MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Journal of Medical Genetics

Volumn 53, Issue 1, 2016, Pages 62-72

  Slaats, Gisela G ^a   Isabella, Christine R ^b   Kroes, Hester Y ^a   Dempsey, Jennifer C ^b   Gremmels, Hendrik ^a   Monroe, Glen R ^a   Phelps, Ian G ^b   Duran, Karen J ^a   Adkins, Jonathan ^b,c   Kumar, Sairam A ^b   Knutzen, Dana M ^b   Knoers, Nine V ^a   Mendelsohn, Nancy J ^d   Neubauer, David ^e   Mastroyianni, Sotiria D ^f   Vogt, Julie ^g   Worgan, Lisa ^h   Karp, Natalya ⁱ   Bowdin, Sarah ^j   Glass, Ian A ^b   Parisi, Melissa A ^k   Otto, Edgar A ^l   Johnson, Colin A ^m   Hildebrandt, Friedhelm ^n,o   van Haaften, Gijs ^a   Giles, Rachel H ^a   Doherty, Dan ^b,p   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

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

^c TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^d CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^e UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^f Cardiology Department   (Greece)

^g BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^h LIVERPOOL HOSPITAL   (Australia)

ⁱ UNIVERSITY OF WESTERN ONTARIO   (Canada)

^j HOSPITAL FOR SICK CHILDREN   (Canada)

^k EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^l UNIVERSITY OF MICHIGAN   (United States)

^m UNIVERSITY OF LEEDS   (United Kingdom)

ⁿ BOSTON CHILDREN S HOSPITAL   (United States)

^o HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^p SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INOSITOL POLYPHOSPHATE 5 PHOSPHATASE E; MECKEL SYNDROME 1 PROTEIN; PROTEIN; SYNAPTOJANIN; UNCLASSIFIED DRUG; ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR; ARL13B PROTEIN, HUMAN; MKS1 PROTEIN, HUMAN; PHOSPHATASE; PHOSPHOINOSITIDE 5-PHOSPHATASE; PROTEIN BINDING;

ALLELE; ANIMAL CELL; ARTICLE; ASSAY; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; EUKARYOTIC FLAGELLUM; FIBROBLAST; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; JOUBERT SYNDROME; MAJOR CLINICAL STUDY; MECKEL SYNDROME; MOUSE; MUTAGENESIS; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONTENT; SPHEROID RESCUE ASSAY; ABNORMALITIES; ABNORMALITIES, MULTIPLE; ANIMAL; BIOLOGICAL MODEL; BRAIN; CELL CULTURE; CEREBELLUM; EXON; EYE ABNORMALITIES; GENE EXPRESSION REGULATION; GENETICS; KIDNEY DISEASES, CYSTIC; METABOLISM; MUTATION; PATHOLOGY; PROTEIN TRANSPORT; RETINA; X-RAY COMPUTED TOMOGRAPHY;

ABNORMALITIES, MULTIPLE; ADP-RIBOSYLATION FACTORS; ANIMALS; BRAIN; CELLS, CULTURED; CEREBELLUM; CILIA; EXONS; EYE ABNORMALITIES; FIBROBLASTS; GENE EXPRESSION REGULATION; HUMANS; KIDNEY DISEASES, CYSTIC; MAGNETIC RESONANCE IMAGING; MICE; MODELS, BIOLOGICAL; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN BINDING; PROTEIN TRANSPORT; PROTEINS; RETINA; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84958998805     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103250     Document Type: Article

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