A unifying genetic model for facioscapulohumeral muscular dystrophy

Science

Volumn 329, Issue 5999, 2010, Pages 1650-1653

  Lemmers, Richard J L F ^a   Van Der Vliet, Patrick J ^a   Klooster, Rinse ^a   Sacconi, Sabrina ^b   Camaño, Pilar ^c,d   Dauwerse, Johannes G ^a   Snider, Lauren ^e   Straasheijm, Kirsten R ^a   Van Ommen, Gert Jan ^a   Padberg, George W ^f   Miller, Daniel G ^g   Tapscott, Stephen J ^e   Tawil, Rabi ^h   Frants, Rune R ^a   Van Der Maarel, Silvère M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

^c BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e Fred Hutchinson Cancer Research Center   (United States)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CHROMOSOME; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC MARKER; MUSCLE; POLYMORPHISM;

ARTICLE; CHROMOSOME; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE EXPRESSION; GENE FUNCTION; GENE SEQUENCE; GENETIC MODEL; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HOMEOBOX; HUMAN; POLYADENYLATION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; AGED; BIOLOGICAL MODEL; CHROMOSOME 10; CHROMOSOME 4; FEMALE; GENETICS; HAPLOTYPE; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PRESCHOOL CHILD; RNA STABILITY; YOUNG ADULT;

DUX4 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; MESSENGER RNA;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; POLYADENYLATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA STABILITY; RNA, MESSENGER; TRANSCRIPTION, GENETIC; TRANSFECTION; YOUNG ADULT;

EID: 77957327192     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1189044     Document Type: Article

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24. We thank all patients and family members for their participation. This study was supported by the Fields Center for FSHD and Neuromuscular Research, the Netherlands Organization for Scientific Research NWO 917.56.338, a Breakthrough Project Grant by the Netherlands Genomics Initiative NWO 93.51.8001, the National Institutes of Health P01NS069539, the Muscular Dystrophy Association, the Shaw Family Foundation, a Marjorie Bronfman Fellowship grant from the FSH Society, the Dutch FSHD Foundation, the Pacific Northwest Friends of FSH Research, Centro Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), the Basque Government (Fellowship grant, 2008111011), and Instituto Carlos III, ILUNDAIN Fundazioa.