Saha(BC),Sinha(BP),Kumari(R),Onkar(A),Sinh... Eur J Ophthalmol 2026-09-00

...GJA8-account for the majority of ASD cases. Novel associations involving CPAMD8, JAG1, and ADAMTS18 have broadened the k...

Elmakkawy(G),Nabil(A),Nabil(K),Amin(AK),Ma... Mol Vis None

...GJA8, FRAS1 and UBE3B. Among the variants, six were classified as pathogenic, five as likely pathogenic, and two as vari...

Huang(T),Sun(HS),Liu(YN),Xie(QL),Liu(Y),Mi... Front Genet None

...GJA8, MIP, NHS, BCOR, COL11A1, PAX6, FTL, and FYCO1). In total, 15 pathogenic/likely pathogenic variants were detected, ...

Rabinovich(Y),Vardizer(Y),Pincovich(S),Wol... Biomolecules 2026-08-21

...GJA8, SOX2, RARB, TSPAN12, SHH, PTPN11, BEST1, and TP63). An in vitro splicing assay was used to explore the pathogenici...

Viet(J),Duot(M),Méreau(A),Audic(Y),Jan(I),... NAR Mol Med 2026-07-00

...Gja8, Jag1, Maf, Pax6, or Prox1. Integrated analysis with transcriptomic data and luciferase reporter assays demonstrate...

Viet(J),Duot(M),Méreau(A),Audic(Y),Jan(I),... bioRxiv 2026-01-10

...Gja8, Jag1, Maf, Pax6, or Prox1. Integrated analysis with transcriptomic data and luciferase reporter assays demonstrate...

Wei(F),Liu(Z),Yu(X),Sun(Y),Zhao(Y),Wang(Y)... Autophagy 2026-09-00

...GJA8/connexin 50: gap junction protein alpha 8; H/R: hypoxia-reoxygenation; HDAC: histone deacetylase; KAT2B/PCAF: lysin...

Nishina(S),Anzai(H),Yoshida(T),Koyanagi(Y)... Ophthalmol Sci 2026-10-00

...GJA8 genes and parentally derived variants in the FOXC1 and CYP1B1 genes were the major causes of ASD/aniridia. Micropht...

Guo(X),Guo(J),Liu(X),Hu(T) Front Genet 2025-00-00

...GJA8. This review focuses on the roles of these five genes in brain function and explores their potential pathophysiolog...

Delas(F),Gloggnitzer(J),Maspoli(A),Kurmann... Biomedicines 2025-08-02

...GJA8 variants and their phenotypic presentation. Methods: Whole-exome sequencing (WES) was conducted on 20 unrelated Swi...