Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

American Journal of Human Genetics

Volumn 99, Issue 2, 2016, Pages 470-480

  Coppieters, Frauke ^a,b   Ascari, Giulia ^a   Dannhausen, Katharina ^c   Nikopoulos, Konstantinos ^d   Peelman, Frank ^e   Karlstetter, Marcus ^c,f   Xu, Mingchu ^g   Brachet, Cécile ^h   Meunier, Isabelle ^i,j,k   Tsilimbaris, Miltiadis K ^l   Tsika, Chrysanthi ^l   Blazaki, Styliani V ^l   Vergult, Sarah ^a   Farinelli, Pietro ^d   Van Laethem, Thalia ^a   Bauwens, Miriam ^a   De Bruyne, Marieke ^a   Chen, Rui ^g   Langmann, Thomas ^c   Sui, Ruifang ^m   Meire, Françoise ^h   Rivolta, Carlo ^d   Hamel, Christian P ^i,j,k   Leroy, Bart P ^a,n   De Baere, Elfride ^a   more..

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b Pxlence   (Belgium)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e GHENT UNIVERSITY   (Belgium)

^f BAYER PHARMA AG   (Germany)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

ⁱ MONTPELLIER UNIVERSITY HOSPITAL   (France)

^j UNIV MONTPELLIER   (France)

^k INSERM   (France)

^l UNIVERSITY OF CRETE   (Greece)

^m PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

ⁿ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; BIOLOGICAL MARKER; CULLIN 3; MESSENGER RNA; RCBTB1 PROTEIN; TRANSCRIPTION FACTOR NRF2; UNCLASSIFIED DRUG; CUL3 PROTEIN, HUMAN; CULLIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; NFE2L2 PROTEIN, HUMAN; RCBTB1 PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GOITER; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MOUSE; NONHUMAN; ONSET AGE; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; UBIQUITINATION; ADOLESCENT; ADULT; ALLELE; CASE REPORT; CHILD; CONSANGUINITY; EXOME; FEMALE; FOUNDER EFFECT; GENETICS; HAPLOTYPE; LYMPHOCYTE; MALE; METABOLISM; PEDIGREE; RECESSIVE GENE; RETINA; SYNDROME; TURKEY;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; CHILD; CONSANGUINITY; CULLIN PROTEINS; EXOME; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HAPLOTYPES; HOMOZYGOTE; HUMANS; LYMPHOCYTES; MALE; MUTATION, MISSENSE; NF-E2-RELATED FACTOR 2; PEDIGREE; PHENOTYPE; RETINA; RETINAL DYSTROPHIES; RNA, MESSENGER; SYNDROME; TURKEY; UBIQUITINATION;

EID: 84994074762     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.017     Document Type: Article

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