Repeat expansion disease: progress and puzzles in disease pathogenesis

AR La Spada, JP Taylor - Nature Reviews Genetics, 2010 - nature.com
Repeat expansion mutations cause at least 22 inherited neurological diseases. The
complexity of repeat disease genetics and pathobiology has revealed unexpected shared …

[HTML][HTML] CTCF and cohesin: linking gene regulatory elements with their targets

M Merkenschlager, DT Odom - Cell, 2013 - cell.com
Current epigenomics approaches have facilitated the genome-wide identification of
regulatory elements based on chromatin features and transcriptional regulator binding and …

Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor α in breast cancer cells

P de Souza Rocha Simonini, A Breiling, N Gupta… - Cancer research, 2010 - AACR
Estrogen receptor α (ERα) upregulation causes abnormal cell proliferation in about two
thirds of breast cancers, yet understanding of the underlying mechanisms remains …

Endonuclease-sensitive regions of human spermatozoal chromatin are highly enriched in promoter and CTCF binding sequences

A Arpanahi, M Brinkworth, D Iles, SA Krawetz… - Genome …, 2009 - genome.cshlp.org
During the haploid phase of mammalian spermatogenesis, nucleosomal chromatin is
ultimately repackaged by small, highly basic protamines to generate an extremely compact …

TET‐catalyzed oxidation of intragenic 5‐methylcytosine regulates CTCF‐dependent alternative splicing

RJ Marina, D Sturgill, MA Bailly, M Thenoz… - The EMBO …, 2016 - embopress.org
Intragenic 5‐methylcytosine and CTCF mediate opposing effects on pre‐mRNA splicing:
CTCF promotes inclusion of weak upstream exons through RNA polymerase II pausing …

Zinc finger proteins: functions and mechanisms in colon cancer

S Liu, X Sima, X Liu, H Chen - Cancers, 2022 - mdpi.com
Simple Summary Over the past few decades, despite advances in colon cancer surgery, the
pro-gnosis of late colon cancer patients with liver metastasis remains poor. Currently, its …

CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination

RT Libby, KA Hagerman, VV Pineda, R Lau… - PLoS …, 2008 - journals.plos.org
At least 25 inherited disorders in humans result from microsatellite repeat expansion.
Dramatic variation in repeat instability occurs at different disease loci and between different …

Epigenetic regulation of the human p53 gene promoter by the CTCF transcription factor in transformed cell lines

E Soto-Reyes, F Recillas-Targa - Oncogene, 2010 - nature.com
Epigenetic silencing of tumor suppressor gene promoters has become a more frequent
phenomenon in cancer than previously anticipated. In this study we addressed the …

Alternative splicing, epigenetic modifications and cancer: a dangerous triangle, or a hopeful one?

F Gimeno-Valiente, G López-Rodas, J Castillo… - Cancers, 2022 - mdpi.com
Simple Summary Epigenetics studies the alteration of gene expression without changing
DNA sequence and very often, epigenetic dysregulation causes cancer. Alternative splicing …

Intragenic DNA methylation and BORIS-mediated cancer-specific splicing contribute to the Warburg effect

S Singh, SP Narayanan, K Biswas… - Proceedings of the …, 2017 - National Acad Sciences
Aberrant alternative splicing and epigenetic changes are both associated with various
cancers, but epigenetic regulation of alternative splicing in cancer is largely unknown. Here …