Rett syndrome - Biological pathways leading from MECP2 to disorder phenotypes

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Ehrhart, Friederike ^a,b   Coort, Susan L M ^b   Cirillo, Elisa ^b   Smeets, Eric ^a   Evelo, Chris T ^a,b   Curfs, Leopold M G ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Bioinformatics; Data integration; DNA methylation; Epigenetics; MECP2; Rett syndrome; Systems biology

Indexed keywords

4 AMINOBUTYRIC ACID; BRAIN DERIVED NEUROTROPHIC FACTOR; DOPAMINE; FK 506 BINDING PROTEIN; GLUTAMATE D1 RECEPTOR; GLUTAMATE RECEPTOR 1; GLUTAMIC ACID; GUANIDINOACETATE METHYLTRANSFERASE; INOSITOL; MELATONIN; METHYL CPG BINDING PROTEIN 2; MICRORNA; NORADRENALIN; SEROTONIN; SERUM AND GLUCOCORTICOID REGULATED KINASE 1; SOMATOMEDIN B; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR DLX6; TUBULIN; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3 ALPHA; UNCLASSIFIED DRUG;

BINDING SITE; CELL PROLIFERATION; CHROMATIN STRUCTURE; CPG ISLAND; DOWN REGULATION; EPIGENETICS; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE MUTATION; GENE PRODUCT; GENETIC TRANSCRIPTION; HUMAN; MECP2 GENE; NERVE CELL DIFFERENTIATION; NONHUMAN; PHENOTYPE; PROMOTER REGION; PROTEIN DNA BINDING; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; RETT SYNDROME; REVIEW; RNA BINDING; SIGNAL TRANSDUCTION; UPREGULATION; X CHROMOSOME; ANIMAL; BIOLOGY; DISEASE MODEL; DNA METHYLATION; GENETICS; METABOLISM; PATHOLOGY; SYSTEMS BIOLOGY;

ANIMALS; COMPUTATIONAL BIOLOGY; DISEASE MODELS, ANIMAL; DNA METHYLATION; EPIGENOMICS; HUMANS; METHYL-CPG-BINDING PROTEIN 2; RETT SYNDROME; SYSTEMS BIOLOGY;

EID: 84996922136     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0545-5     Document Type: Review

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