Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Nature Genetics

Volumn 41, Issue 9, 2009, Pages 1032-1036

  Bielas, Stephanie L ^a   Silhavy, Jennifer L ^a   Brancati, Francesco ^b,c   Kisseleva, Marina V ^d   Al Gazali, Lihadh ^e   Sztriha, Laszlo ^f   Bayoumi, Riad A ^g   Zaki, Maha S ^h   Abdel Aleem, Alice ^h   Rosti, Rasim Ozgur ⁱ   Kayserili, Hulya ⁱ   Swistun, Dominika ^a   Scott, Lesley C ^a   Bertini, Enrico ^j   Boltshauser, Eugen ^k   Fazzi, Elisa ^l   Travaglini, Lorena ^b   Field, Seth J ^m   Gayral, Stephanie ⁿ   Jacoby, Monique ⁿ   Schurmans, Stephane ⁿ   Dallapiccola, Bruno ^b,o   Majerus, Philip W ^d   Valente, Enza Maria ^b,p   Gleeson, Joseph G ^a   more..

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^f UNIVERSITY OF SZEGED   (Hungary)

^g SULTAN QABOOS UNIVERSITY   (Oman)

^h NATIONAL RESEARCH CENTRE   (Egypt)

ⁱ ISTANBUL UNIVERSITY   (Turkey)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^k UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^l C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^m UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

ⁿ UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^o SAPIENZA UNIVERSITY OF ROME   (Italy)

^p UNIVERSITY OF MESSINA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INOSITOL POLYPHOSPHATE 5 PHOSPHATASE E; PHOSPHATIDYLINOSITOL; SYNAPTOJANIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MALFORMATION; CONTROLLED STUDY; ENZYME ACTIVITY; EUKARYOTIC FLAGELLUM; GENE; GENE MUTATION; HUMAN; HYDROLYSIS; INPP5E GENE; JBTS1 GENE; JOUBERT SYNDROME; LIVER FIBROSIS; MESENCEPHALON; NEPHRONOPHTHISIS; NERVE FUNCTION; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN DOMAIN; REGULATORY MECHANISM; RETINA DYSTROPHY; RHOMBENCEPHALON; SIGNAL TRANSDUCTION;

EID: 69349094765     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.423     Document Type: Article

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