Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)

European Journal of Human Genetics

Volumn 10, Issue 4, 2002, Pages 223-225

  Villard, Laurent ^a   Fontes, Michel ^a  

^a TIMONE HOSPITAL   (France)

Author keywords

ATR X; Chromatin structure; Mental retardation; XNP

Indexed keywords

ADENOSINE TRIPHOSPHATE; GENOMIC DNA; HELICASE; NONHISTONE PROTEIN; NUCLEAR PROTEIN; PROTEIN ATR X; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ALPHA THALASSEMIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 16; CHROMOSOME XQ; CLINICAL FEATURE; COFFIN LOWRY SYNDROME; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DNA BINDING; ELECTROPHORESIS; FACE DEFORMITY; FREQUENCY ANALYSIS; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HEMOGLOBIN ANALYSIS; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOUSE; NEWBORN; NONHUMAN; NONSENSE MUTATION; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN METHYLATION; PROTEIN PROTEIN INTERACTION; SEQUENCE HOMOLOGY; X CHROMOSOME LINKAGE;

ANIMALIA;

ALPHA-THALASSEMIA; ANIMALS; DISEASE MODELS, ANIMAL; DNA HELICASES; DNA-BINDING PROTEINS; HUMANS; LINKAGE (GENETICS); MENTAL RETARDATION; MICE; MICE, TRANSGENIC; NUCLEAR PROTEINS; SYNDROME; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0036078163     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200800     Document Type: Article

References (10)

1. Clinical and hematologic aspects of the X-linked a-thalassemia/mental retardation syndrome (ATR-X)
2. A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy
3. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
4. Determination of the genomic structure of the XNP/ATR-X gene, encoding a potential zinc-finger helicase
5. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
6. Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association
7. A possible involvment of TIF1a and TIF1b in the epigenetic control of transcription by nuclear receptors
8. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
9. ATR-X mutations cause impaired nuclear location and altered DNA-binding properties of the XNP/ATR-X protein
10. Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice