Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

American Journal of Human Genetics

Volumn 98, Issue 5, 2016, Pages 1020-1029

  Van Den Boogaard, Marlinde L ^a   Lemmers, Richard J L F ^a   Balog, Judit ^a   Wohlgemuth, Mariëlle ^b   Auranen, Mari ^c   Mitsuhashi, Satomi ^d   Van Der Vliet, Patrick J ^a   Straasheijm, Kirsten R ^a   Van Den Akker, Rob F P ^a   Kriek, Marjolein ^a   Laurense Bik, Marlies E Y ^a   Raz, Vered ^a   Van Ostaijen Ten Dam, Monique M ^a   Hansson, Kerstin B M ^a   Van Der Kooi, Elly L ^e   Kiuru Enari, Sari ^c   Udd, Bjarne ^f   Van Tol, Maarten J D ^a   Nishino, Ichizo ^d   Tawil, Rabi ^g   Tapscott, Stephen J ^h   Van Engelen, Baziel G M ^b   Van Der Maarel, Silvère M ^a   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF HELSINKI   (Finland)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e MEDICAL CENTER LEEUWARDEN   (Netherlands)

^f TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^g UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^h USA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

D4Z4 PROTEIN; DNA METHYLTRANSFERASE 3B; DUX4 PROTEIN; PROTEIN; SMCHD1 PROTEIN; UNCLASSIFIED DRUG; CHROMATIN; DNA (CYTOSINE 5) METHYLTRANSFERASE;

ALLELE; ARTICLE; CELL DIFFERENTIATION; CELL TRANSDIFFERENTIATION; CHROMATIN; CHROMOSOME 4; CPG ISLAND; DISEASE SEVERITY; DNA METHYLATION; EPIGENETIC DEREPRESSION; EPIGENETIC REPRESSION; EXOME; FACE MALFORMATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FIBROBLAST; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC REGULATION; GENETIC VARIABILITY; HUMAN; IMMUNE DEFICIENCY; IMMUNOFLUORESCENCE TEST; MYOTUBE; PENETRANCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; SOMATIC CELL; SOUTHERN BLOTTING; ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CHEMISTRY; CHILD; FEMALE; GENETICS; INFANT; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PRESCHOOL CHILD; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY; TANDEM REPEAT;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMATIN; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; EPIGENETIC REPRESSION; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION; PEDIGREE; PENETRANCE; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, AMINO ACID; TANDEM REPEAT SEQUENCES;

EID: 84968791300     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.03.013     Document Type: Article

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