A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency-Reference-Cited by-同舟云学术

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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency

Published:2016-08-03 Issue:12 Volume:24 Page:1771-1777
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hedberg-Oldfors Carola,Darin Niklas,Olsson Engman Mia,Orfanos Zacharias,Thomsen Christer,van der Ven Peter F M,Oldfors Anders

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201698.pdf

Reference23 articles.

1. Dickinson AG, Meikle VM : Genetic kyphoscoliosis in mice. Lancet 1973; 1: 1186.

2. Mason RM, Palfrey AJ : Intervertebral disc degeneration in adult mice with hereditary kyphoscoliosis. J Orthop Res 1984; 2: 333–338.

3. Bridges LR, Coulton GR, Howard G, Moss J, Mason RM : The neuromuscular basis of hereditary kyphoscoliosis in the mouse. Muscle Nerve 1992; 15: 172–179.

4. Skynner MJ, Gangadharan U, Coulton GR et al: Genetic mapping of the mouse neuromuscular mutation kyphoscoliosis. Genomics 1995; 25: 207–213.

5. Blanco G, Coulton GR, Biggin A et al: The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. Hum Mol Genet 2001; 10: 9–16.

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1. Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant;Journal of Human Genetics;2024-04-08

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3. Myofibrillar myopathy hallmarks associated with ZAK deficiency;Human Molecular Genetics;2023-07-10

4. A progressive KY myopathy could be caused by a missense pathogenic variant;Clinical Genetics;2023-01-28

5. Single cell RNA sequencing analysis of mouse cochlear supporting cell transcriptomes with activated ERBB2 receptor indicates a cell-specific response that promotes CD44 activation;Frontiers in Cellular Neuroscience;2023-01-06

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