150 related articles for article (PubMed ID: 37186408)
1. 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]
2. 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]
3. 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]
4. 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]
5. Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsy.
Niu W; Deng L; Mojica-Perez SP; Tidball AM; Sudyk R; Stokes K; Parent JM
Front Cell Neurosci; 2024; 18():1339345. PubMed ID: 38638299
[TBL] [Abstract][Full Text] [Related]
6. Mosaicism-independent mechanisms contribute to Pcdh19-related epilepsy and repetitive behaviors in
Park J; Lee E; Kim CH; Ohk J; Jung H
Proc Natl Acad Sci U S A; 2024 May; 121(21):e2321388121. PubMed ID: 38748583
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. PCDH19-clustering epilepsy, pathophysiology and clinical significance.
Kowkabi S; Yavarian M; Kaboodkhani R; Mohammadi M; Shervin Badv R
Epilepsy Behav; 2024 May; 154():109730. PubMed ID: 38521028
[TBL] [Abstract][Full Text] [Related]
9. NGS-Based Identification of Two Novel
Szalai R; Hadzsiev K; Till A; Fogarasi A; Bodo T; Buki G; Banfai Z; Bene J
Int J Mol Sci; 2024 May; 25(11):. PubMed ID: 38891919
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Mosaicism and incomplete penetrance of
Liu A; Yang X; Yang X; Wu Q; Zhang J; Sun D; Yang Z; Jiang Y; Wu X; Wei L; Zhang Y
J Med Genet; 2019 Feb; 56(2):81-88. PubMed ID: 30287595
[TBL] [Abstract][Full Text] [Related]
13. Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder.
Lamers D; Landi S; Mezzena R; Baroncelli L; Pillai V; Cruciani F; Migliarini S; Mazzoleni S; Pasqualetti M; Passafaro M; Bassani S; Ratto GM
Cells; 2022 Jun; 11(12):. PubMed ID: 35741068
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.
Compagnucci C; Petrini S; Higuraschi N; Trivisano M; Specchio N; Hirose S; Bertini E; Terracciano A
Oncotarget; 2015 Sep; 6(29):26804-13. PubMed ID: 26450854
[TBL] [Abstract][Full Text] [Related]
18. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
Tan Y; Hou M; Ma S; Liu P; Xia S; Wang Y; Chen L; Chen Z
BMC Med Genet; 2018 Jun; 19(1):92. PubMed ID: 29866057
[TBL] [Abstract][Full Text] [Related]
19. Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
Kozina AA; Okuneva EG; Baryshnikova NV; Fedonyuk ID; Kholin AA; Il'ina ES; Krasnenko AY; Stetsenko IF; Plotnikov NA; Klimchuk OI; Surkova EI; Ilinsky VV
BMC Med Genet; 2020 Oct; 21(1):209. PubMed ID: 33087045
[TBL] [Abstract][Full Text] [Related]
20. Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
Perez D; Hsieh DT; Rohena L
Am J Med Genet A; 2017 Jun; 173(6):1625-1630. PubMed ID: 28462982
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]