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Genetics of human telomere biology disorders
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …
prevent the activation of DNA damage response and repair pathways. Numerous factors …
Epidemiology of ovarian cancer: a review
BM Reid, JB Permuth, TA Sellers - Cancer biology & medicine, 2017 - cancerbiomed.org
Ovarian cancer (OC) is the seventh most commonly diagnosed cancer among women in the
world and the tenth most common in China. Epithelial OC is the most predominant …
world and the tenth most common in China. Epithelial OC is the most predominant …
DNA methylation QTL map** across diverse human tissues provides molecular links between genetic variation and complex traits
M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …
specific characterization of DNAm is needed to understand its role in gene regulation and its …
The landscape of tolerated genetic variation in humans and primates
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …
through which ageing confers this risk are largely unknown. The age-related acquisition of …
TERT—regulation and roles in cancer formation
M Dratwa, B Wysoczańska, P Łacina, T Kubik… - Frontiers in …, 2020 - frontiersin.org
Telomerase reverse transcriptase (TERT) is a catalytic subunit of telomerase. Telomerase
complex plays a key role in cancer formation by telomere dependent or independent …
complex plays a key role in cancer formation by telomere dependent or independent …
[HTML][HTML] Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …
RNA alterations have been described in cancer, including overexpression, altered splicing …
Telomeres and telomere length: a general overview
N Srinivas, S Rachakonda, R Kumar - Cancers, 2020 - mdpi.com
Telomeres are highly conserved tandem nucleotide repeats that include proximal double-
stranded and distal single-stranded regions that in complex with shelterin proteins afford …
stranded and distal single-stranded regions that in complex with shelterin proteins afford …
Role of telomeres and telomerase in aging and cancer
JW Shay - Cancer discovery, 2016 - aacrjournals.org
Telomeres progressively shorten throughout life. A hallmark of advanced malignancies is
the ability for continuous cell divisions that almost universally correlates with the stabilization …
the ability for continuous cell divisions that almost universally correlates with the stabilization …
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
CM Phelan, KB Kuchenbaecker, JP Tyrer, SP Kar… - Nature …, 2017 - nature.com
To identify common alleles associated with different histotypes of epithelial ovarian cancer
(EOC), we pooled data from multiple genome-wide genoty** projects totaling 25,509 EOC …
(EOC), we pooled data from multiple genome-wide genoty** projects totaling 25,509 EOC …