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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, D, Gibbons, R
التنسيق:	Journal article
اللغة:	English
منشور في:	2000

مواد مشابهة

A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.
حسب: Gibbons, R, وآخرون
منشور في: (1999)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
حسب: Law, M, وآخرون
منشور في: (2003)

Identification of mutations in ATRX by RNase mismatch cleavage.
حسب: Gibbons, R, وآخرون
منشور في: (1997)

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
حسب: Jezela-Stanek, A, وآخرون
منشور في: (2009)

ATRX: taming tandem repeats.
حسب: Gibbons, R, وآخرون
منشور في: (2010)

Functional significance of mutations in the Snf2 domain of ATRX.
حسب: Mitson, M, وآخرون
منشور في: (2011)

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
حسب: Steensma, D, وآخرون
منشور في: (2004)

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
حسب: Argentaro, A, وآخرون
منشور في: (2007)

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
حسب: Nan, X, وآخرون
منشور في: (2007)

Syndromal mental retardation due to mutations in a regulator of gene expression.
حسب: Gibbons, R, وآخرون
منشور في: (1995)

Mutations in the human ATRX gene, encoding a putative transcription regulator, cause diverse changes in the pattern of DNA methylation.
حسب: Garrick, D, وآخرون
منشور في: (2000)

XNP/ATRX at sites of nucleosome replacement.
حسب: Garrick, D, وآخرون
منشور في: (2009)

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
حسب: Gibbons, R, وآخرون
منشور في: (2000)

The α-thalassemia/mental retardation syndromes
حسب: Gibbons, R, وآخرون
منشور في: (1996)

The alpha-thalassemia/mental retardation syndromes.
حسب: Gibbons, R, وآخرون
منشور في: (1996)

The chromatin remodeller ATRX: A repeat offender in human disease
حسب: Clynes, D, وآخرون
منشور في: (2013)

The chromatin remodeller ATRX: a repeat offender in human disease.
حسب: Clynes, D, وآخرون
منشور في: (2013)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
حسب: Gibbons, R, وآخرون
منشور في: (1995)

Mutations in the chromatin-associated protein ATRX.
حسب: Gibbons, R, وآخرون
منشور في: (2008)

Acquired alpha-thalassaernia in association with myelodysplastic syndrome (ATMDS): Two further private ATRX mutations
حسب: Fisher, C, وآخرون
منشور في: (2007)

DHPLC analysis of the ATRX gene in myelodysplastic syndrome (MDS) associated with acquired alpha thalassemia (AT-MDS): Novel mutation detection despite somatic mosaicism.
حسب: Steensma, D, وآخرون
منشور في: (2003)

The genetic basis for mental retardation.
حسب: Raynham, H, وآخرون
منشور في: (1996)

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.
حسب: Picketts, D, وآخرون
منشور في: (1998)

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).
حسب: Haas, P, وآخرون
منشور في: (2006)

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
حسب: Costa, D, وآخرون
منشور في: (2006)

A novel splicing mutation in the gene encoding the chromatin-associated factor ATRX associated with acquired hemoglobin H disease in myelodysplastic syndrome (ATMDS)
حسب: Steensma, D, وآخرون
منشور في: (2004)

Disruption of ATRX in mouse by conditional knockout.
حسب: Gibbons, R, وآخرون
منشور في: (2002)

ATRX and the replication of structured DNA.
حسب: Clynes, D, وآخرون
منشور في: (2013)

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
حسب: Qiao, Y, وآخرون
منشور في: (2014)

Epilepsy and Mental Retardation
حسب: J Gordon Millichap
منشور في: (1991-11-01)

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
حسب: Gibbons, R, وآخرون
منشور في: (2003)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
حسب: McPherson, E, وآخرون
منشور في: (1995)

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
حسب: Picketts, D, وآخرون
منشور في: (1996)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the a thalassaemia myelodysplasia syndrome (ATMDS)
حسب: Gibbons, R, وآخرون
منشور في: (2003)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the alpha thalassemia myelodysplasia syndrome (ATMDS).
حسب: Gibbons, R, وآخرون
منشور في: (2003)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
حسب: Malik, N, وآخرون
منشور في: (2006)

How to tackle challenging ChIP-Seq, with long-range cross-linking, using ATRX as an example
حسب: Truch, J, وآخرون
منشور في: (2018)

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
حسب: Gibbons, R, وآخرون
منشور في: (1997)

ATRX dysfunction induces replication defects in primary mouse cells
حسب: Clynes, D, وآخرون
منشور في: (2014)

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.
حسب: Bérubé, N, وآخرون
منشور في: (2005)