ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

Autor: Agnieszka Malcher, Zuzanna Graczyk, Hermann Bauer, Tomasz Stokowy, Andrea Berman, Mikołaj Smolibowski, Dominika Blaszczyk, Piotr Jedrzejczak, Alexander N. Yatsenko, Maciej Kurpisz

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)

Abstract Infertility is a problem that affects approximately 15% of couples, and male infertility is responsible for 40–50% of these cases. The cause of male infertility is still poorly diagnosed and treated. One of the prominent causes of male inf

Externí odkaz: https://doaj.org/article/3d4d30706a7146169ea59dfc53471e2b

Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers—Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR): Molecular Cytogenetic Analysis

Autor: Marta Olszewska, Tomasz Stokowy, Nijole Pollock, Nataliya Huleyuk, Andrew Georgiadis, Svetlana Yatsenko, Danuta Zastavna, Alexander N. Yatsenko, Maciej Kurpisz

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 12, p 4559 (2020)

Structural aberrations involving more than two breakpoints on two or more chromosomes are known as complex chromosomal rearrangements (CCRs). They can reduce fertility through gametogenesis arrest developed due to disrupted chromosomal pairing in the

Externí odkaz: https://doaj.org/article/c518e0c0fe0b4b369541ffc84c56e2d6

Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia

Autor: Agnieszka Malcher, Tomasz Stokowy, Andrea Berman, Marta Olszewska, Piotr Jedrzejczak, Dawid Sielski, Adam Nowakowski, Natalia Rozwadowska, Alexander N. Yatsenko, Maciej K. Kurpisz

Publikováno v: Andrology

Background: Genetic causes that lead to spermatogenetic failure in patients with nonobstructive azoospermia (NOA) have not been yet completely established. Objective: To identify low-frequency NOA-associated single nucleotide variants (SNVs) using wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ed1dc809b8aad8c7c89250c79a1897
https://hdl.handle.net/11250/3045447

GCNA preserves genome integrity and fertility across species

Autor: Courtney D. Goldstein, Rahul K. Kollipara, Michael Buszczak, Kim Orth, Murtaza Ahmed, Kelly A. Servage, Amanda K. Casey, James F. Amatruda, Ralf Kittler, Wei Li, Zachary Picciarelli, Varsha Bhargava, Alexander N. Yatsenko, Logan Russell, Judith L. Yanowitz, Michelle A. Carmell, Lin Xu

Publikováno v: Dev Cell

SUMMARYThe propagation of species depends on the ability of germ cells to protect their genome in the face of numerous exogenous and endogenous threats. While these cells employ a number of known repair pathways, specialized mechanisms that ensure hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044c2f30ef9f21bd12489963fed96110
https://europepmc.org/articles/PMC6946843/

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

Autor: Rubina Nazli, Carlos A. Castro, Sulman Basit, Aleksandar Rajkovic, Muhammad Jaseem Khan, Alexander N. Yatsenko, Jawad Ahmed, Huaiyang Jiang, Nijole Pollock

Publikováno v: Scientific reports, vol 8, iss 1
Scientific Reports
Khan, Muhammad Jaseem; Pollock, Nijole; Jiang, Huaiyang; Castro, Carlos; Nazli, Rubina; Ahmed, Jawad; et al.(2018). X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. SCIENTIFIC REPORTS, 8(1), 16280. doi: 10.1038/s41598-018-34262-5. UCSF: Retrieved from: http://www.escholarship.org/uc/item/4jq4w51c
Scientific Reports, Vol 8, Iss 1, Pp 1-7 (2018)

We performed whole exome sequencing to identify an unknown genetic cause of azoospermia and male infertility in a large Pakistani family. Three infertile males were subjected to semen analysis, hormone testing, testicular histology, ultrasonography,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe4b76be5218674e8e4aa48428c8f979
https://escholarship.org/uc/item/4jq4w51c