Lista de obras - Richard J Gibbons - Dominio Público Uruguay

A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2006

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

artículo científico publicado en 2010

ATRX Plays a Key Role in Maintaining Silencing at Interstitial Heterochromatic Loci and Imprinted Genes.

artículo científico publicado en 2015

ATRX and the replication of structured DNA.

artículo científico

ATRX dysfunction induces replication defects in primary mouse cells

artículo científico publicado en 2014

ATRX: taming tandem repeats

artículo científico publicado en 2010

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

artículo científico publicado en 2014

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

artículo científico publicado en 2013

Asplenia in ATR-X syndrome: a second report

artículo científico publicado en 2005

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

artículo científico publicado en 1999

Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin

artículo científico publicado en 2011

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains

artículo científico publicado en 1998

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model

artículo científico publicado en 2007

Distinct factors control histone variant H3.3 localization at specific genomic regions

artículo científico publicado en 2010

Gastrointestinal phenotype of ATR-X syndrome

artículo científico publicado en 2006

Generation of bivalent chromatin domains during cell fate decisions

artículo científico publicado en 2011

Germline and gonosomal mosaicism in the ATR-X syndrome

artículo científico publicado en 1999

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

artículo científico publicado en 2011

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

article

Intragenic enhancers act as alternative promoters

artículo científico publicado en 2012

JAK2V617F promotes replication fork stalling with disease-restricted impairment of the intra-S checkpoint response

artículo científico publicado en 2014

Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues

artículo científico publicado en 2006

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

artículo científico publicado en 1995

Maintaining memory of silencing at imprinted differentially methylated regions

artículo científico publicado en 2016

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects

artículo científico publicado en 2001

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

artículo científico publicado en 1995

Mutations in the chromatin-associated protein ATRX.

artículo científico publicado en 2008

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

artículo científico publicado en 1997

Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier

scientific article published on 01 September 2019

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia

scientific article published on 01 January 2005

Suppression of the alternative lengthening of telomere pathway by the chromatin remodelling factor ATRX.

artículo científico publicado en 2015

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription

artículo científico publicado en 2015

The Loss of ATRX Increases Susceptibility to Pancreatic Injury and Oncogenic KRAS in Female But Not Male Mice.

artículo científico publicado en 2018

The alpha-thalassemia/mental retardation syndromes

artículo científico publicado en 1996

The chromatin remodeller ATRX: a repeat offender in human disease

artículo científico publicado en 2013

The chromatin remodelling factor ATRX suppresses R-loops in transcribed telomeric repeats

artículo científico publicado en 2017

The molecular basis of α-thalassemia: a model for understanding human molecular genetics

artículo científico publicado en 2010

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

artículo científico publicado en 2009

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia

artículo científico

Using genomics to study how chromatin influences gene expression

artículo científico publicado en 2007

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

artículo científico publicado en 2014

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

artículo científico publicado en 2009

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression

artículo científico publicado en 1995

Lista de obras de Richard J Gibbons

A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain

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

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

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

ATRX Plays a Key Role in Maintaining Silencing at Interstitial Heterochromatic Loci and Imprinted Genes.

ATRX and the replication of structured DNA.

ATRX dysfunction induces replication defects in primary mouse cells

ATRX: taming tandem repeats

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

Asplenia in ATR-X syndrome: a second report

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model

Distinct factors control histone variant H3.3 localization at specific genomic regions

Gastrointestinal phenotype of ATR-X syndrome

Generation of bivalent chromatin domains during cell fate decisions

Germline and gonosomal mosaicism in the ATR-X syndrome

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

Intragenic enhancers act as alternative promoters

JAK2V617F promotes replication fork stalling with disease-restricted impairment of the intra-S checkpoint response

Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

Maintaining memory of silencing at imprinted differentially methylated regions

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

Mutations in the chromatin-associated protein ATRX.

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia

Suppression of the alternative lengthening of telomere pathway by the chromatin remodelling factor ATRX.

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription

The Loss of ATRX Increases Susceptibility to Pancreatic Injury and Oncogenic KRAS in Female But Not Male Mice.

The alpha-thalassemia/mental retardation syndromes

The chromatin remodeller ATRX: a repeat offender in human disease

The chromatin remodelling factor ATRX suppresses R-loops in transcribed telomeric repeats

The molecular basis of α-thalassemia: a model for understanding human molecular genetics

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia

Using genomics to study how chromatin influences gene expression

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression