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 *

159 related articles for article (PubMed ID: 38280856)

  • 1. Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.
    de Nys R; van Eyk CL; Ritchie T; Møller RS; Scheffer IE; Marini C; Bhattacharjee R; Kumar R; Gecz J
    Transl Psychiatry; 2024 Jan; 14(1):65. PubMed ID: 38280856
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.
    de Nys R; Kumar R; Gecz J
    Int J Mol Sci; 2021 Sep; 22(18):. PubMed ID: 34575929
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).
    Pham DH; Tan CC; Homan CC; Kolc KL; Corbett MA; McAninch D; Fox AH; Thomas PQ; Kumar R; Gecz J
    Hum Mol Genet; 2017 Jun; 26(11):2042-2052. PubMed ID: 28334947
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
    Alaverdian D; Corradi AM; Sterlini B; Benfenati F; Murru L; Passafaro M; Brunetti J; Meloni I; Mari F; Renieri A; Frullanti E
    Epileptic Disord; 2023 Jun; 25(3):371-382. PubMed ID: 37186408
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).
    Mincheva-Tasheva S; Nieto Guil AF; Homan CC; Gecz J; Thomas PQ
    Mol Neurobiol; 2021 May; 58(5):2005-2018. PubMed ID: 33411240
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A complete Protocadherin-19 ectodomain model for evaluating epilepsy-causing mutations and potential protein interaction sites.
    Hudson JD; Tamilselvan E; Sotomayor M; Cooper SR
    Structure; 2021 Oct; 29(10):1128-1143.e4. PubMed ID: 34520737
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.
    Dell'Isola GB; Mencaroni E; Fattorusso A; Tascini G; Prontera P; Imperatore V; Di Cara G; Striano P; Verrotti A
    BMC Med Genomics; 2022 Aug; 15(1):181. PubMed ID: 35978409
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.
    Gecz J; Thomas PQ
    Curr Opin Genet Dev; 2020 Dec; 65():169-175. PubMed ID: 32726744
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.
    Robens BK; Yang X; McGraw CM; Turner LH; Robens C; Thyme S; Rotenberg A; Poduri A
    Neurobiol Dis; 2022 Jul; 169():105738. PubMed ID: 35460869
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
    Pham DH; Pitman MR; Kumar R; Jolly LA; Schulz R; Gardner AE; de Nys R; Heron SE; Corbett MA; Kothur K; Gill D; Rajagopalan S; Kolc KL; Halliday BJ; Robertson SP; Regan BM; Kirsch HE; Berkovic SF; Scheffer IE; Pitson SM; Petrovski S; Gecz J
    Hum Mutat; 2021 Aug; 42(8):1030-1041. PubMed ID: 34082468
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.
    Borghi R; Magliocca V; Trivisano M; Specchio N; Tartaglia M; Bertini E; Compagnucci C
    Int J Mol Sci; 2022 Mar; 23(7):. PubMed ID: 35408865
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family.
    Hung LY; Subramaniam SR; Tong TT; Chan WK; Yau EK; Ching CK
    Clin Chim Acta; 2021 Oct; 521():285-288. PubMed ID: 34331950
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.
    Homan CC; Pederson S; To TH; Tan C; Piltz S; Corbett MA; Wolvetang E; Thomas PQ; Jolly LA; Gecz J
    Neurobiol Dis; 2018 Aug; 116():106-119. PubMed ID: 29763708
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.
    Zhang X; Chen N; Ma A; Wang X; Sun W; Gao Y
    Medicine (Baltimore); 2018 Dec; 97(51):e13749. PubMed ID: 30572518
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Proximity-dependent Proteomics Reveals Extensive Interactions of Protocadherin-19 with Regulators of Rho GTPases and the Microtubule Cytoskeleton.
    Emond MR; Biswas S; Morrow ML; Jontes JD
    Neuroscience; 2021 Jan; 452():26-36. PubMed ID: 33010346
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.
    Kolc KL; Møller RS; Sadleir LG; Scheffer IE; Kumar R; Gecz J
    Adv Exp Med Biol; 2020; 1298():177-187. PubMed ID: 32852734
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
    Kolc KL; Sadleir LG; Depienne C; Marini C; Scheffer IE; Møller RS; Trivisano M; Specchio N; Pham D; Kumar R; Roberts R; Gecz J
    Transl Psychiatry; 2020 May; 10(1):127. PubMed ID: 32366910
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
    Pederick DT; Richards KL; Piltz SG; Kumar R; Mincheva-Tasheva S; Mandelstam SA; Dale RC; Scheffer IE; Gecz J; Petrou S; Hughes JN; Thomas PQ
    Neuron; 2018 Jan; 97(1):59-66.e5. PubMed ID: 29301106
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.
    Gerosa L; Mazzoleni S; Rusconi F; Longaretti A; Lewerissa E; Pelucchi S; Murru L; Giannelli SG; Broccoli V; Marcello E; Kasri NN; Battaglioli E; Passafaro M; Bassani S
    Cell Rep; 2022 May; 39(8):110857. PubMed ID: 35613587
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
    Zhao X; Wang Y; Mei S; Kong X
    Mol Genet Genomic Med; 2020 Jun; 8(6):e1234. PubMed ID: 32314541
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.