Disruption of long-range gene regulation in human genetic disease: A kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences

Human Genetics

Volumn 133, Issue 7, 2014, Pages 815-845

  Bhatia, Shipra ^a   Kleinjan, Dirk A ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN ALPHA CHAIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX9;

BRAIN MALFORMATION; CHROMOSOME TRANSLOCATION; ENDOPHENOTYPE; EYE COLOR; GENE CONTROL; GENE EXPRESSION; GENE LOCUS; GENE REGULATORY NETWORK; GENETIC DISORDER; GENETIC PREDISPOSITION; GENOME; GENOME ANALYSIS; GENOTYPE; HUMAN; LIMB DEFORMITY; NONHUMAN; NUCLEOSOME; PHENOTYPE; PIERRE ROBIN SYNDROME; POINT MUTATION; PRIORITY JOURNAL; REGULATOR GENE; REVIEW;

ANIMALS; GENE DELETION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; MICE; MODELS, GENETIC; MULTIGENE FAMILY; NEOPLASMS; PHENOTYPE; POLYMORPHISM, GENETIC; REGULATORY SEQUENCES, NUCLEIC ACID; TRANSCRIPTION, GENETIC;

EID: 84904089628     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1424-6     Document Type: Review

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