|
| |
ATRX
| Symbol: | ATRX | | Name(s): | alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | ATR2, MGC2094, MRXHF1, MRXS3, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
|
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18227278 |
Study finds that ATRX is required for normal mitotic progression in human cultured cells and in neuroprogenitors. |
| 17579672 |
some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein |
| 17609377 |
The effects of individual point mutations on the folding state and stability of the ADD domain correlate well with the levels of mutant ATRX protein in patients, providing insights into the molecular pathophysiology of ATR-X syndrome. |
| 11823444 |
findings indicate that ATRX dosage is crucial for normal development and organization of the cortex, and emphasize the relevance of our model for the study of ATRX function and disease pathogenesis |
| 14990586 |
the ATRX.Daxx complex is a novel ATP-dependent chromatin-remodeling complex, with ATRX being the core ATPase subunit and Daxx being the targeting subunit |
| 14592816 |
series of novel point mutations in ATRX detected in archival DNA samples from marrow and/or blood of patients with myelodysplastic syndrome associated with alpha-thalassemia |
| 16537041 |
REVIEW: ATRX encodes a trans-acting factor capable of influencing the expression of alpha-globin and other genes, and involved in alpha-thalassemia associated with mental retardation and acquired alpha-thalassemia associated with myelodysplastic syndrome |
| 12205100 |
involved in homologous DNA pairing |
| 15591283 |
genetic mechanisms responsible for the phenotype of patients carrying a premature stop mutation in the ATRX gene |
| 12858175 |
in individuals with myelodysplasia associated with alpha-thalassemia, somatic mutations of the gene ATRX cause an unexpectedly severe hematological phenotype compared with the wide spectrum of inherited mutations affecting this gene | →View more information from publications. |
Recent Publications on ATRX: |  |
Characterisation of ATRX, DMRT1, DMRT7 and WT1 in the platypus (Ornithorhynchus anatinus).
One of the most puzzling aspects of monotreme reproductive biology is how... | 31st October, 2009
| Discipline of Genetics, School of Molecular and Biomedical Science,
| Reprod Fertil Dev. 2009;21(8):985-91.
DOI Direct Link |
Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX-DNMT3-DNMT3L domain.
DNMT3 proteins are de novo DNA methyltransferases that are responsible for... | 17th October, 2009
| Department of Molecular Engineering, Graduate School of Engineering, Kyoto
| EMBO Rep. 2009 Nov;10(11):1235-41. Epub 2009 Oct 16.
DOI Direct Link |
The XNP remodeler targets dynamic chromatin in Drosophila.
Heterochromatic gene silencing results from the establishment of a... | 29th September, 2009
| Department of Biological Chemistry and Molecular Pharmacology, Harvard
| Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14472-7. Epub 2009 Aug 11.
DOI Direct Link |
Loss of ATRX in chondrocytes has minimal effects on skeletal development.
BACKGROUND: Mutations in the human ATRX gene cause developmental defects,... | 24th September, 2009
| Department of Biochemistry, University of Western Ontario, London,
| PLoS One. 2009 Sep 23;4(9):e7106.
DOI Direct Link |
Partial ATRX gene duplication causes ATR-X syndrome.
BACKGROUND: Mutations in the human ATRX gene cause developmental defects,... | 19th September, 2009
| Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
| Am J Med Genet A. 2009 Oct;149A(10):2317-20.
DOI Direct Link |
→View more research publications. |
ATRX results (if any) from reagent suppliers | 
|
Search Bioportfolio and other Life Science Sites for ATRX,
or search for ATRX on BioPortfolio's antibody search engine.
This page has been viewed 393 times
Recent Search Terms used to find this page: atrx duplication | ATRX patient phenotype photographs | XH2 vs ATR-X gene | if with rad54 antibody | atrx syndrome | atrx syndrome | alpha thalassemia and atrx syndrome | atrx syndrome videos | incidence of ATR-X syndrome | .
Resources from the NCBI used on this page, NCBI's standard disclaimer applies.
|
