Sperm defects in primary ciliary dyskinesia and related causes of male infertility

A Sironen, A Shoemark, M Patel, MR Loebinger… - Cellular and Molecular …, 2020 - Springer
The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord, DJ McMullan, RY Eberhardt, G Rinck… - The Lancet, 2019 - thelancet.com
Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

Major regulatory mechanisms involved in sperm motility

R Pereira, R Sá, A Barros, M Sousa - Asian Journal of Andrology, 2017 - journals.lww.com
The genetic bases and molecular mechanisms involved in the assembly and function of the
flagellum components as well as in the regulation of the flagellar movement are not fully …

Integrated modeling of the Nexin-dynein regulatory complex reveals its regulatory mechanism

A Ghanaeian, S Majhi, CL McCafferty, B Nami… - Nature …, 2023 - nature.com
Cilia are hairlike protrusions that project from the surface of eukaryotic cells and play key
roles in cell signaling and motility. Ciliary motility is regulated by the conserved nexin-dynein …

Morphological and molecular bases of male infertility: a closer look at sperm flagellum

R Pereira, M Sousa - Genes, 2023 - mdpi.com
Infertility is a major health problem worldwide without an effective therapy or cure. It is
estimated to affect 8–12% of couples in the reproductive age group, equally affecting both …

Genomic imprinting-like monoallelic paternal expression determines sex of channel catfish

W Wang, Y Yang, S Tan, T Zhou, Y Liu, C Tian… - Science …, 2022 - science.org
The X and Y chromosomes of channel catfish have the same gene contents. Here, we report
allelic hypermethylation of the X chromosome within the sex determination region (SDR) …

The X chromosome and male infertility

M Vockel, A Riera-Escamilla, F Tüttelmann, C Krausz - Human Genetics, 2021 - Springer
The X chromosome is a key player in germ cell development, as has been highlighted for
males in previous studies revealing that the mammalian X chromosome is enriched in genes …

[HTML][HTML] Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences

R Pereira, T Barbosa, AL Cardoso, R Sá, M Sousa - Respiratory medicine, 2023 - Elsevier
Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are both rare chronic diseases,
inherited disorders associated with multiple complications, namely respiratory …

Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis

Y Sha, W Liu, S Li, LV Osadchuk, Y Chen, H Nie… - …, 2023 - thelancet.com
Background Asthenozoospermia is the primary cause of male infertility; however, its genetic
aetiology remains poorly understood. Adenylate kinase 9 (AK9) is highly expressed in the …