Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
about
Alpha thalassaemia-mental retardation, X linkedThe SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genomeMutations of a novel human RAD54 homologue, RAD54B, in primary cancerLocalization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomesChromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase geneSystematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachInteraction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardationThe ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9ASAP, a novel protein complex involved in RNA processing and apoptosisDnmt3L is a transcriptional repressor that recruits histone deacetylase.Purification and biochemical heterogeneity of the mammalian SWI-SNF complexThe ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodiesMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationImprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activityMolecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndromeTissue-specific and developmental stage-specific DNA binding by a mammalian SWI/SNF complex associated with human fetal-to-adult globin gene switchingThe chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesisCornelia de Lange syndrome, cohesin, and beyondAbsence makes the search grow longerCGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusMammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomicsMECP2 disorders: from the clinic to mice and backHistone regulation in the CNS: basic principles of epigenetic plasticityMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesFragile X and X-linked intellectual disability: four decades of discoveryStructural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRXCombinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatinATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndromeSth1p, a Saccharomyces cerevisiae Snf2p/Swi2p homolog, is an essential ATPase in RSC and differs from Snf/Swi in its interactions with histones and chromatin-associated proteins.The Role of ATRX in the Alternative Lengthening of Telomeres (ALT) Phenotype2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problemThe SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseasesDysmorphology demystifiedDifferential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor geneDyrk1A potentiates steroid hormone-induced transcription via the chromatin remodeling factor Arip4Association of Lsh, a regulator of DNA methylation, with pericentromeric heterochromatin is dependent on intact heterochromatinCalcium-dependent dephosphorylation of the histone chaperone DAXX regulates H3.3 loading and transcription upon neuronal activationLoss of ATRX does not confer susceptibility to osteoarthritisα-thalassaemia
P2860
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P2860
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@ast
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@en
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@en-gb
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@nl
type
label
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@ast
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@en
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@en-gb
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@nl
prefLabel
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@ast
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@en
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@en-gb
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@nl
P2093
P3181
P1433
P1476
Mutations in a putative global ...... a-thalassemia (ATR-X syndrome)
@en
P2093
D J Picketts
R J Gibbons
P304
P3181
P356
10.1016/0092-8674(95)90287-2
P407
P577
1995-03-24T00:00:00Z