Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss-Reference-Cited by-同舟云学术

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Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss

Published:2022-02-18 Issue:7 Volume:101 Page:e28828
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Tsuchida Yumi,Nagafuchi Yasuo,Uehara Tomoko,Suzuki Hisato,Yamada Mamiko,Kono Masanori,Hatano Hiroaki,Shoda Hirofumi,Fujio Keishi,Kosaki Kenjiro

Funder

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference20 articles.

1. Minor fibrillar collagens, variable regions alternative splicing, intrinsic disorder, and tyrosine sulfation;Fang;Protein Cell,2012

2. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53;Chakchouk;Mol Genet Genomics,2015

3. Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED);Li;Dev Dyn,2001

4. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13);McGuirt;Nat Genet,1999

5. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2;Tompson;Am J Med Genet A,2012

Cited by 1 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. Type XI collagen;Biochemistry of Collagens, Laminins and Elastin;2024

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