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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 …
Sha** human telomeres: from shelterin and CST complexes to telomeric chromatin organization
The regulation of telomere length in mammals is crucial for chromosome end-cap** and
thus for maintaining genome stability and cellular lifespan. This process requires …
thus for maintaining genome stability and cellular lifespan. This process requires …
Familial clonal hematopoiesis in a long telomere syndrome
Background Telomere shortening is a well-characterized cellular aging mechanism, and
short telomere syndromes cause age-related disease. However, whether long telomere …
short telomere syndromes cause age-related disease. However, whether long telomere …
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
The overwhelming majority of participants in current genetic studies are of European
ancestry. To elucidate disease biology in the East Asian population, we conducted a …
ancestry. To elucidate disease biology in the East Asian population, we conducted a …
Telomeres in cancer: tumour suppression and genome instability
J Maciejowski, T de Lange - Nature reviews Molecular cell biology, 2017 - nature.com
The shortening of human telomeres has two opposing effects during cancer development.
On the one hand, telomere shortening can exert a tumour-suppressive effect through the …
On the one hand, telomere shortening can exert a tumour-suppressive effect through the …
From melanocytes to melanomas
Melanomas on sun-exposed skin are heterogeneous tumours, which can be subtyped on
the basis of their cumulative levels of exposure to ultraviolet (UV) radiation. A melanocytic …
the basis of their cumulative levels of exposure to ultraviolet (UV) radiation. A melanocytic …
Melanoma
D Schadendorf, DE Fisher, C Garbe… - Nature reviews Disease …, 2015 - nature.com
Melanoma is a common cancer in the Western world with an increasing incidence. Sun
exposure is still considered to be the major risk factor for melanoma. The prognosis of …
exposure is still considered to be the major risk factor for melanoma. The prognosis of …
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis
genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly …
genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly …
Melanocytic nevi and melanoma: unraveling a complex relationship
WE Damsky, M Bosenberg - Oncogene, 2017 - nature.com
Approximately 33% of melanomas are derived directly from benign, melanocytic nevi.
Despite this, the vast majority of melanocytic nevi, which typically form as a result of BRAF …
Despite this, the vast majority of melanocytic nevi, which typically form as a result of BRAF …
Telomere-driven diseases and telomere-targeting therapies
Telomeres, the protective ends of linear chromosomes, shorten throughout an individual's
lifetime. Telomere shortening is proposed to be a primary molecular cause of aging. Short …
lifetime. Telomere shortening is proposed to be a primary molecular cause of aging. Short …