[HTML][HTML] Germline risk of clonal haematopoiesis

AJ Silver, AG Bick, MR Savona - Nature Reviews Genetics, 2021 - nature.com
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with
somatic mutations that is associated with an increased risk of haematological malignancies …

Clonal hematopoiesis, somatic mosaicism, and age-associated disease

MA Evans, K Walsh - Physiological Reviews, 2023 - journals.physiology.org
Somatic mosaicism, the occurrence of multiple genetically distinct cell clones within the
same tissue, is an evitable consequence of human aging. The hematopoietic system is no …

[HTML][HTML] Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

PR Loh, G Genovese, RE Handsaker, HK Finucane… - Nature, 2018 - nature.com
The selective pressures that shape clonal evolution in healthy individuals are largely
unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb …

Genetic predisposition to mosaic Y chromosome loss in blood

DJ Thompson, G Genovese, J Halvardson, JC Ulirsch… - Nature, 2019 - nature.com
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …

[PDF][PDF] Loss of KDM6A activates super-enhancers to induce gender-specific squamous-like pancreatic cancer and confers sensitivity to BET inhibitors

J Andricovich, S Perkail, Y Kai, N Casasanta, W Peng… - Cancer cell, 2018 - cell.com
Summary KDM6A, an X chromosome-encoded histone demethylase and member of the
COMPASS-like complex, is frequently mutated in a broad spectrum of malignancies and …

Chromosomal alterations among age-related haematopoietic clones in Japan

C Terao, A Suzuki, Y Momozawa, M Akiyama… - Nature, 2020 - nature.com
The extent to which the biology of oncogenesis and ageing are shaped by factors that
distinguish human populations is unknown. Haematopoietic clones with acquired mutations …

[PDF][PDF] Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length

C Li, S Stoma, LA Lotta, S Warner, E Albrecht… - The American Journal of …, 2020 - cell.com
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we
perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed …

[PDF][PDF] A clinical-grade HLA haplobank of human induced pluripotent stem cells matching approximately 40% of the Japanese population

S Yoshida, TM Kato, Y Sato, M Umekage, T Ichisaka… - Med, 2023 - cell.com
Background Human induced pluripotent stem cells (iPSCs) are expected to be useful for
regenerative medicine for many diseases. Many researchers have focused on and enabled …

Monogenic and polygenic inheritance become instruments for clonal selection

PR Loh, G Genovese, SA McCarroll - Nature, 2020 - nature.com
Clonally expanded blood cells that contain somatic mutations (clonal haematopoiesis) are
commonly acquired with age and increase the risk of blood cancer,,,,,,,–. The blood clones …