A novel missense mutation ofTNNI2in a Chinese family cause distal arthrogryposis type 1-Reference-Cited by-同舟云学术

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A novel missense mutation ofTNNI2in a Chinese family cause distal arthrogryposis type 1

Published:2015-09-16 Issue:1 Volume:170 Page:135-141
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wang Bo¹,Zheng Zhaojing¹,Wang Zhigang²,Zhang Xiaoqing¹,Yang Haiou¹,Cai Haiqing²,Fu Qihua¹

Affiliation:

1. Department of Laboratory Medicine; Shanghai Children's Medical Center; Shanghai Jiao Tong University School of Medicine; Shanghai P.R. China

2. Department of Pediatric Orthopedic; Shanghai Children's Medical Center; Shanghai Jiao Tong University School of Medicine; Shanghai P.R. China

Funder

Pudong New Area of Science and Technology Development

Shanghai Jiao Tong University School of Medicine Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. A revised and extended classification of the distal arthrogryposes;Bamshad;Am J Med Genet,1996

2. Arthrogryposis: A review and update;Bamshad;J Bone Joint Surg Am,2009

3. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B;Beck;Am J Med Genet A,2013

4. Calcium- and magnesium-dependent interactions between the C-terminus of troponin I and the N-terminal, regulatory domain of troponin C;Digel;Arch Biochem Biophys,2001

5. SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling;Guex;Electrophoresis,1997

Cited by 7 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. Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism;Journal of Human Genetics;2023-01-12

2. A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family;Molecular Genetics & Genomic Medicine;2022-09-07

3. The distal arthrogryposis‐linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3;Journal of Clinical Laboratory Analysis;2021-11-11

4. Distal Arthrogryposis and Lethal Congenital Contracture Syndrome – An Overview;Frontiers in Physiology;2020-06-25

5. Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A;Experimental and Therapeutic Medicine;2018-07-24

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