Role of non-coding sequence variants in cancer

E Khurana, Y Fu, D Chakravarty, F Demichelis… - Nature Reviews …, 2016 - nature.com
Patients with cancer carry somatic sequence variants in their tumour in addition to the
germline variants in their inherited genome. Although variants in protein-coding regions …

[HTML][HTML] Transcriptional regulation and its misregulation in disease

TI Lee, RA Young - Cell, 2013 - cell.com
The gene expression programs that establish and maintain specific cell states in humans
are controlled by thousands of transcription factors, cofactors, and chromatin regulators …

Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms

D Grishin, A Gusev - Nature genetics, 2022 - nature.com
While many germline cancer risk variants have been identified through genome-wide
association studies (GWAS), the mechanisms by which these variants operate remain …

Domestic dogs and cancer research: a breed-based genomics approach

BW Davis, EA Ostrander - ILAR journal, 2014 - academic.oup.com
Domestic dogs are unique from other animal models of cancer in that they generally
experience spontaneous disease. In addition, most types of cancer observed in humans are …

The CTSA program at NIH: Opportunities for advancing clinical and translational research

CT Liverman, AM Schultz, SF Terry, AI Leshner - 2013 - books.google.com
In 2006 the National Institutes of Health (NIH) established the Clinical and Translational
Science Awards (CTSA) Program, recognizing the need for a new impetus to encourage …

Enhancer deregulation in cancer and other diseases

HM Herz - Bioessays, 2016 - Wiley Online Library
Mutations in enhancer‐associated chromatin‐modifying components and genomic
alterations in non‐coding regions of the genome occur frequently in cancer, and other …

Comprehensive map of age-associated splicing changes across human tissues and their contributions to age-associated diseases

K Wang, D Wu, H Zhang, A Das, M Basu, J Malin… - Scientific reports, 2018 - nature.com
Alternative splicing contributes to phenotypic diversity at multiple biological scales, and its
dysregulation is implicated in both ageing and age-associated diseases in human. Cross …

Germline duplication of SNORA18L5 increases risk for HBV-related hepatocellular carcinoma by altering localization of ribosomal proteins and decreasing levels of …

P Cao, A Yang, R Wang, X Xia, Y Zhai, Y Li, F Yang… - Gastroenterology, 2018 - Elsevier
Background & Aims Single nucleotide polymorphisms could affect risk for hepatitis B virus
(HBV)-related hepatocellular carcinoma (HCC). We performed a germline copy number …

[HTML][HTML] Germline copy number variations are associated with breast cancer risk and prognosis

M Kumaran, CE Cass, K Graham, JR Mackey… - Scientific reports, 2017 - nature.com
Breast cancer is one of the most common cancers among women, and susceptibility is
explained by genetic, lifestyle and environmental components. Copy Number Variants …

PROTACs: new method to degrade transcription regulating proteins

B Hu, Y Zhou, D Sun, Y Yang, Y Liu, X Li, H Li… - European journal of …, 2020 - Elsevier
Transcription is the fundamental process in all living organisms. A variety of important
proteins, such as NRs, BETs, HDACs and many others are involved in transcription process …