(Q51891945)

17 April 2018

title

Mutations in the chromatin-associated protein ATRX. (English)

1 reference

17 April 2018

author

Richard J Gibbons

1

1 reference

17 April 2018

David P. Steensma

6

1 reference

17 April 2018

Jan Traeger-Synodinos

10

1 reference

17 April 2018

author name string

Takahito Wada

2

1 reference

17 April 2018

Christopher A Fisher

3

1 reference

17 April 2018

Nicola Malik

4

1 reference

17 April 2018

Matthew J Mitson

5

1 reference

17 April 2018

Alan Fryer

7

1 reference

17 April 2018

David R Goudie

8

1 reference

17 April 2018

Ian D Krantz

9

1 reference

17 April 2018

publication date

1 June 2008

1 reference

17 April 2018

published in

Human Mutation

1 reference

17 April 2018

volume

29

1 reference

17 April 2018

issue

6

1 reference

17 April 2018

page(s)

796-802

1 reference

17 April 2018

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

Epigenetic regulation of mammalian pericentric heterochromatin in vivo by HP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

Carpenter-Waziri syndrome results from a mutation in XNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

The PHD finger, a nuclear protein-interaction domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Molecular-clinical spectrum of the ATR-X syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Heterochromatin and ND10 are cell-cycle regulated and phosphorylation-dependent alternate nuclear sites of the transcription repressor Daxx and SWI/SNF protein ATRX

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with α thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Partial duplications of the ATRX gene cause the ATR-X syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

XNP mutation in a large family with Juberg-Marsidi syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20734

7 January 2021

Identifiers

DOI

10.1002/HUMU.20734

1 reference

17 April 2018

1 reference

17 April 2018