Modulating vertebrate physiology by genomic fine-tuning of GPCR functions

T Schöneberg - Physiological Reviews, 2025 - journals.physiology.org
G protein-coupled receptors (GPCRs) play a crucial role as membrane receptors, facilitating
the communication of eukaryotic species with their environment and regulating cellular and …

Genomic technologies and the diagnosis of 46, XY differences of sex development

F Idris, AH Sinclair, KL Ayers - Andrology, 2024 - Wiley Online Library
Differences/disorders of sex development can be caused by disruptions to the molecular
and cellular mechanisms that control development and sex determination of the …

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis

H Syryn, J Van de Velde, G De Clercq… - Human …, 2024 - academic.oup.com
Abstract STUDY QUESTION Does RXFP2 disruption impair male fertility? SUMMARY
ANSWER We identified biallelic variants in RXFP2 in patients with male infertility due to …

Cryptorchidism and testicular cancer in the dog: unresolved questions and challenges in translating insights from human studies

S Soto-Heras, L Reinacher, B Wang, JE Oh… - Biology of …, 2024 - academic.oup.com
Cryptorchidism, the failure of one or both testes to descend into the scrotum, and testicular
cancer show a strong correlation in both dogs and humans. Yet, long-standing medical …

Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant …

L Ruan, M Gu, H Geng, Z Duan, H Yu, Z Shao… - Journal of Assisted …, 2024 - Springer
Purpose To identify the genetic cause of a cryptorchidism patient carrying a non-canonical
splicing variant highlighted by SPCards platform in RXFP2 and to provide a comprehensive …

External pressure induced the dysfunction of Sertoli cells via the Fas/FasL signaling pathway

Y Liu, H Long, Q Sun, D Zhang, J Zheng… - Systems Biology in …, 2024 - Taylor & Francis
Cryptorchidism, a condition where the testis fails to fully descend into the scrotum during
development, is associated with elevated environmental temperatures and pressures …

[PDF][PDF] Investigation of genetic causes in non-obstructive azoospermic patients

B Dural, I Gecit, E Aykanli, C Ekici, F Oguz… - Journal of Men's …, 2025 - oss.jomh.org
Background: Male factor infertility is a health problem that affects millions of couples around
the world. Male factor infertility is responsible for approximately more than half of all cases of …