(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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1 August 2017

Annabel Whibley

5

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John Grigg

object named as

John Grigg

8

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Michael Stratton

20

object named as

Michael R Stratton

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1 August 2017

15

Andrew P Futreal

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1 August 2017

2

Patrick S Tarpey

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1 August 2017

6

Jackie Boyle

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1 August 2017

3

Andrea Licata

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1 August 2017

Anna Hackett

1

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1 August 2017

James Cox

4

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1 August 2017

Carolyn Rogers

7

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1 August 2017

Michael Partington

9

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1 August 2017

Roger E Stevenson

10

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1 August 2017

John Tolmie

11

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1 August 2017

John Rw Yates

12

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1 August 2017

Gillian Turner

13

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1 August 2017

Meredith Wilson

14

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1 August 2017

Mark Corbett

16

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1 August 2017

Marie Shaw

17

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1 August 2017

F Lucy Raymond

19

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1 August 2017

Charles E Schwartz

21

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1 August 2017

Fatima E Abidi

22

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1 August 2017

publication date

23 December 2009

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

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

cites work

1 reference

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

6 July 2018

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

CASK Functions as a Mg2+-independent neurexin kinase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

6 July 2018

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CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

Transcriptional modification by a CASK-interacting nucleosome assembly protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

Tbr1 regulates differentiation of the preplate and layer 6.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

Mapping and expression analysis of the human CASK gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

A learning network model of the neural integrator of the oculomotor system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987321

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

Population analysis of large copy number variants and hotspots of human genetic disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2009.220

An olfactory sensory map develops in the absence of normal projection neurons or GABAergic interneurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

X-linked infantile periodic alternating nystagmus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

A proposed neural network for the integrator of the oculomotor system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

Modern concepts of brainstem anatomy: from extraocular motoneurons to proprioceptive pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.220

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus

21 January 2018

1 reference

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