Novel CASK mutations in cases with syndromic microcephaly-Reference-Cited by-同舟云学术

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Novel CASK mutations in cases with syndromic microcephaly

Published:2018-05-11 Issue:7 Volume:39 Page:993-1001
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cristofoli Francesca¹^ORCID,Devriendt Koen²,Davis Erica E.³,Van Esch Hilde²⁴,Vermeesch Joris R.¹²

Affiliation:

1. Laboratory for Cytogenetics and Genome Research; Center for Human Genetics; KU Leuven; Leuven Belgium

2. Center for Human Genetics; University Hospitals Leuven; Leuven Belgium

3. Center for Human Disease Modeling; Duke University Medical Center; Durham North Carolina

4. Laboratory for the Genetics of Cognition; Center for Human Genetics; KU Leuven; Leuven Belgium

Funder

National Institute of Mental Health

KU Leuven

Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP)

Fonds Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. NGS-Logistics: Federated analysis of NGS sequence variants across multiple locations;Ardeshirdavani;Genome Medicine,2014

2. Caenorhabditis elegans LIN-2A and mammalian neuronal CASK are prototypical members of a subfamily of MAGUKs (membrane-associated guanylate kinases) characterized by a common kinase-like domain and a guanylate kinase domain predicted to bind ATP;Baines;Biochemical Journal,1996

3. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus;Beunders;The American Journal of Human Genetics,2013

4. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies;Borck;Genome Research,2015

5. 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;Burglen;Orphanet Journal of Rare Diseases,2012

Cited by 16 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. Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery;Neural Development;2023-10-07

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

3. Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome;Cells;2023-04-18

4. Expanding the natural history of CASK ‐related disorders to the prenatal period;Developmental Medicine & Child Neurology;2022-09-29

5. Pathogenic variants in CASK : Expanding the genotype–phenotype correlations;American Journal of Medical Genetics Part A;2022-06-07

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