These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 34965576)

  • 1. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.
    Ishida S; Zhao D; Sawada Y; Hiraoka Y; Mashimo T; Tanaka K
    Hum Mol Genet; 2022 May; 31(9):1519-1530. PubMed ID: 34965576
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
    Weckhuysen S; Marsan E; Lambrecq V; Marchal C; Morin-Brureau M; An-Gourfinkel I; Baulac M; Fohlen M; Kallay Zetchi C; Seeck M; de la Grange P; Dermaut B; Meurs A; Thomas P; Chassoux F; Leguern E; Picard F; Baulac S
    Epilepsia; 2016 Jun; 57(6):994-1003. PubMed ID: 27173016
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.
    Iffland PH; Carson V; Bordey A; Crino PB
    Epilepsia; 2019 Nov; 60(11):2163-2173. PubMed ID: 31625153
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug-resistant focal epilepsy.
    Xiong W; Tang L; Lu L; Zhang L; Xiao Y; Zhou D
    Acta Neurol Scand; 2019 Mar; 139(3):247-253. PubMed ID: 30427063
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
    Ricos MG; Hodgson BL; Pippucci T; Saidin A; Ong YS; Heron SE; Licchetta L; Bisulli F; Bayly MA; Hughes J; Baldassari S; Palombo F; ; Santucci M; Meletti S; Berkovic SF; Rubboli G; Thomas PQ; Scheffer IE; Tinuper P; Geoghegan J; Schreiber AW; Dibbens LM
    Ann Neurol; 2016 Jan; 79(1):120-31. PubMed ID: 26505888
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GATOR1 Mutations Impair PI3 Kinase-Dependent Growth Factor Signaling Regulation of mTORC1.
    Muller M; Bélanger J; Hadj-Aissa I; Zhang C; Sephton CF; Dutchak PA
    Int J Mol Sci; 2024 Feb; 25(4):. PubMed ID: 38396745
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Everolimus precision therapy for the GATOR1-related epilepsies: A case series.
    Moloney PB; Kearney H; Benson KA; Costello DJ; Cavalleri GL; Gorman KM; Lynch BJ; Delanty N
    Eur J Neurol; 2023 Oct; 30(10):3341-3346. PubMed ID: 37422919
    [TBL] [Abstract][Full Text] [Related]  

  • 8. mTOR signaling pathway genes in focal epilepsies.
    Baulac S
    Prog Brain Res; 2016; 226():61-79. PubMed ID: 27323939
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
    Bacq A; Roussel D; Bonduelle T; Zagaglia S; Maletic M; Ribierre T; Adle-Biassette H; Marchal C; Jennesson M; An I; ; Picard F; Navarro V; Sisodiya SM; Baulac S
    Ann Neurol; 2022 Jan; 91(1):101-116. PubMed ID: 34693554
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.
    Du S; Zeng S; Song L; Ma H; Chen R; Luo J; Wang X; Ma T; Xu X; Sun H; Yi P; Guo J; Huang Y; Liu M; Wang T; Liao WP; Zhang L; Liu JY; Tang B
    Sci China Life Sci; 2023 Sep; 66(9):2152-2166. PubMed ID: 37071290
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and genetic features of GATOR1 complex-associated epilepsy.
    Yin K; Lei X; Yan Z; Yang Y; Deng Q; Lu Q; Zhang X; Wang M; Liu Q
    J Med Genet; 2023 Aug; 60(8):784-790. PubMed ID: 36604176
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1.
    Klofas LK; Short BP; Zhou C; Carson RP
    Hum Mol Genet; 2020 May; 29(8):1365-1377. PubMed ID: 32280987
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
    Sim JC; Scerri T; Fanjul-Fernández M; Riseley JR; Gillies G; Pope K; van Roozendaal H; Heng JI; Mandelstam SA; McGillivray G; MacGregor D; Kannan L; Maixner W; Harvey AS; Amor DJ; Delatycki MB; Crino PB; Bahlo M; Lockhart PJ; Leventer RJ
    Ann Neurol; 2016 Jan; 79(1):132-7. PubMed ID: 26285051
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.
    Yuskaitis CJ; Rossitto LA; Gurnani S; Bainbridge E; Poduri A; Sahin M
    Hum Mol Genet; 2019 Sep; 28(17):2952-2964. PubMed ID: 31174205
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy.
    Dawson RE; Nieto Guil AF; Robertson LJ; Piltz SG; Hughes JN; Thomas PQ
    Neurobiol Dis; 2020 Feb; 134():104640. PubMed ID: 31639411
    [TBL] [Abstract][Full Text] [Related]  

  • 16. NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
    Iffland PH; Everett ME; Cobb-Pitstick KM; Bowser LE; Barnes AE; Babus JK; Romanowski AJ; Baybis M; Elziny S; Puffenberger EG; Gonzaga-Jauregui C; Poulopoulos A; Carson VJ; Crino PB
    Brain; 2022 Nov; 145(11):3872-3885. PubMed ID: 35136953
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [DEPDC5, a new key to understand various epilepsies].
    Ishida S
    Nihon Yakurigaku Zasshi; 2018; 152(6):281-285. PubMed ID: 30531098
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
    Wang H; Liu W; Zhang Y; Liu Q; Cai L; Jiang Y
    Epilepsia Open; 2023 Sep; 8(3):969-979. PubMed ID: 37259768
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel GATOR1 variants in focal epilepsy.
    Kovačević M; Janković M; Branković M; Milićević O; Novaković I; Sokić D; Ristić A; Shamsani J; Vojvodić N
    Epilepsy Behav; 2023 Apr; 141():109139. PubMed ID: 36848747
    [TBL] [Abstract][Full Text] [Related]  

  • 20. NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression.
    Wang YC; Tsai MC; Chen YS; Hsieh PM; Hung CM; Lin HY; Hsu YC; Yeh JH; Hsiao P; Su YC; Ma CH; Lee CY; Lin CC; Shu CW; Li YC; Tsai MH; Lin JY; Peng WH; Yu ML; Lin CW
    Hepatol Commun; 2022 Dec; 6(12):3563-3577. PubMed ID: 36321403
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.