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
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Language
English
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Publisher
Nature Publishing Group
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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
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Primary Identifiers
Record Identifier
TN_cdi_gale_infotracacademiconefile_A207705544
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracacademiconefile_A207705544
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ISSN
1061-4036