A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.

We describe a patient with acquired alpha-thalassemia myelodysplastic syndrome (ATMDS). A previously healthy 66-year-old man presented with hemoglobin of 9.3 g/dL, mean corpuscular volume 59 fL, and a bone marrow aspirate with increased erythroid precursors and hypolobulated megakaryocytes. Hemoglob...

Descrizione completa

Dettagli Bibliografici
Autori principali:	Costa, D, Fisher, C, Miller, K, Pihan, G, Steensma, D, Gibbons, R, Higgs, D
Natura:	Journal article
Lingua:	English
Pubblicazione:	2006

Documenti analoghi

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
di: Steensma, D, et al.
Pubblicazione: (2004)

DHPLC analysis of the ATRX gene in myelodysplastic syndrome (MDS) associated with acquired alpha thalassemia (AT-MDS): Novel mutation detection despite somatic mosaicism.
di: Steensma, D, et al.
Pubblicazione: (2003)

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).
di: Haas, P, et al.
Pubblicazione: (2006)

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.
di: Steensma, D, et al.
Pubblicazione: (2005)

Acquired alpha-thalassaernia in association with myelodysplastic syndrome (ATMDS): Two further private ATRX mutations
di: Fisher, C, et al.
Pubblicazione: (2007)

A novel splicing mutation in the gene encoding the chromatin-associated factor ATRX associated with acquired hemoglobin H disease in myelodysplastic syndrome (ATMDS)
di: Steensma, D, et al.
Pubblicazione: (2004)

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.
di: Steensma, D, et al.
Pubblicazione: (2004)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the alpha thalassemia myelodysplasia syndrome (ATMDS).
di: Gibbons, R, et al.
Pubblicazione: (2003)

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
di: Gibbons, R, et al.
Pubblicazione: (2003)

The alpha-thalassemia/mental retardation syndromes.
di: Gibbons, R, et al.
Pubblicazione: (1996)

Mutations in the chromatin-associated protein ATRX.
di: Gibbons, R, et al.
Pubblicazione: (2008)

Identification of mutations in ATRX by RNase mismatch cleavage.
di: Gibbons, R, et al.
Pubblicazione: (1997)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
di: Law, M, et al.
Pubblicazione: (2003)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
di: Malik, N, et al.
Pubblicazione: (2006)

ATRX: taming tandem repeats.
di: Gibbons, R, et al.
Pubblicazione: (2010)

Functional significance of mutations in the Snf2 domain of ATRX.
di: Mitson, M, et al.
Pubblicazione: (2011)

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia
di: Steensma, D, et al.
Pubblicazione: (2004)

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia.
di: Steensma, D, et al.
Pubblicazione: (2005)

α-Thalassemia, mental retardation, and myelodysplastic syndrome.
di: Gibbons, R
Pubblicazione: (2012)

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
di: Argentaro, A, et al.
Pubblicazione: (2007)

XNP/ATRX at sites of nucleosome replacement.
di: Garrick, D, et al.
Pubblicazione: (2009)

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
di: Shaomin Wu, et al.
Pubblicazione: (2022-01-01)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
di: Gibbons, R, et al.
Pubblicazione: (1995)

5-Azacytidine treatment of the patient with ATMDS (vol 76, pg 432, 2006)
di: Costa, D, et al.
Pubblicazione: (2006)

The chromatin remodeller ATRX: A repeat offender in human disease
di: Clynes, D, et al.
Pubblicazione: (2013)

The chromatin remodeller ATRX: a repeat offender in human disease.
di: Clynes, D, et al.
Pubblicazione: (2013)

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
di: Guerrini, R, et al.
Pubblicazione: (2000)

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
di: Jezela-Stanek, A, et al.
Pubblicazione: (2009)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the a thalassaemia myelodysplasia syndrome (ATMDS)
di: Gibbons, R, et al.
Pubblicazione: (2003)

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
di: Picketts, D, et al.
Pubblicazione: (1996)

Disruption of ATRX in mouse by conditional knockout.
di: Gibbons, R, et al.
Pubblicazione: (2002)

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
di: Gibbons, R, et al.
Pubblicazione: (2000)

ATRX and the replication of structured DNA.
di: Clynes, D, et al.
Pubblicazione: (2013)

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
di: Qiao, Y, et al.
Pubblicazione: (2014)

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
di: Haas, P, et al.
Pubblicazione: (2009)

Melanesians and Polynesians share a unique alpha-thalassemia mutation.
di: Hill, A, et al.
Pubblicazione: (1985)

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.
di: Picketts, D, et al.
Pubblicazione: (1998)

Mutant ATRX: pathogenesis of ATRX syndrome and cancer
di: Kejia Yuan, et al.
Pubblicazione: (2024-10-01)

THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
di: Raynham, H, et al.
Pubblicazione: (1993)

Mutations in the human ATRX gene, encoding a putative transcription regulator, cause diverse changes in the pattern of DNA methylation.
di: Garrick, D, et al.
Pubblicazione: (2000)