Two heterozygous mutations in the calcium/ <scp>calmodulin‐dependent</scp> serine protein kinase gene ( <i>CASK</i> ) in cases with developmental disorders-Reference-Cited by-同舟云学术

Two heterozygous mutations in the calcium/ calmodulin‐dependent serine protein kinase gene ( CASK ) in cases with developmental disorders

Published:2022-09-28 Issue:11 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Yang Kunfang¹^ORCID,Lin Longlong¹,Yuan Fang¹,Li Xiaoguang²,Liu Zhiping¹,Lan Xiaoping¹,Wang Yilin¹,Ren Yun¹,Li Jiaoyan³,Chen Yucai¹

Affiliation:

1. Department of Neurology, Shanghai Children's Hospital, School of Medicine Shanghai Jiao Tong University Shanghai China

2. Department of Emergency Shanghai United Family Hospital Shanghai China

3. Department of Pediatrics Shanghai United Family Hospital Shanghai China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2065

Reference26 articles.

1. Presynaptic dysfunction in CASK-related neurodevelopmental disorders

2. Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Cutler Allen R.;American Journal of Human Genetics,1992

3. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes

4. CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins

5. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

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1. MiR-146a induces the aging of mesenchymal stem cell via CASK;Genome Instability & Disease;2024-01-17

2. Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein;Genes;2023-08-20