Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol sign...
Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
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Author / Creator
Bielas, Stephanie L , Silhavy, Jennifer L , Brancati, Francesco , Kisseleva, Marina V , Al-Gazali, Lihadh , Sztriha, Laszlo , Bayoumi, Riad A , Zaki, Maha S , Abdel-Aleem, Alice , Rosti, Rasim Ozgur , Kayserili, Hulya , Swistun, Dominika , Scott, Lesley C , Bertini, Enrico , Boltshauser, Eugen , Fazzi, Elisa , Travaglini, Lorena , Field, Seth J , Gayral, Stephanie , Jacoby, Monique , Schurmans, Stephane , Dallapiccola, Bruno , Majerus, Philip W , Valente, Enza Maria and Gleeson, Joseph G
Publisher
Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
Nature Publishing Group
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More information
Scope and Contents
Contents
Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events (1). Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated retinal dystrophy, nep...
Alternative Titles
Full title
Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Authors, Artists and Contributors
Author / Creator
Silhavy, Jennifer L
Brancati, Francesco
Kisseleva, Marina V
Al-Gazali, Lihadh
Sztriha, Laszlo
Bayoumi, Riad A
Zaki, Maha S
Abdel-Aleem, Alice
Rosti, Rasim Ozgur
Kayserili, Hulya
Swistun, Dominika
Scott, Lesley C
Bertini, Enrico
Boltshauser, Eugen
Fazzi, Elisa
Travaglini, Lorena
Field, Seth J
Gayral, Stephanie
Jacoby, Monique
Schurmans, Stephane
Dallapiccola, Bruno
Majerus, Philip W
Valente, Enza Maria
Gleeson, Joseph G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracacademiconefile_A207705544
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracacademiconefile_A207705544
Other Identifiers
ISSN
1061-4036
