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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
Aberrant alternative splicing and epigenetic changes are both associated with various
cancers, but epigenetic regulation of alternative splicing in cancer is largely unknown. Here …
cancers, but epigenetic regulation of alternative splicing in cancer is largely unknown. Here …