| 1 | PI4KA
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| Biallelic PI4KA variants cause neurological, intestinal and immunological disease. .
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| Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogoli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla M, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Melver CW, Cox H, Elawad M, Marton T, Wakeling M, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Vockley CW, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL.
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| Brain Aug 20:awab313. doi: 10.1093/brain/awab313. Epub ahead of print. 2021
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| 2 | NDESPLB, PI4KA
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| Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
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| Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A.
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| Brain. Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. 2021
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| 3 | PI4KA
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| Schwann-Cell-Specific Deletion of Phosphatidylinositol 4-Kinase Alpha Causes Aberrant Myelination
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| Alvarez-Prats A, Bjelobaba I, Aldworth Z, Baba T, Abebe D, Kim YJ, Stojilkovic SS, Stopfer M, Balla T.
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| Cell Rep. Jun 5;23(10):2881-2890. doi: 10.1016/j.celrep.2018.05.019. 2018
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| 4 | NDESPLB, PI4KA
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| Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
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| Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U.
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| Hum Mol Genet. Jul 1;24(13):3732-41. doi: 10.1093/hmg/ddv117. Epub 2015 Apr 8. 2015
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| 5 | PI4KA
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| Pharmacological and genetic targeting of the PI4KA enzyme reveals its important role in maintaining plasma membrane phosphatidylinositol 4-phosphate and phosphatidylinositol 4,5-bisphosphate levels
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| Bojjireddy N, Botyanszki J, Hammond G, Creech D, Peterson R, Kemp DC, Snead M, Brown R, Morrison A, Wilson S, Harrison S, Moore C, Balla T.
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| J Biol Chem. Feb 28;289(9):6120-32. doi: 10.1074/jbc.M113.531426. Epub 2014 Jan 10. 2014
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| 6 | PI4KA
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| Association study between the PIK4CA gene and methamphetamine use disorder in a Japanese population.
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| Kanahara N, Miyatake R, Sekine Y, Inada T, Ozaki N, Iwata N, Harano M, Komiyama T, Yamada M, Sora I, Ujike H, Iyo M, Hashimoto K.
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| Am J Med Genet B Neuropsychiatr Genet 150B(2):233-8. 2009
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| 7 | DEL22Q11, PI4KA, SCZD4
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| Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome.
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| Vorstman JA, Chow EW, Ophoff RA, van Engeland H, Beemer FA, Kahn RS, Sinke RJ, Bassett AS.
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| Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2008 Jul 21. [Epub ahead of print] 2008
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| 8 | DEL22Q11, PI4KA, SCZD4
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| An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia.
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| Jungerius BJ, Hoogendoorn ML, Bakker SC, Van't Slot R, Bardoel AF, Ophoff RA, Wijmenga C, Kahn RS, Sinke RJ.
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| Mol Psychiatry 13(11):1060-8. Epub 2007 Sep 25. 2008
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| 9 | PI4KA
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| Nuclear and nucleolar localization signals and their targeting function in phosphatidylinositol 4-kinase PI4K230.
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| Kakuk A, Friedländer E, Vereb G Jr, Lisboa D, Bagossi P, Tóth G, Gergely P, Vereb G.
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| Exp Cell Res 314(13):2376-88. Epub 2008 May 27. 2008
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| 10 | PI4KA
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| Nucleolar localization of phosphatidylinositol 4-kinase PI4K230 in various mammalian cells.
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| Kakuk A, Friedländer E, Vereb G Jr, Kása A, Balla A, Balla T, Heilmeyer LM Jr, Gergely P, Vereb G.
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| Cytometry A 69(12):1174-83. 2006
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| 11 | PI4KA
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| Cloning, expression, and localization of 230-kDa phosphatidylinositol 4-kinase.
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| Nakagawa T, Goto K, Kondo H.
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| J Biol Chem 271(20):12088-94. 1996
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| 12 | PI4KA
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| Cloning and characterization of a human phosphatidylinositol 4-kinase.
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| Wong K, Cantley LC.
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| J Biol Chem 269(46):28878-84. 1994
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