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PIK3C3 Gene Mutation

MedGen UID:
1738880
•Concept ID:
C5418553
•
Cell or Molecular Dysfunction
Synonyms: Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3 Gene Mutation; VPS34 Gene Mutation

Definition

A change in the nucleotide sequence of the PIK3C3 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPIK3C3 Gene Mutation

Recent clinical studies

Etiology

Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk.
Goldstein O, Gana-Weisz M, Banfi S, Nigro V, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Alcalay RN, Orr-Urtreger A
Mol Genet Metab 2023 Jun;139(2):107608. Epub 2023 May 12 doi: 10.1016/j.ymgme.2023.107608. PMID: 37201419
CAV1-CAVIN1-LC3B-mediated autophagy regulates high glucose-stimulated LDL transcytosis.
Bai X, Yang X, Jia X, Rong Y, Chen L, Zeng T, Deng X, Li W, Wu G, Wang L, Li Y, Zhang J, Xiong Z, Xiong L, Wang Y, Zhu L, Zhao Y, Jin S
Autophagy 2020 Jun;16(6):1111-1129. Epub 2019 Sep 4 doi: 10.1080/15548627.2019.1659613. PMID: 31448673Free PMC Article
Phylogenomics of phosphoinositide lipid kinases: perspectives on the evolution of second messenger signaling and drug discovery.
Brown JR, Auger KR
BMC Evol Biol 2011 Jan 5;11:4. doi: 10.1186/1471-2148-11-4. PMID: 21208444Free PMC Article
Five distinct biological processes and 14 differentially expressed genes characterize TEL/AML1-positive leukemia.
Gandemer V, Rio AG, de Tayrac M, Sibut V, Mottier S, Ly Sunnaram B, Henry C, Monnier A, Berthou C, Le Gall E, Le Treut A, Schmitt C, Le Gall JY, Mosser J, Galibert MD
BMC Genomics 2007 Oct 23;8:385. doi: 10.1186/1471-2164-8-385. PMID: 17956600Free PMC Article
Identification of PIK3C3 promoter variant associated with bipolar disorder and schizophrenia.
Stopkova P, Saito T, Papolos DF, Vevera J, Paclt I, Zukov I, Bersson YB, Margolis BA, Strous RD, Lachman HM
Biol Psychiatry 2004 May 15;55(10):981-8. doi: 10.1016/j.biopsych.2004.01.014. PMID: 15121481

Therapy

mTOR pathway gene mutations predict response to immune checkpoint inhibitors in multiple cancers.
Cheng L, Wang Y, Qiu L, Chang Y, Lu H, Liu C, Zhang B, Zhou Y, Bai H, Xiong L, Zhong H, Nie W, Han B
J Transl Med 2022 May 31;20(1):247. doi: 10.1186/s12967-022-03436-1. PMID: 35642038Free PMC Article

Prognosis

mTOR pathway gene mutations predict response to immune checkpoint inhibitors in multiple cancers.
Cheng L, Wang Y, Qiu L, Chang Y, Lu H, Liu C, Zhang B, Zhou Y, Bai H, Xiong L, Zhong H, Nie W, Han B
J Transl Med 2022 May 31;20(1):247. doi: 10.1186/s12967-022-03436-1. PMID: 35642038Free PMC Article
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
Robinson DC, Mammel AE, Logan AM, Larson AA, Schmidt EJ, Condon AF, Robinson FL
ASN Neuro 2018 Jan-Dec;10:1759091418803282. doi: 10.1177/1759091418803282. PMID: 30419760Free PMC Article

Clinical prediction guides

Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk.
Goldstein O, Gana-Weisz M, Banfi S, Nigro V, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Alcalay RN, Orr-Urtreger A
Mol Genet Metab 2023 Jun;139(2):107608. Epub 2023 May 12 doi: 10.1016/j.ymgme.2023.107608. PMID: 37201419
mTOR pathway gene mutations predict response to immune checkpoint inhibitors in multiple cancers.
Cheng L, Wang Y, Qiu L, Chang Y, Lu H, Liu C, Zhang B, Zhou Y, Bai H, Xiong L, Zhong H, Nie W, Han B
J Transl Med 2022 May 31;20(1):247. doi: 10.1186/s12967-022-03436-1. PMID: 35642038Free PMC Article
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
Robinson DC, Mammel AE, Logan AM, Larson AA, Schmidt EJ, Condon AF, Robinson FL
ASN Neuro 2018 Jan-Dec;10:1759091418803282. doi: 10.1177/1759091418803282. PMID: 30419760Free PMC Article

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