Genetic control of typical and atypical sex development
Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …
[HTML][HTML] Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
C Kouri, G Sommer, IM de Lapiscina, RN Elzenaty… - …, 2024 - thelancet.com
Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …
Nuclear receptor gene variants underlying disorders/differences of sex development through abnormal testicular development
A Hattori, M Fukami - Biomolecules, 2023 - mdpi.com
Gonadal development is the first step in human reproduction. Aberrant gonadal
development during the fetal period is a major cause of disorders/differences of sex …
development during the fetal period is a major cause of disorders/differences of sex …
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
FR de Oliveira, TN Mazzola, MP de Mello… - Life, 2023 - mdpi.com
The group of disorders known as 46, XY gonadal dysgenesis (GD) is characterized by
anomalies in testis determination, including complete and partial GD (PGD) and testicular …
anomalies in testis determination, including complete and partial GD (PGD) and testicular …
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study
R Naamneh Elzenaty… - The Journal of …, 2024 - academic.oup.com
Abstract Context Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates
sex development, steroidogenesis and reproduction. Genetic variants in NR5A1/SF-1 are …
sex development, steroidogenesis and reproduction. Genetic variants in NR5A1/SF-1 are …
[HTML][HTML] NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor
R Naamneh Elzenaty, C Kouri… - International Journal of …, 2024 - mdpi.com
Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and
reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum of …
reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum of …
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor to Reveal a Complex DSD Phenotype
RN Elzenaty, C Kouri, IM de Lapiscina, KS Sauter… - 2024 - preprints.org
Abstract Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis
and reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum …
and reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum …
POI Culprit Is POSSIBLY Gene Mutation: A Literature Review
C Miao, Q Fang, Q Kang, J He - 2024 - preprints.org
This review article delves into the multifaceted nature of primary ovarian insufficiency (POI),
a condition marked by diminished ovarian function before age 40, underscoring the …
a condition marked by diminished ovarian function before age 40, underscoring the …