Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Human Molecular Genetics

Volumn 21, Issue 11, 2012, Pages 2572-2587

  Baradaran Heravi, Alireza ^a   Cho, Kyoung Sang ^c,d   Tolhuis, Bas ^e   Sanyal, Mrinmoy ^f   Morozova, Olena ^b   Morimoto, Marie ^a   Elizondo, Leah I ^a,c   Bridgewater, Darren ^g   Lubieniecka, Joanna ^a   Beirnes, Kimberly ^a   Myung, Clara ^a   Leung, Danny ^a   Fam, Hok Khim ^a   Choi, Kunho ^a   Huang, Yan ^a   Dionis, Kira Y ^f   Zonana, Jonathan ^h,i   Keller, Kory ^h   Stenzel, Peter ^j   Mayfield, Christy ^k   Lücke, Thomas ^l   Bokenkamp, Arend ^m   Marra, Marco A ^b   Van Lohuizen, Maarten ^e   Lewis, David B ^f   Shaw, Chad ^c   Boerkoel, Cornelius F ^a   more..

^a BRITISH COLUMBIA CANCER AGENCY   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d Konkuk University   (South Korea)

^e NETHERLANDS CANCER INSTITUTE   (Netherlands)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g MCMASTER UNIVERSITY   (Canada)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^j OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^k Warren Clinic   (United States)

^l RUHR UNIVERSITY BOCHUM   (Germany)

^m VU UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; ALPHA AMANITIN; HELICASE; SMARCAL1 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHROMATIN; CONTROLLED STUDY; DYSPLASIA; ENVIRONMENTAL EXPOSURE; ENZYME DEFICIENCY; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HEAT STRESS; HEREDITY; HUMAN; HUMAN CELL; MALE; MOUSE; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PENETRANCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SMARCAL1 DEFICIENCY;

ALLELES; ANIMALS; ARTERIOSCLEROSIS; CHROMATIN; DISEASE MODELS, ANIMAL; DNA HELICASES; DROSOPHILA; EMBRYO, NONMAMMALIAN; ENVIRONMENT; GENE EXPRESSION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MICE; MUTATION; NEPHROTIC SYNDROME; OSTEOCHONDRODYSPLASIAS; PENETRANCE; PULMONARY EMBOLISM;

MUS;

EID: 84861121701     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds083     Document Type: Article

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