De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …

De novo mutations reflect development and aging of the human germline

JM Goldmann, JA Veltman, C Gilissen - Trends in Genetics, 2019 - cell.com
Human germline de novo mutations (DNMs) are both a driver of evolution and an important
cause of genetic diseases. In the past few years, whole-genome sequencing (WGS) of …

Melatonin Attenuates Chromium (VI)-Induced Spermatogonial Stem Cell/Progenitor Mitophagy by Restoration of METTL3-Mediated RNA N6-Methyladenosine …

Y Lv, T Li, M Yang, L Su, Z Zhu, S Zhao… - Frontiers in Cell and …, 2021 - frontiersin.org
Spermatogonial stem cells (SSCs) are the basis of spermatogenesis, and any damage to
SSCs may result in spermatogenic disorder and male infertility. Chromium (Cr)(VI) is a …

Frequency, morbidity and equity—the case for increased research on male fertility

S Kimmins, RA Anderson, CLR Barratt… - Nature Reviews …, 2024 - nature.com
Currently, most men with infertility cannot be given an aetiology, which reflects a lack of
knowledge around gamete production and how it is affected by genetics and the …

Sperm bauplan and function and underlying processes of sperm formation and selection

ME Teves, ERS Roldan - Physiological Reviews, 2022 - journals.physiology.org
The spermatozoon is a highly differentiated and polarized cell, with two main structures: the
head, containing a haploid nucleus and the acrosomal exocytotic granule, and the flagellum …

A single-cell view of spermatogonial stem cells

K Tan, MF Wilkinson - Current opinion in cell biology, 2020 - Elsevier
Spermatogonial stem cells (SSCs) are essential for long-term spermatogenesis and are the
subject of considerable clinical interest, as 'SSC therapy'has the potential to cure some …

Human spermatogonial stem cells and their niche in male (in) fertility: novel concepts from single-cell RNA-sequencing

S Di Persio, N Neuhaus - Human Reproduction, 2023 - academic.oup.com
The amount of single-cell RNA-sequencing (scRNA-seq) data produced in the field of
human male reproduction has steadily increased. Transcriptional profiles of thousands of …

Multiomics analysis of male infertility

X Wu, L Zhou, J Shi, CY Cheng, F Sun - Biology of reproduction, 2022 - academic.oup.com
Abstract Infertility affects 8–12% of couples globally, and the male factor is a primary cause
in~ 50% of couples. Male infertility is a multifactorial reproductive disorder, which can be …

Sertoli cell and spermatogonial development in pigs

Y Zheng, Q Gao, T Li, R Liu, Z Cheng, M Guo… - Journal of Animal …, 2022 - Springer
Background Spermatogenesis is an intricate developmental process during which
undifferentiated spermatogonia, containing spermatogonial stem cells (SSCs), undergo self …

Single-cell RNA sequencing reveals transcriptomic landscape and potential targets for human testicular ageing

K **a, P Luo, J Yu, S He, L Dong, F Gao… - Human …, 2024 - academic.oup.com
STUDY QUESTION What is the molecular landscape underlying the functional decline of
human testicular ageing? SUMMARY ANSWER The present study provides a …