Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

L Kasak, M Laan - Human genetics, 2021 - Springer
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …

MCM8-mediated mitophagy protects vascular health in response to nitric oxide signaling in a mouse model of Kawasaki disease

M Lin, H Xian, Z Chen, S Wang, M Liu… - Nature Cardiovascular …, 2023 - nature.com
Mitophagy is a major quality control pathway that removes unwanted or dysfunctional
mitochondria and plays an essential role in vascular health. Here we show that MCM8 …

A multi-functional role for the MCM8/9 helicase complex in maintaining fork integrity during replication stress

WC Griffin, DR McKinzey, KN Klinzing… - Nature …, 2022 - nature.com
Abstract The minichromosome maintenance (MCM) 8/9 helicase is a AAA+ complex
involved in DNA replication-associated repair. Despite high sequence homology to the …

[HTML][HTML] Loss of the abasic site sensor HMCES is synthetic lethal with the activity of the APOBEC3A cytosine deaminase in cancer cells

J Biayna, I Garcia-Cao, MM Álvarez, M Salvadores… - PLoS …, 2021 - journals.plos.org
Analysis of cancer mutagenic signatures provides information about the origin of mutations
and can inform the use of clinical therapies, including immunotherapy. In particular …

MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage

JW Huang, A Acharya, A Taglialatela… - Nature …, 2020 - nature.com
Homologous recombination (HR) mediates the error-free repair of DNA double-strand
breaks to maintain genomic stability. Here we characterize C17orf53/MCM8IP, an OB-fold …

Expression and prognostic value of MCM family genes in osteosarcoma

J Zhou, M Wang, Z Zhou, W Wang, J Duan… - Frontiers in molecular …, 2021 - frontiersin.org
We performed a detailed cancer VS normal analysis to explore the expression and
prognostic value of minichromosome maintenance (MCM) proteinsin human sarcoma. The …

Replication dynamics of recombination-dependent replication forks

K Naiman, E Campillo-Funollet, AT Watson… - Nature …, 2021 - nature.com
Replication forks restarted by homologous recombination are error prone and replicate both
strands semi-conservatively using Pol δ. Here, we use polymerase usage sequencing to …

Signaling pathways involved in cell cycle arrest during the DNA breaks

F Sadoughi, J Hallajzadeh, Z Asemi, MA Mansournia… - DNA repair, 2021 - Elsevier
Our genome bears tens of thousands of harms and devastations per day; In this regard,
numerous sophisticated and complicated mechanisms are embedded by our cells in …

DNA replication: Mechanisms and therapeutic interventions for diseases

HY Song, R Shen, H Mahasin, YN Guo, DG Wang - MedComm, 2023 - Wiley Online Library
Accurate and integral cellular DNA replication is modulated by multiple replication‐
associated proteins, which is fundamental to preserve genome stability. Furthermore …