Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

Human Mutation

Volumn 30, Issue 3, 2009, Pages 342-351

  Escher, Pascal ^a,b   Gouras, Peter ^c   Roduit, Raphaël ^a,b   Tiab, Leila ^a,b   Bolay, Sylvain ^a,b   Delarive, Tania ^a,b,d   Chen, Shiming ^e   Tsai, Chih Cheng ^f   Hayashi, Masanori ^c   Zernant, Jana ^c   Merriam, Joanna E ^c   Mermod, Nicolas ^g   Allikmets, Rando ^c   Munier, Francis L ^b,d   Schorderet, Daniel F ^a,b,g  

^a Institut de Recherche en Ophtalmologie   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c Howard Hughes Medical Institute   (United States)

^d HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^g EPFL   (Switzerland)

Author keywords

Cofactor assembly; Corepressor binding; NR2E3; Photoreceptor specific nuclear receptor; PNR; Retinal degeneration; Transcriptional regulation

Indexed keywords

CELL NUCLEUS RECEPTOR; MUTANT PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DOMINANT GENE; EYE DOMINANCE; GENE MUTATION; HETEROZYGOTE; HUMAN; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN BINDING; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 61649107865     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20858     Document Type: Article

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