[HTML][HTML] Diverse monogenic subforms of human spermatogenic failure

L Nagirnaja, AM Lopes, WL Charng, B Miller… - Nature …, 2022 - nature.com
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most …

[HTML][HTML] Translational bioinformatics for human reproductive biology research: examples, opportunities and challenges for a future reproductive medicine

K Liu, Y Zhang, C Martin, X Ma, B Shen - International Journal of …, 2022 - mdpi.com
Since 1978, with the first IVF (in vitro fertilization) baby birth in Manchester (England), more
than eight million IVF babies have been born throughout the world, and many new …

[HTML][HTML] Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

A Heddar, C Ogur, S Da Costa, I Braham… - …, 2022 - thelancet.com
Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …

[HTML][HTML] Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure

A Riera-Escamilla, M Vockel, L Nagirnaja… - The American Journal of …, 2022 - cell.com
Although the evolutionary history of the X chromosome indicates its specialization in male
fitness, its role in spermatogenesis has largely been unexplored. Currently only three X …

[HTML][HTML] The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans

MJ Wyrwoll, CM Gaasbeek, I Golubickaite… - The American Journal of …, 2022 - cell.com
Infertility affects around 7% of the male population and can be due to severe spermatogenic
failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identified a …

Störungen der Spermato-und Spermiogenese

HC Schuppe, MJ Wyrwoll, D Fietz… - … : Grundlagen und Klinik …, 2022 - Springer
Einer Infertilität des Mannes liegen häufig anlagebedingte oder erworbene Störungen der
Spermato-und Spermiogenese zugrunde; entsprechende Einschränkungen der …

Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach

GS Holt, LE Batty, BKS Alobaidi, HE Smith… - Human …, 2022 - Wiley Online Library
De novo mutations (DNMs) play an important role in severe genetic disorders that reduce
fitness. To better understand their role in disease, it is important to determine the parent‐of …

The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis

RB Correia, JM Almeida, MJ Wyrwoll, I Julca, D Sobral… - bioRxiv, 2022 - biorxiv.org
Germ cells provide the cellular basis for sexual reproduction in multicellular animals. In
males, germ cells differentiate into sperm, one of the most morphologically diverse …