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Alpha thalassaemia-mental retardation, X linked

Alpha thalassaemia-mental retardation, X linked

http://www.wikidata.org/entity/Q21203051

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Genome-wide comprehensive analysis of human helicases MECP2 disorders: from the clinic to mice and back Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome α-thalassaemia Alpha-thalassemia Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Effects of aging and calorie restriction on the global gene expression profiles of mouse testis and ovary Loss of ATRX in chondrocytes has minimal effects on skeletal development Protein complex of Drosophila ATRX/XNP and HP1a is required for the formation of pericentric beta-heterochromatin in vivo ATRX has a critical and conserved role in mammalian sexual differentiation Ultra-High Density SNParray in Neuroblastoma Molecular Diagnostics The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea Loss of wild-type ATRX expression in somatic cell hybrids segregates with activation of Alternative Lengthening of Telomeres.Loss of Atrx sensitizes cells to DNA damaging agents through p53-mediated death pathways Epigenetic mechanisms in migraine: a promising avenue?The role of genetics in the establishment and maintenance of the epigenome.Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).Association of age at diagnosis and genetic mutations in patients with neuroblastoma.Compromised genomic integrity impedes muscle growth after Atrx inactivation.Alcohol and NMDA receptor: current research and future direction.PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis.Epigenetic regulation of gene expression in physiological and pathological brain processes.X chromosome inactivation: a silence that needs to be broken.ATRX: the case of a peculiar chromatin remodeler.Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.Autism spectrum disorders: the quest for genetic syndromes.Malformation syndromes associated with disorders of sex development.Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.Diffusely infiltrating astrocytomas: pathology, molecular mechanisms and markers.DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome.ATRX and DAXX: Mechanisms and Mutations.A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.The ATRX cDNA is prone to bacterial IS10 element insertions that alter its structure.Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.

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Alpha thalassaemia-mental retardation, X linked

http://www.wikidata.org/entity/Q21203051

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2006 nî lūn-bûn

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2006年の論文

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Alpha thalassaemia-mental retardation, X linked

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Cloning, expression and chromosome locations of the human DNMT3 gene family

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)

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

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis

A review of the molecular genetics of the human alpha-globin gene cluster

XNP mutation in a large family with Juberg-Marsidi syndrome

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