Smith-Magenis syndrome: Haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways

Expert Reviews in Molecular Medicine

Volumn 13, Issue , 2011, Pages

  Elsea, Sarah H ^a   Williams, Stephen R ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; CELL NUCLEUS RECEPTOR; CRYPTOCHROME 1; CRYPTOCHROME 2; NEUROTRANSMITTER; NUCLEAR RECEPTOR NR1D2; PER1 PROTEIN; PER2 PROTEIN; RETINOIC ACID INDUCIBLE PROTEIN I; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CLOCK; UNCLASSIFIED DRUG; RAI1 PROTEIN, HUMAN;

ARTICLE; AUTOMUTILATION; BONE MALFORMATION; CHROMOSOME 11Q; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CIRCADIAN RHYTHM; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; GENE; GENE CONTROL; GENE DOSAGE; GENE FUNCTION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; LIPID METABOLISM; MALFORMATION SYNDROME; NEUROTRANSMITTER RELEASE; NONHUMAN; OBESITY; PHENOTYPE; POTOCKI LUPSKI SYNDROME; PRIORITY JOURNAL; RAI1 GENE; SLEEP DISORDER; SMITH MAGENIS SYNDROME; GENETICS; METABOLISM; PHYSIOLOGY; REVIEW;

HAPLOINSUFFICIENCY; HUMANS; METABOLIC NETWORKS AND PATHWAYS; SMITH-MAGENIS SYNDROME; TRANSCRIPTION FACTORS;

EID: 79956061548     PISSN: 14623994     EISSN: 14623994     Source Type: Journal    
DOI: 10.1017/S1462399411001827     Document Type: Article

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