Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration DOI Creative Commons
Luigi Donato, Concetta Scimone, Simona Alibrandi

и другие.

Heliyon, Год журнала: 2024, Номер 10(8), С. e29828 - e29828

Опубликована: Апрель 1, 2024

This pilot study investigates the potential pathogenic role of G-quadruplex (G4) structures in

Язык: Английский

Pan-cancer integrated bioinformatic analysis of RNA polymerase subunits reveal RNA Pol I member CD3EAP regulates cell growth by modulating autophagy DOI

Nikita Bhandari,

Disha Acharya, Annesha Chatterjee

и другие.

Cell Cycle, Год журнала: 2023, Номер 22(18), С. 1986 - 2002

Опубликована: Сен. 17, 2023

Transcription is a crucial stage in gene expression. An integrated study of 34 RNA polymerase subunits (RNAPS) the six most frequent cancer types identified several genetic and epigenetic modification. We discovered nine mutant RNAPS with mutation frequency more than 1% at least one tumor type. POLR2K POLR2H were found to be amplified overexpressed, whereas POLR3D was deleted downregulated. Multiple also observed regulated by variations promoter methylation. 5-Aza-2-deoxycytidine mediated re-expression cell lines verified methylation-driven inhibition POLR2F POLR2L expression BRCA NSCLC, respectively. Next, we showed that CD3EAP, Pol I subunit, overexpressed all associated worst survival breast, liver, lung, prostate cancers. The knockdown studies CD3EAP required for proliferation induces autophagy but not apoptosis. Furthermore, rescued cells. correlated S G2 phase cycle regulators, inhibited CDK/cyclins. POLR2D, an pol II as commonly prognostic multiple POLR2D decreased proliferation. related transcription just subset POL transcribe genes, indicating distinct role. Taken together, have shown regulation genes common tumors. demonstrated cancer-specific function genes.

Язык: Английский

Процитировано

5

FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum DOI
Xing Wei, Hui Li,

Tian Zhu

и другие.

Experimental Eye Research, Год журнала: 2023, Номер 234, С. 109600 - 109600

Опубликована: Июль 20, 2023

Язык: Английский

Процитировано

4

Aurora kinase B disruption suppresses pathological retinal angiogenesis by affecting cell cycle progression DOI

Weiye Zhu,

Gui Xiao, Yukun Zhou

и другие.

Experimental Eye Research, Год журнала: 2023, Номер 239, С. 109753 - 109753

Опубликована: Дек. 23, 2023

Язык: Английский

Процитировано

4

Transcriptional patterns of human retinal pigment epithelial cells under protracted high glucose DOI
Hao Huang,

Jingshu Zeng,

Xielan Kuang

и другие.

Molecular Biology Reports, Год журнала: 2024, Номер 51(1)

Опубликована: Апрель 4, 2024

Язык: Английский

Процитировано

1

Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration DOI Creative Commons
Luigi Donato, Concetta Scimone, Simona Alibrandi

и другие.

Heliyon, Год журнала: 2024, Номер 10(8), С. e29828 - e29828

Опубликована: Апрель 1, 2024

This pilot study investigates the potential pathogenic role of G-quadruplex (G4) structures in

Язык: Английский

Процитировано

1