CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes (Q34329072)

1 August 2017

title

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes (English)

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1 August 2017

18

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Annabel Whibley

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John Grigg

object named as

John Grigg

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Michael Stratton

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object named as

Michael R Stratton

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Andrew P Futreal

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Patrick S Tarpey

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Jackie Boyle

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Andrea Licata

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Gillian Turner

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Anna Hackett

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James Cox

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Carolyn Rogers

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Michael Partington

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Roger E Stevenson

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John Tolmie

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John Rw Yates

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Meredith Wilson

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Mark Corbett

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Marie Shaw

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F Lucy Raymond

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Charles E Schwartz

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Fatima E Abidi

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publication date

23 December 2009

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European Journal of Human Genetics

1 August 2017

published in

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volume

18

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1 August 2017

issue

5

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1 August 2017

page(s)

544-552

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The genetic landscape of intellectual disability arising from chromosome X.

1 August 2017

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CASK point mutation regulates protein-protein interactions and NR2b promoter activity

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A missense mutation in CASK causes FG syndrome in an Italian family

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

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CASK Functions as a Mg2 -independent neurexin kinase

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Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

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Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

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Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

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Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

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The role of the MAGUK protein CASK in neural development and synaptic function.

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Linkage analysis of two families with X-linked recessive congenital motor nystagmus

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Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

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CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis

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Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

6 July 2018

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Transcriptional modification by a CASK-interacting nucleosome assembly protein

6 July 2018

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Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

6 July 2018

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CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with caskin 1, a novel CASK-binding protein

6 July 2018

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Mapping and expression analysis of the human CASK gene

6 July 2018

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Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2

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Identification of an evolutionarily conserved heterotrimeric protein complex involved in protein targeting

6 July 2018

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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

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The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy.

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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

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The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

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21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/20029458

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Quantitative evaluation of electroretinogram before cataract surgery

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20029458

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.220

1 reference

1 August 2017

1 reference

1 August 2017

1 reference