BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 27340224)

  • 1. Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.
    Warner TA; Shen W; Huang X; Liu Z; Macdonald RL; Kang JQ
    Hum Mol Genet; 2016 Aug; 25(15):3192-3207. PubMed ID: 27340224
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy.
    Xia G; P Pourali S; Warner TA; Zhang CQ; L Macdonald R; Kang JQ
    Epilepsy Res; 2016 Jul; 123():50-4. PubMed ID: 27131289
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2
    Huang X; Zhou C; Tian M; Kang JQ; Shen W; Verdier K; Pimenta A; MacDonald RL
    Epilepsia; 2017 Aug; 58(8):1451-1461. PubMed ID: 28586508
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2
    Shen W; Poliquin S; Macdonald RL; Dong M; Kang JQ
    Epilepsia; 2020 Oct; 61(10):2301-2312. PubMed ID: 32944937
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2
    Shen W; Flamm C; Delahanty AJ; Casteel E; Biven M; DeLeeuw MB; Poliquin S; Nwosu G; Randhave K; Kang JQ
    Epilepsia; 2024 Jan; 65(1):204-217. PubMed ID: 37746768
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
    Kang JQ; Macdonald RL
    JAMA Neurol; 2016 Aug; 73(8):1009-16. PubMed ID: 27367160
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.
    Zhang CQ; McMahon B; Dong H; Warner T; Shen W; Gallagher M; Macdonald RL; Kang JQ
    Epilepsia; 2019 Jun; 60(6):1137-1149. PubMed ID: 31087664
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
    Kang JQ; Shen W; Macdonald RL
    Ann Neurol; 2013 Oct; 74(4):547-59. PubMed ID: 23720301
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
    Shi YW; Zhang Q; Cai K; Poliquin S; Shen W; Winters N; Yi YH; Wang J; Hu N; Macdonald RL; Liao WP; Kang JQ
    Brain; 2019 Oct; 142(10):3028-3044. PubMed ID: 31435640
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.
    Kang JQ; Shen W; Zhou C; Xu D; Macdonald RL
    Nat Neurosci; 2015 Jul; 18(7):988-96. PubMed ID: 26005849
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity.
    Wang J; Shen D; Xia G; Shen W; Macdonald RL; Xu D; Kang JQ
    Sci Rep; 2016 Oct; 6():35294. PubMed ID: 27762395
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
    Huang X; Hernandez CC; Hu N; Macdonald RL
    Neurobiol Dis; 2014 Aug; 68():167-79. PubMed ID: 24798517
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.
    Ishii A; Kanaumi T; Sohda M; Misumi Y; Zhang B; Kakinuma N; Haga Y; Watanabe K; Takeda S; Okada M; Ueno S; Kaneko S; Takashima S; Hirose S
    Epilepsy Res; 2014 Mar; 108(3):420-32. PubMed ID: 24480790
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GABRG2 Deletion Linked to Genetic Epilepsy with Febrile Seizures Plus Affects the Expression of GABA
    Li X; Guo S; Liu K; Zhang C; Chang H; Yang W; Rong S; Hu Q; Cui J; Wang F; Sun T
    Neuroscience; 2020 Jul; 438():116-136. PubMed ID: 32418750
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De novo GABRG2 mutations associated with epileptic encephalopathies.
    Shen D; Hernandez CC; Shen W; Hu N; Poduri A; Shiedley B; Rotenberg A; Datta AN; Leiz S; Patzer S; Boor R; Ramsey K; Goldberg E; Helbig I; Ortiz-Gonzalez XR; Lemke JR; Marsh ED; Macdonald RL
    Brain; 2017 Jan; 140(1):49-67. PubMed ID: 27864268
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome.
    Poliquin S; Nwosu G; Randhave K; Shen W; Flamm C; Kang JQ
    Int J Mol Sci; 2024 Apr; 25(9):. PubMed ID: 38731820
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
    Kang JQ; Shen W; Macdonald RL
    J Neurosci; 2009 Mar; 29(9):2845-56. PubMed ID: 19261880
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mice harboring the T316N variant in the GABA
    Jiang YL; Xia L; Zhao JJ; Zhou HM; Mi D; Wang X; Wang YY; Song CG; Jiang W
    Exp Neurol; 2024 Jun; 376():114775. PubMed ID: 38604438
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Hernandez CC; Shen Y; Hu N; Shen W; Narayanan V; Ramsey K; He W; Zou L; Macdonald RL
    Biomolecules; 2023 Feb; 13(3):. PubMed ID: 36979350
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sleep slow-wave oscillations trigger seizures in a genetic epilepsy model of Dravet syndrome.
    Catron MA; Howe RK; Besing GK; St John EK; Potesta CV; Gallagher MJ; Macdonald RL; Zhou C
    Brain Commun; 2023; 5(1):fcac332. PubMed ID: 36632186
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.