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

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

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

http://www.wikidata.org/entity/Q35559646

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Alpha thalassaemia-mental retardation, X linked The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9 Histone regulation in the CNS: basic principles of epigenetic plasticity Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy ATRX tolerates activity-dependent histone H3 methyl/phos switching to maintain repetitive element silencing in neurons Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin looping The role of genetics in the establishment and maintenance of the epigenome.α-Thalassemia, mental retardation, and myelodysplastic syndrome.Nucleosome-depleted chromatin gaps recruit assembly factors for the H3.3 histone variant.Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress.Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons.The Drosophila DAXX-Like Protein (DLP) Cooperates with ASF1 for H3.3 Deposition and Heterochromatin Formation.Retinal interneuron survival requires non-cell-autonomous Atrx activity.Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.ATRX in chromatin assembly and genome architecture during development and disease.Patient mutations alter ATRX targeting to PML nuclear bodies.Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

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P2860

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

http://www.wikidata.org/entity/Q35559646

description

2000 nî lūn-bûn

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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2000年论文

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2000年论文

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name

ATR-X mutations cause impaired ...... rties of the XNP/ATR-X protein

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ATR-X mutations cause impaired ...... rties of the XNP/ATR-X protein

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ATR-X mutations cause impaired ...... rties of the XNP/ATR-X protein

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ATR-X mutations cause impaired ...... rties of the XNP/ATR-X protein

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ATR-X mutations cause impaired ...... rties of the XNP/ATR-X protein

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ATR-X mutations cause impaired ...... rties of the XNP/ATR-X protein

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P1433

Journal of Medical Genetics

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ATR-X mutations cause impaired ...... rties of the XNP/ATR-X protein

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P2093

C Cardoso

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C Mignon

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L Colleaux

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M G Mattei

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Y Lutz

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P2860

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

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association

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

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

DNA-binding and chromatin localization properties of CHD1

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

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

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

XNP mutation in a large family with Juberg-Marsidi syndrome

P304

746-751

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10.1136/JMG.37.10.746

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10

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37

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Danielle Depetris

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12309171

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11015451

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1757148

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