Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Sha** human telomeres: from shelterin and CST complexes to telomeric chromatin organization

CJ Lim, TR Cech - Nature Reviews Molecular Cell Biology, 2021 - nature.com
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 …

Familial clonal hematopoiesis in a long telomere syndrome

EA DeBoy, MG Tassia, KE Schratz… - … England Journal of …, 2023 - Mass Medical Soc
Background Telomere shortening is a well-characterized cellular aging mechanism, and
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

K Ishigaki, M Akiyama, M Kanai, A Takahashi… - Nature …, 2020 - nature.com
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 …

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 …

From melanocytes to melanomas

AH Shain, BC Bastian - nature reviews Cancer, 2016 - nature.com
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 …

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 …

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

MT Landi, DT Bishop, S MacGregor, MJ Machiela… - Nature …, 2020 - nature.com
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 …

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 …

Telomere-driven diseases and telomere-targeting therapies

P Martínez, MA Blasco - The Journal of cell biology, 2017 - pmc.ncbi.nlm.nih.gov
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 …