ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of syndromal mental retardation associated with alpha thalassaemia (ATR-X syndrome). In this study, we have characterised the full-length cDNA and predicted structure of the ATRX protein. Comparative analysis...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy:	Picketts, D, Higgs, D, Bachoo, S, Blake, D, Quarrell, O, Gibbons, R
Format:	Journal article
Język:	English
Wydane:	1996

Podobne zapisy

Identification of mutations in ATRX by RNase mismatch cleavage.
od: Gibbons, R, i wsp.
Wydane: (1997)

Functional significance of mutations in the Snf2 domain of ATRX.
od: Mitson, M, i wsp.
Wydane: (2011)

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
od: Gibbons, R, i wsp.
Wydane: (2000)

ATR-X SYNDROME RESULTS FROM MUTATIONS IN XH2 A PUTATIVE GLOBAL TRANSCRIPTIONAL REGULATOR
od: Gibbons, R, i wsp.
Wydane: (1995)

A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain.
od: Garrick, D, i wsp.
Wydane: (2004)

Germline and gonosomal mosaicism in the ATR-X syndrome.
od: Bachoo, S, i wsp.
Wydane: (1999)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
od: Gibbons, R, i wsp.
Wydane: (1995)

Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53.
od: Seah, C, i wsp.
Wydane: (2008)

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
od: Steensma, D, i wsp.
Wydane: (2004)

A novel splicing mutation in the gene encoding the chromatin-associated factor ATRX associated with acquired hemoglobin H disease in myelodysplastic syndrome (ATMDS)
od: Steensma, D, i wsp.
Wydane: (2004)

Molecular-clinical spectrum of the ATR-X syndrome.
od: Gibbons, R, i wsp.
Wydane: (2000)

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
od: Gibbons, R, i wsp.
Wydane: (2003)

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
od: Gibbons, R, i wsp.
Wydane: (1997)

Syndromal mental retardation due to mutations in a regulator of gene expression.
od: Gibbons, R, i wsp.
Wydane: (1995)

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.
od: Picketts, D, i wsp.
Wydane: (1998)

Disruption of ATRX in mouse by conditional knockout.
od: Gibbons, R, i wsp.
Wydane: (2002)

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
od: Costa, D, i wsp.
Wydane: (2006)

Acquired alpha-thalassaernia in association with myelodysplastic syndrome (ATMDS): Two further private ATRX mutations
od: Fisher, C, i wsp.
Wydane: (2007)

Mutations in the human ATRX gene, encoding a putative transcription regulator, cause diverse changes in the pattern of DNA methylation.
od: Garrick, D, i wsp.
Wydane: (2000)

ATRX: taming tandem repeats.
od: Gibbons, R, i wsp.
Wydane: (2010)

A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.
od: Gibbons, R, i wsp.
Wydane: (1999)

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).
od: Haas, P, i wsp.
Wydane: (2006)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the a thalassaemia myelodysplasia syndrome (ATMDS)
od: Gibbons, R, i wsp.
Wydane: (2003)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the alpha thalassemia myelodysplasia syndrome (ATMDS).
od: Gibbons, R, i wsp.
Wydane: (2003)

Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.
od: Medina, C, i wsp.
Wydane: (2009)

DHPLC analysis of the ATRX gene in myelodysplastic syndrome (MDS) associated with acquired alpha thalassemia (AT-MDS): Novel mutation detection despite somatic mosaicism.
od: Steensma, D, i wsp.
Wydane: (2003)

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects
od: Tillotson, R, i wsp.
Wydane: (2023)

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
od: Argentaro, A, i wsp.
Wydane: (2007)

Mutations in the chromatin-associated protein ATRX.
od: Gibbons, R, i wsp.
Wydane: (2008)

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
od: Qiao, Y, i wsp.
Wydane: (2014)

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.
od: Bérubé, N, i wsp.
Wydane: (2005)

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
od: Guerrini, R, i wsp.
Wydane: (2000)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
od: Law, M, i wsp.
Wydane: (2003)

XNP/ATRX at sites of nucleosome replacement.
od: Garrick, D, i wsp.
Wydane: (2009)

Gastrointestinal phenotype of ATR-X syndrome.
od: Martucciello, G, i wsp.
Wydane: (2006)

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia
od: Steensma, D, i wsp.
Wydane: (2004)

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia.
od: Steensma, D, i wsp.
Wydane: (2005)

The chromatin remodeller ATRX: A repeat offender in human disease
od: Clynes, D, i wsp.
Wydane: (2013)

The chromatin remodeller ATRX: a repeat offender in human disease.
od: Clynes, D, i wsp.
Wydane: (2013)

ATRX and the replication of structured DNA.
od: Clynes, D, i wsp.
Wydane: (2013)