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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, Rad51, RAD52, Histone, Daxx
Papers using RAD54 antibodies
Papers on RAD54
Relaxed chromatin formation and weak suppression of homologous pairing by the testis-specific linker histone H1T.
Kurumizaka et al., In Biochemistry, Feb 2016
An in vitro homologous-pairing assay revealed that H1T weakly inhibited RAD51/RAD54-mediated homologous pairing in chromatin, although the somatic H1 subtypes, H1.0, H1.1, H1.2, H1.3, H1.4, and H1.5, substantially suppressed it.
TSC-22 Promotes Interleukin-2-Deprivation Induced Apoptosis in T-Lymphocytes.
Biola-Vidamment et al., Châtenay-Malabry, France. In J Cell Biochem, Feb 2016
UNASSIGNED: Originally described as a TGF-β-inducible gene, tsc-22 (Transforming growth factor-beta Stimulated Clone 22) encodes a transcriptional regulator affecting biological processes such as cell growth, differentiation or apoptosis.
Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
Varela et al., Buenos Aires, Argentina. In Am J Med Genet A, Feb 2016
UNASSIGNED: Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16.
Prognostic significance of histomolecular subgroups of adult anaplastic (WHO Grade III) gliomas: applying the 'integrated' diagnosis approach.
Santosh et al., Bengaluru, India. In J Clin Pathol, Feb 2016
Clinical, histological and molecular parameters, including 1p/19q codeletion, isocitrate dehydrogenase gene (IDH1)-R132H positivity, α thalassemia/mental retardation syndrome X-linked gene (ATRX) expression and O(6)-methylguanine-DNA-methyltransferase gene (MGMT) promoter methylation (mMGMT), were correlated with overall survival (OS) and recurrence-free survival (RFS).
TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors.
Versteeg et al., Amsterdam, Netherlands. In Nat Genet, Dec 2015
TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis.
Molecular mechanisms of activity and derepression of alternative lengthening of telomeres.
Reddel et al., Sydney, Australia. In Nat Struct Mol Biol, Nov 2015
This multistep process is facilitated by loss of the ATRX or DAXX chromatin-remodeling factors and by abnormalities of the telomere nucleoprotein architecture, including altered DNA sequence and decreased TRF2 saturation.
Telomere maintenance and the etiology of adult glioma.
Wrensch et al., Rochester, United States. In Neuro Oncol, Nov 2015
Tumor sequencing studies further indicate that acquired somatic mutations of TERT and ATRX are among the most frequent alterations found in adult gliomas.
Telomerase activation by genomic rearrangements in high-risk neuroblastoma.
Fischer et al., Köln, Germany. In Nature, Nov 2015
These rearrangements occurred only in high-risk neuroblastomas (12/39, 31%) in a mutually exclusive fashion with MYCN amplifications and ATRX mutations, which are known genetic events in this tumour type.
The Daxx/Atrx Complex Protects Tandem Repetitive Elements during DNA Hypomethylation by Promoting H3K9 Trimethylation.
Songyang et al., Guangzhou, China. In Cell Stem Cell, Oct 2015
Here we explore the processes involved by investigating the role of the chromatin factors Daxx and Atrx.
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
Zhang et al., In N Engl J Med, Jul 2015
Mutations in IDH, TP53, and ATRX and codeletion of chromosome arms 1p and 19q (1p/19q codeletion) have been implicated as clinically relevant markers of lower-grade gliomas.
Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells.
Banaszynski et al., Cambridge, United Kingdom. In Nature, Jul 2015
Deposition at a subset of these elements is dependent upon the H3.3 chaperone complex containing α-thalassaemia/mental retardation syndrome X-linked (ATRX) and death-domain-associated protein (DAXX).
The role of MAGT1 in genetic syndromes.
Rajcan-Separovic et al., In Magnes Res, Jun 2015
Similarly, the identification of a copy-number variation (CNV) leading to dysfunctional MAGT1 in a family with atypical ATRX syndrome and skin abnormalities, suggested that the MAGT1 defect could be responsible for the cutaneous problems.
The Role of Chemotherapy in Well-Differentiated Gastroenteropancreatic Neuroendocrine Tumors.
Pavel et al., Tampa, United States. In Front Horm Res, 2014
It will also be important to evaluate whether newly discovered mutations in pancreatic NETs, such as DAXX/ATRX, are associated with response to chemotherapy.
Neuroblastoma: oncogenic mechanisms and therapeutic exploitation of necroptosis.
Raschellà et al., Roma, Italy. In Cell Death Dis, 2014
High-risk NB frequently displays MYCN amplification, mutations in ALK and ATRX, and genomic rearrangements in TERT genes.
TERT promoter mutations are a rare event in gastrointestinal stromal tumors.
Saito et al., Tokyo, Japan. In Springerplus, 2014
Irregular telomerase activation can be maintained by TERT hot spot alterations and alternative lengthening of telomeres (ALT) characterized by inactivation of either the alpha-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated protein (DAXX).
Herpes simplex virus is equipped with RNA- and protein-based mechanisms to repress expression of ATRX, an effector of intrinsic immunity.
Coen et al., Boston, United States. In J Virol, 2012
ATRX protein and its mRNA were depleted in cells lytically infected with HSV, and ATRX protein was also depleted in cells infected with human cytomegalovirus.
Saccharomyces cerevisiae Dmc1 and Rad51 proteins preferentially function with Tid1 and Rad54 proteins, respectively, to promote DNA strand invasion during genetic recombination.
Kowalczykowski et al., Davis, United States. In J Biol Chem, 2012
Rad51-Rad54 function together to promote intersister DNA strand exchange, whereas Dmc1-Tid1 tilt the bias toward interhomolog DNA strand exchange.
Loss of ATRX or DAXX expression and concomitant acquisition of the alternative lengthening of telomeres phenotype are late events in a small subset of MEN-1 syndrome pancreatic neuroendocrine tumors.
Matsukuma et al., Baltimore, United States. In Mod Pathol, 2012
These findings establish the existence of ATRX and DAXX defects and the alternative lengthening of telomeres phenotype in pancreatic neuroendocrine tumors in the context of MEN-1 syndrome
Expressional and mutational analysis of ATRX gene in gastric, colorectal and prostate cancers.
Lee et al., In Apmis, 2012
Positive ATRX immunostaining was observed in 95%, 97% and 93% of the GC, CRC, and PCA, respectively.
Association of age at diagnosis and genetic mutations in patients with neuroblastoma.
St Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project et al., New York City, United States. In Jama, 2012
ATRX mutations were associated with age at diagnosis in children and young adults with stage 4 neuroblastoma.
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