Clear cell renal cell carcinoma ontogeny and mechanisms of lethality

E Jonasch, CL Walker, WK Rathmell - Nature Reviews Nephrology, 2021 - nature.com
The molecular features that define clear cell renal cell carcinoma (ccRCC) initiation and
progression are being increasingly defined. The TRACERx Renal studies and others that …

The tubulin code, from molecules to health and disease

ED McKenna, SL Sarbanes… - Annual review of cell …, 2023 - annualreviews.org
Microtubules are essential dynamic polymers composed of α/β-tubulin heterodimers. They
support intracellular trafficking, cell division, cellular motility, and other essential cellular …

PBRM1, SETD2 and BAP1—the trinity of 3p in clear cell renal cell carcinoma

J Walton, K Lawson, P Prinos, A Finelli… - Nature Reviews …, 2023 - nature.com
Biallelic inactivation of the tumour suppressor gene Von Hippel–Lindau (VHL) occurs in the
vast majority of clear cell renal cell carcinoma (ccRCC) instances, disrupting cellular oxygen …

[PDF][PDF] Reactivation of the G1 enhancer landscape underlies core circuitry addiction to SWI/SNF

K Cermakova, L Tao, M Dejmek, M Sala… - Nucleic acids …, 2024 - academic.oup.com
Several cancer core regulatory circuitries (CRCs) depend on the sustained generation of
DNA accessibility by SWI/SNF chromatin remodelers. However, the window when SWI/SNF …

Mechanisms underlying dilated cardiomyopathy associated with FKBP12 deficiency

AD Hanna, T Chang, KS Ho, RSZ Yee… - Journal of General …, 2025 - rupress.org
Dilated cardiomyopathy (DCM) is a highly prevalent and genetically heterogeneous
condition that results in decreased contractility and impaired cardiac function. The FK506 …

PBRM1 bromodomains associate with RNA to facilitate chromatin association

SM De Silva, A Dhiman, S Sood… - Nucleic acids …, 2023 - academic.oup.com
PBRM1 is a subunit of the PBAF chromatin remodeling complex, which is mutated in 40–
50% of clear cell renal cell carcinoma patients. It is thought to largely function as a chromatin …

Alternative splicing of PBRM1 mediates resistance to PD-1 blockade therapy in renal cancer

N Cho, SY Kim, SG Lee, C Park, S Choi, EM Kim… - The EMBO …, 2024 - embopress.org
Alternative pre-mRNA splicing (AS) is a biological process that results in proteomic diversity.
However, implications of AS alterations in cancer remain poorly understood. Herein, we …

Integration of epigenetic mechanisms into non-genotoxic carcinogenicity hazard assessment: Focus on DNA methylation and histone modifications

D Desaulniers, P Vasseur, A Jacobs… - International Journal of …, 2021 - mdpi.com
Epigenetics involves a series of mechanisms that entail histone and DNA covalent
modifications and non-coding RNAs, and that collectively contribute to programing cell …

GNE-235: a lead compound selective for the second bromodomain of PBRM1

AG Cochran, M Flynn - Journal of Medicinal Chemistry, 2023 - ACS Publications
Bromodomains are acetyl-lysine binding modules that are found in different classes of
chromatin-interacting proteins. Among these are large chromatin remodeling complexes …

Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads

CS Lee, SY Jung, RSZ Yee, NH Agha, J Hong… - Communications …, 2023 - nature.com
Here we show that striated muscle preferentially expressed protein kinase α (Spegα)
maintains cardiac function in hearts with Spegβ deficiency. Speg is required for stability of …