Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

eLife

Volumn 4, Issue MAY, 2015, Pages 1-37

  Roosing, Susanne ^a   Hofree, Matan ^b   Kim, Sehyun ^a,c   Scott, Eric ^a   Copeland, Brett ^a   Romani, Marta ^d   Silhavy, Jennifer L ^a   Rosti, Rasim O ^a   Schroth, Jana ^a   Mazza, Tommaso ^d   Miccinilli, Elide ^d   Zaki, Maha S ^e   Swoboda, Kathryn J ^f   Milisa Drautz, Joanne ^g   Dobyns, William B ^h   Mikati, Mohamed ⁱ   İncecik, Faruk ^j   Azam, Matloob ^k   Borgatti, Renato ^l   Romaniello, Romina ^l   Boustany, Rose Mary ^m   Clericuzio, Carol L ⁿ   D'Arrigo, Stefano ^o   Strømme, Petter ^p   Boltshauser, Eugen ^q   Stanzial, Franco ^r   Mirabelli Badenier, Marisol ^s   Moroni, Isabella ^o   Bertini, Enrico ^t   Emma, Francesco ^t   Steinlin, Maja ^u   Hildebrandt, Friedhelm ^v   Johnson, Colin A ^w   Freilinger, Michael ^x   Vaux, Keith K ^a   Gabriel, Stacey B ^y   Aza Blac, Pedro ^z   Heynen, Susanne Genel ^z   Ideker, Trey ^c   Dynlacht, Brian D ^c   Lee, Ji Eun ^aa   Valente, Enza Maria ^d,ab   Kim, Joon ^ac   Gleeson, Joseph G ^a   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e NATIONAL RESEARCH CENTRE   (Egypt)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF NEW MEXICO   (United States)

^h SEATTLE CHILDREN S HOSPITAL   (United States)

ⁱ DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j Department of Pediatric Neurology ^*  (Turkey)

^k National University of Medical Sciences   (Pakistan)

^l SCIENTIFIC INSTITUTE   (Italy)

^m AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

ⁿ UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^o DEPARTMENT OF NEUROSURGERY   (Italy)

^p OSLO UNIVERSITY HOSPITAL   (Norway)

^q UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^r CENTRAL HOSPITAL OF BOLZANO   (Italy)

^s G GASLINI INSTITUTE   (Italy)

^t BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^u UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^v HARVARD MEDICAL SCHOOL   (United States)

^w ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^x UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^y MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^z BURNHAM INSTITUTE   (United States)

^aa Sungkyunkwan University   (South Korea)

^ab UNIVERSITY OF SALERNO   (Italy)

^ac Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

more..

Author keywords

Ciliopathy; High content screen; Joubert syndrome; KIAA0586; SiRNA; Talpid3

Indexed keywords

SMALL INTERFERING RNA; CELL CYCLE PROTEIN; MUTANT PROTEIN; TALPID3 PROTEIN, HUMAN;

ARTICLE; BIOGENESIS; CELL FUNCTION; CENTRIOLE; CILIOGENESIS; CILIOPATHY; CYTOMETRY; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HUMAN CELL; IMAGE ANALYSIS; JOUBERT SYNDROME; MOLECULAR GENETICS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCORING SYSTEM; TALPID3; VALIDATION PROCESS; WESTERN BLOTTING; ABNORMALITIES; CEREBELLUM; EYE MALFORMATION; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; KIDNEY POLYCYSTIC DISEASE; MULTIPLE MALFORMATION SYNDROME; RETINA;

ERINACEIDAE;

ABNORMALITIES, MULTIPLE; CELL CYCLE PROTEINS; CEREBELLUM; EYE ABNORMALITIES; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; HUMANS; KIDNEY DISEASES, CYSTIC; MUTANT PROTEINS; RETINA; RNA, SMALL INTERFERING;

EID: 84930622375     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.06602     Document Type: Article

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