Associated Papers
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
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Pan YE et al.
Journal of Neurochemistry, 2021
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U et al.
Orphanet Journal of Rare Diseases, 2015
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
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 systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS et al.
Nature Genetics, 2009
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