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    TSC1 TSC complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 7248, updated on 14-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.

    Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.
    Wang C, Zhai JX, Chen YJ., Free PMC Article

    10/30/2024
    miR-27a-3p promotes inflammatory response in infectious endophthalmitis via targeting TSC1.

    miR-27a-3p promotes inflammatory response in infectious endophthalmitis via targeting TSC1.
    Chen Y, Li S, He H., Free PMC Article

    10/2/2024
    The role of TSC1 and TSC2 proteins in neuronal axons.

    The role of TSC1 and TSC2 proteins in neuronal axons.
    Karalis V, Wood D, Teaney NA, Sahin M.

    07/15/2024
    CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.

    CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.
    Liao WT, Chiang YJ, Yang-Yen HF, Hsu LC, Chang ZF, Yen JJY., Free PMC Article

    01/31/2024
    Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease.

    Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease.
    Adriaanse BA, Brady S, Wang M, Beard DJ, Spencer JI, Pansieri J, Sutherland BA, Esiri MM, Buchan AM, Cader Z, Zhang B, DeLuca GC.

    06/29/2023
    TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.

    TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.
    Tjota MY, Sharma A, Wanjari P, Fitzpatrick C, Segal J, Antic T.

    04/4/2023
    TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities or a Tumor Family?

    TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities or a Tumor Family?
    Trpkov K.

    03/20/2023
    Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.

    Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.
    Ryu S, Kang HC, Lee SC, Byeon SH, Kim SS, Lee CS., Free PMC Article

    02/11/2023
    Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.

    Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.
    Jha R, Kurup A, Kovilapu UB, Ranjan R, Sondhi V.

    05/21/2022
    Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non-small cell lung cancer.

    Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non-small cell lung cancer.
    Huang Q, Li F, Hu H, Fang Z, Gao Z, Xia G, Ng WL, Khodadadi-Jamayran A, Chen T, Deng J, Zhang H, Almonte C, Labbe K, Han H, Geng K, Tang S, Freeman GJ, Li Y, Chen H, Wong KK., Free PMC Article

    04/30/2022
    Low-grade oncocytic tumor of kidney harboring TSC/MTOR mutation: clinicopathologic, immunohistochemical and molecular characteristics support a distinct entity.

    Low-grade oncocytic tumor of kidney harboring TSC/MTOR mutation: clinicopathologic, immunohistochemical and molecular characteristics support a distinct entity.
    Zhang HZ, Xia QY, Wang SY, Shi MJ, Wang SY.

    04/30/2022
    Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

    Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.
    Bennett JA, Ordulu Z, Pinto A, Wanjari P, Antonescu CR, Ritterhouse LL, Oliva E., Free PMC Article

    04/9/2022
    Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

    Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
    Wang S, Sun H, Wang J, Gu X, Han L, Wu Y, Yan H, Han L, Zhang H, He Y., Free PMC Article

    03/26/2022
    Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.

    Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
    Manzanilla-Romero HH, Weis D, Schnaiter S, Rudnik-Schöneborn S., Free PMC Article

    03/5/2022
    Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.

    Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.
    Kovesdi E, Ripszam R, Postyeni E, Horvath EB, Kelemen A, Fabos B, Farkas V, Hadzsiev K, Sumegi K, Magyari L, Moreno PG, Bauer P, Melegh B., Free PMC Article

    02/19/2022
    Renal Cell Carcinoma in Tuberous Sclerosis Complex.

    Renal Cell Carcinoma in Tuberous Sclerosis Complex.
    Henske EP, Cornejo KM, Wu CL., Free PMC Article

    02/12/2022
    UBE2S exerts oncogenic activities in urinary bladder cancer by ubiquitinating TSC1.

    UBE2S exerts oncogenic activities in urinary bladder cancer by ubiquitinating TSC1.
    Tang H, Fang T, Ji M, Wang JP, Song LL, Zhang QY, Wu JS.

    01/29/2022
    Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.

    Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
    Demir S, Yalçıntepe S, Atlı E, Yalçın Y, İkbal Atlı E, Eker D, Karal Y, Gürkan H., Free PMC Article

    01/22/2022
    Long noncoding RNA KB-1460A1.5 inhibits glioma tumorigenesis via miR-130a-3p/TSC1/mTOR/YY1 feedback loop.

    Long noncoding RNA KB-1460A1.5 inhibits glioma tumorigenesis via miR-130a-3p/TSC1/mTOR/YY1 feedback loop.
    Xu L, Wu Q, Yan H, Shu C, Fan W, Tong X, Li Q.

    01/8/2022
    Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma.

    Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma.
    Dong P, Wang X, Liu L, Tang W, Ma L, Zeng W, Sun S, Zhang L, Zhang N, Shen X, Janssen HLA, Dong L, Zhang S, Chen S.

    01/8/2022
    A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex.

    A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex.
    Li X, Hu T, Liu J, Fang B, Geng X, Xiong Q, Zhang L, Jin Y, Liu X, Li L, Wang Y, Li R, Bai X, Yang H, Dai Y.

    10/16/2021
    Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.

    Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
    Fohlen M, Harzallah I, Polivka M, Giuliano F, Pons L, Streichenberger N, Dorfmüller G, Touraine R.

    08/28/2021
    Upregulation of 6-phosphofructo-2-kinase (PFKFB3) by hyperactivated mammalian target of rapamycin complex 1 is critical for tumor growth in tuberous sclerosis complex.

    Upregulation of 6-phosphofructo-2-kinase (PFKFB3) by hyperactivated mammalian target of rapamycin complex 1 is critical for tumor growth in tuberous sclerosis complex.
    Wang Y, Tang S, Wu Y, Wan X, Zhou M, Li H, Zha X.

    08/21/2021
    Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines.

    Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines.
    He L, Ye W, Chen Z, Meng X, Jiang H.

    08/14/2021
    Antiproliferative effect of bacterial cyclodipeptides in the HeLa line of human cervical cancer reveals multiple protein kinase targeting, including mTORC1/C2 complex inhibition in a TSC1/2-dependent manner.

    Antiproliferative effect of bacterial cyclodipeptides in the HeLa line of human cervical cancer reveals multiple protein kinase targeting, including mTORC1/C2 complex inhibition in a TSC1/2-dependent manner.
    Hernández-Padilla L, Reyes de la Cruz H, Campos-García J.

    07/31/2021
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