The molecular origins and pathophysiological consequences of micronuclei: New insights into an age-old problem

X Guo, J Ni, Z Liang, J Xue, MF Fenech… - … Research/Reviews in …, 2019 - Elsevier
Micronuclei (MN), the small nucleus-like bodies separated from the primary nucleus, can
exist in cells with numerical and/or structural chromosomal aberrations in apparently normal …

Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism

E Greco, P Yakovlev, N Kornilov, S Vyatkina… - Human …, 2023 - academic.oup.com
The health risks associated with transferring embryos classified as mosaic by
preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such …

[HTML][HTML] Somatic mutations provide important and unique insights into the biology of complex diseases

S Olafsson, CA Anderson - Trends in Genetics, 2021 - cell.com
Somatic evolution of cells within the body is well known to lead to cancers. However, spread
of somatic mutations within a tissue over time may also contribute to the pathogenesis of non …

Mosaicism in human health and disease

J Thorpe, IA Osei-Owusu, BE Avigdor… - Annual review of …, 2020 - annualreviews.org
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …

Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men

LA Forsberg - Human genetics, 2017 - Springer
Recent discoveries have shown that harboring cells without the Y chromosome in the
peripheral blood is associated with increased risk for all-cause mortality and disease such …

[HTML][HTML] Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

MJ Machiela, W Zhou, E Karlins, JN Sampson… - Nature …, 2016 - nature.com
To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP
microarray intensity data of 38,303 women from cancer genome-wide association studies …

Extreme downregulation of chromosome Y and cancer risk in men

A Cáceres, A Jene, T Esko… - JNCI: Journal of the …, 2020 - academic.oup.com
Background Understanding the biological differences between sexes in cancer is essential
for personalized treatment and prevention. We hypothesized that the extreme …

Causes and consequences of clonal hematopoiesis

LD Weeks, BL Ebert - Blood, 2023 - ashpublications.org
Clonal hematopoiesis (CH) is described as the outsized contribution of expanded clones of
hematopoietic stem and progenitor cells (HSPCs) to blood cell production. The prevalence …

GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

C Terao, Y Momozawa, K Ishigaki, E Kawakami… - Nature …, 2019 - nature.com
Mosaic loss of chromosome Y (mLOY) is frequently observed in the leukocytes of ageing
men. However, the genetic architecture and biological mechanisms underlying mLOY are …

Loss of Y chromosome in blood is associated with major cardiovascular events during follow-up in men after carotid endarterectomy

S Haitjema, D Kofink, J Van Setten… - Circulation …, 2017 - Am Heart Assoc
Background—Recent studies found an immune regulatory role for Y chromosome and a
relationship between loss of Y chromosome (LOY) in blood cells and a higher risk of cancer …