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Details on Person Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
| Class:Id | LiteratureReference:1675802 |
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| _displayName | Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies |
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| _timestamp | 2017-12-20 22:51:54 |
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| author | [Person:1676118] Bielas, SL
[Person:1675909] Silhavy, JL
[Person:508082] Brancati, Francesco
[Person:1676099] Kisseleva, MV
[Person:508046] Al-Gazali, Lihadh
[Person:1676061] Sztriha, L
[Person:1676040] Bayoumi, RA
[Person:1675832] Zaki, MS
[Person:5624577] Abdel-Aleem, Alice
[Person:1675930] Rosti, RO
[Person:508030] Kayserili, Hulya
[Person:1675765] Swistun, D
[Person:1676096] Scott, LC
[Person:1676055] Bertini, E
[Person:1675779] Boltshauser, E
[Person:1676043] Fazzi, E
[Person:1675841] Travaglini, L
[Person:1676189] Field, SJ
[Person:1676129] Gayral, S
[Person:1675767] Jacoby, M
[Person:1297327] Schurmans, S
[Person:444341] Dallapiccola, B
[Person:1425982] Majerus, PW
[Person:1676039] Valente, EM
[Person:1676148] Gleeson, JG |
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| created | [InstanceEdit:1676083] Williams, MG, 2011-10-17 |
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| journal | Nat Genet |
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| modified | [InstanceEdit:9033389] D'Eustachio, Peter, 2017-12-20 |
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| pages | 1032-6 |
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| pubMedIdentifier | 19668216 |
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| title | Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies |
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| volume | 41 |
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| year | 2009 |
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| (literatureReference) | [Reaction:1675824] PI(4,5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membrane [Homo sapiens]
[BlackBoxEvent:5624954] INPP5E translocates to the primary cilium [Homo sapiens]
[Reaction:5624956] PDE6D binds INPP5E [Homo sapiens]
[Pathway:5624958] ARL13B-mediated ciliary trafficking of INPP5E [Homo sapiens] |
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