Associated Papers
Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.
Guo Q et al.
Cells, 2023
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Zhang Y et al.
Italian Journal of Pediatrics, 2022
Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia.
Xie G et al.
Frontiers in Genetics, 2022
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Mukherjee K et al.
Molecular Genetics & Genomic Medicine, 2020
Structural Basis for the High-Affinity Interaction between CASK and Mint1.
Wu X et al.
Structure (london, England : 1993), 2020
Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F et al.
Human Mutation, 2018
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW et al.
Human Genetics, 2018
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
Identifying pathogenicity of human variants via paralog-based yeast complementation.
Yang F et al.
Plos Genetics, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P et al.
American Journal of Medical Genetics. Part A, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U et al.
Orphanet Journal of Rare Diseases, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.
LaConte LE et al.
Plos One, 2014
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 L et al.
Orphanet Journal of Rare Diseases, 2012
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S et al.
Human Genetics, 2012
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U et al.
Journal of Medical Genetics, 2011
Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures.
Wei Z et al.
Molecular Cell, 2011
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
Hackett A et al.
European Journal of Human Genetics : Ejhg, 2010
Calcium/calmodulin-dependent serine protein kinase and mental retardation.
Hsueh YP
Annals of Neurology, 2009
A missense mutation in CASK causes FG syndrome in an Italian family.
Piluso G et al.
American Journal of Human Genetics, 2009