modeling human skeletal development using human pluripotent stem cells;Proceedings of the National Academy of Sciences;2023-05

3. Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology;Connective Tissue Research;2022-02-26

4. RETRACTED ARTICLE: Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita;European Spine Journal;2015-05-13

5. The molecular chaperone Hsp47 is essential for cartilage and endochondral bone formation;Journal of Cell Science;2012-03-01