An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy-Reference-Cited by-同舟云学术

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An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

Published:2018-12-14 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

LaConte Leslie E. W.¹,Chavan Vrushali¹,DeLuca Stephanie¹,Rubin Karol²,Malc Jessica¹,Berry Susan³²,Gail Summers C.³⁴,Mukherjee Konark¹^ORCID

Affiliation:

1. Virginia Tech Carilion Research Institute Roanoke Virginia

2. Department of Genetics, Cell Biology & DevelopmentUniversity of Minnesota Minneapolis Minnesota

3. Department of PediatricsUniversity of Minnesota Minneapolis Minnesota

4. Department of Ophthalmology & Visual NeurosciencesUniversity of Minnesota Minneapolis Minnesota

Funder

Virginia Polytechnic Institute and State University

National Eye Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.60687

Reference39 articles.

1. GROMACS: High performance molecular simulations through multi-level parallelism from laptops to supercomputers

2. Deletion of CASK in mice is lethal and impairs synaptic function

3. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

4. A Tripartite Protein Complex with the Potential to Couple Synaptic Vesicle Exocytosis to Cell Adhesion in Brain

5. Light-adapted electroretinograms in optic nerve hypoplasia

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1. Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein;Journal of Medical Genetics;2024-04-26

2. Interrogation and validation of the interactome of neuronal Munc18-interacting Mint proteins with AlphaFold2;Journal of Biological Chemistry;2024-01

3. Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery;Neural Development;2023-10-07

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

5. Calcium/Calmodulin-Dependent Serine Protein Kinase (CASK) Gene Polymorphisms in Pigeons;Animals;2023-06-22

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