A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical fac...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, D, Gibbons, R
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2000

समान संसाधन

A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1999)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
द्वारा: Law, M, और अन्य
प्रकाशित: (2003)

Identification of mutations in ATRX by RNase mismatch cleavage.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1997)

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
द्वारा: Jezela-Stanek, A, और अन्य
प्रकाशित: (2009)

ATRX: taming tandem repeats.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2010)

Functional significance of mutations in the Snf2 domain of ATRX.
द्वारा: Mitson, M, और अन्य
प्रकाशित: (2011)

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
द्वारा: Steensma, D, और अन्य
प्रकाशित: (2004)

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
द्वारा: Argentaro, A, और अन्य
प्रकाशित: (2007)

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
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प्रकाशित: (2007)

Syndromal mental retardation due to mutations in a regulator of gene expression.
द्वारा: Gibbons, R, और अन्य
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Mutations in the human ATRX gene, encoding a putative transcription regulator, cause diverse changes in the pattern of DNA methylation.
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प्रकाशित: (2000)

XNP/ATRX at sites of nucleosome replacement.
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प्रकाशित: (2009)

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2000)

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द्वारा: Gibbons, R, और अन्य
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The chromatin remodeller ATRX: A repeat offender in human disease
द्वारा: Clynes, D, और अन्य
प्रकाशित: (2013)

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द्वारा: Clynes, D, और अन्य
प्रकाशित: (2013)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1995)

Mutations in the chromatin-associated protein ATRX.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2008)

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द्वारा: Fisher, C, और अन्य
प्रकाशित: (2007)

DHPLC analysis of the ATRX gene in myelodysplastic syndrome (MDS) associated with acquired alpha thalassemia (AT-MDS): Novel mutation detection despite somatic mosaicism.
द्वारा: Steensma, D, और अन्य
प्रकाशित: (2003)

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द्वारा: Picketts, D, और अन्य
प्रकाशित: (1998)

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).
द्वारा: Haas, P, और अन्य
प्रकाशित: (2006)

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
द्वारा: Costa, D, और अन्य
प्रकाशित: (2006)

A novel splicing mutation in the gene encoding the chromatin-associated factor ATRX associated with acquired hemoglobin H disease in myelodysplastic syndrome (ATMDS)
द्वारा: Steensma, D, और अन्य
प्रकाशित: (2004)

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द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2002)

ATRX and the replication of structured DNA.
द्वारा: Clynes, D, और अन्य
प्रकाशित: (2013)

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
द्वारा: Qiao, Y, और अन्य
प्रकाशित: (2014)

Epilepsy and Mental Retardation
द्वारा: J Gordon Millichap
प्रकाशित: (1991-11-01)

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2003)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
द्वारा: McPherson, E, और अन्य
प्रकाशित: (1995)

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
द्वारा: Picketts, D, और अन्य
प्रकाशित: (1996)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the a thalassaemia myelodysplasia syndrome (ATMDS)
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2003)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the alpha thalassemia myelodysplasia syndrome (ATMDS).
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2003)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
द्वारा: Malik, N, और अन्य
प्रकाशित: (2006)

How to tackle challenging ChIP-Seq, with long-range cross-linking, using ATRX as an example
द्वारा: Truch, J, और अन्य
प्रकाशित: (2018)

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1997)

ATRX dysfunction induces replication defects in primary mouse cells
द्वारा: Clynes, D, और अन्य
प्रकाशित: (2014)

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.
द्वारा: Bérubé, N, और अन्य
प्रकाशित: (2005)