Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Nature Genetics

Volumn 42, Issue 10, 2010, Pages 840-850

  Otto, Edgar A ^a   Hurd, Toby W ^a   Airik, Rannar ^a   Chaki, Moumita ^a   Zhou, Weibin ^a   Stoetzel, Corinne ^b   Patil, Suresh B ^c   Levy, Shawn ^d   Ghosh, Amiya K ^a   Murga Zamalloa, Carlos A ^c   Van Reeuwijk, Jeroen ^e   Letteboer, Stef J F ^e   Sang, Liyun ^f   Giles, Rachel H ^g   Liu, Qin ^h   Coene, Karlien L M ^e   Estrada Cuzcano, Alejandro ^e   Collin, Rob W J ^e   McLaughlin, Heather M ^a,c   Held, Susanne ^a   Kasanuki, Jennifer M ^a   Ramaswami, Gokul ^a   Conte, Jinny ⁱ   Lopez, Irma ⁱ   Washburn, Joseph ^j   MacDonald, James ^a   Hu, Jinghua ^k   Yamashita, Yukiko ^a   Maher, Eamonn R ^l   Guay Woodford, Lisa M ^m   Neumann, Hartmut P H ⁿ   Obermüller, Nicholas ^o   Koenekoop, Robert K ⁱ   Bergmann, Carsten ^p   Bei, Xiaoshu ^q   Lewis, Richard A ^r   Katsanis, Nicholas ^q   Lopes, Vanda ^s   Williams, David S ^s   Lyons, Robert H ^c   Dang, Chi V ^t   Brito, Daniela A ^u   Dias, M'nica Bettencourt ^u   Zhang, Xinmin ^v   Cavalcoli, James D ^a   Nürnberg, Gudrun ^w,x   Nürnberg, Peter ^w,x   Pierce, Eric A ^h   Jackson, Peter K ^f   Antignac, Corinne ^y,z   Saunier, Sophie ^y   Roepman, Ronald ^e,aa   Dollfus, Helene ^b,ab   Khanna, Hemant ^b   Hildebrandt, Friedhelm ^a,c,ac   more..

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f GENENTECH INC   (United States)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

ⁱ MONTREAL CHILDREN S HOSPITAL   (Canada)

^j UNIVERSITY OF MICHIGAN COMPREHENSIVE CANCER CENTER   (United States)

^k MAYO GRADUATE SCHOOL   (United States)

^l UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^m UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

ⁿ UNIVERSITY OF FREIBURG   (Germany)

^o UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^p RWTH AACHEN UNIVERSITY   (Germany)

^q DUKE UNIVERSITY MEDICAL CENTER   (United States)

^r BAYLOR COLLEGE OF MEDICINE   (United States)

^s JULES STEIN EYE INSTITUTE   (United States)

^t JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^u INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^v Roche NimbleGen Inc   (United States)

^w UNIVERSITY OF COLOGNE   (Germany)

^x UNIVERSITY OF COLOGNE   (Germany)

^y HÔPITAL NECKER ENFANTS MALADES   (France)

^z INSERM   (France)

^aa RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^ab UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^ac HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

8 BROMO CYCLIC AMP; CYTOPLASM PROTEIN; FORSKOLIN; ISOBUTYLMETHYLXANTHINE; OCTREOTIDE; ORAL FACIAL DIGITAL SYNDROME 1 PROTEIN; SEROLOGICAL DEFINED COLON CANCER ANTIGEN 8; TOLVAPTAN; TUMOR ANTIGEN; UNCLASSIFIED DRUG; AUTOANTIGEN; CYCLIC AMP; MESSENGER RNA; OFD1 PROTEIN, HUMAN; PROTEIN; SDCCAG8 PROTEIN, HUMAN; SMALL INTERFERING RNA; TUMOR PROTEIN;

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BARDET BIEDL SYNDROME; CELL CULTURE; CELL POLARITY; CENTRIOLE; CHILD; CILIOPATHY CANDIDATE EXOME CAPTURE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; KIDNEY CELL; KIDNEY CYST; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; MOUSE; NEPHRONOPHTHISIS; NEWBORN; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RAT; RETINA DEGENERATION; RETINAL RENAL CILIOPATHY; SCHOOL CHILD; ZEBRA FISH; ANIMAL; ANTAGONISTS AND INHIBITORS; CASE CONTROL STUDY; CELL FRACTIONATION; CENTROSOME; COMPARATIVE STUDY; FAMILY; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; HOMOZYGOTE; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PHOTORECEPTOR CELL; RETINA DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TWO HYBRID SYSTEM; ULTRASTRUCTURE; WESTERN BLOTTING;

ANIMALS; AUTOANTIGENS; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CENTROSOME; CYCLIC AMP; EXONS; FAMILY; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; KIDNEY DISEASES; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PHOTORECEPTOR CELLS, VERTEBRATE; PROTEINS; RATS; RETINAL DISEASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA, SMALL INTERFERING; SUBCELLULAR FRACTIONS; TWO-HYBRID SYSTEM TECHNIQUES; ZEBRAFISH;

DANIO RERIO;

EID: 77957557692     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.662     Document Type: Article

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