Directed differentiation of human iPSCs to functional ovarian granulosa-like cells via transcription factor overexpression

MDP Smela, CC Kramme, PRJ Fortuna, JL Adams… - Elife, 2023 - elifesciences.org
An in vitro model of human ovarian follicles would greatly benefit the study of female
reproduction. Ovarian development requires the combination of germ cells and several …

Current progress on in vitro differentiation of ovarian follicles from pluripotent stem cells

GMJ Wu, ACH Chen, WSB Yeung… - Frontiers in Cell and …, 2023 - frontiersin.org
Mammalian female reproduction requires a functional ovary. Competence of the ovary is
determined by the quality of its basic unit–ovarian follicles. A normal follicle consists of an …

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 …

[HTML][HTML] Towards a “Testis in a Dish”: Generation of Mouse Testicular Organoids that Recapitulate Testis Structure and Expression Profiles

A Stopel, C Lev, S Dahari, O Adibi… - … Journal of Biological …, 2024 - ncbi.nlm.nih.gov
The testis is responsible for sperm production and androgen synthesis. Abnormalities in
testis development and function lead to disorders of sex development and male infertility …

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 …

Alternative splicing of CARM1 regulated by LincGET-guided paraspeckles biases the first cell fate in mammalian early embryos

J Wang, Y Zhang, J Gao, G Feng, C Liu, X Li… - Nature Structural & …, 2024 - nature.com
The heterogeneity of CARM1 controls first cell fate bias during early mouse development.
However, how this heterogeneity is established is unknown. Here, we show that Carm1 …

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

D Houzelstein, C Eozenou, CF Lagos, M Elzaiat… - Nature …, 2024 - nature.com
The Y-linked SRY gene initiates mammalian testis-determination. However, how the
expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved …

Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

GF Del Gobbo, X Wang, M Couse… - American Journal of …, 2024 - Wiley Online Library
Despite significant advancements in rare genetic disease diagnostics, many patients with
rare genetic disease remain without a molecular diagnosis. Novel tools and methods are …

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing …

I Martinez de Lapiscina, C Kouri, J Aurrekoetxea… - Plos one, 2023 - journals.plos.org
NR5A1/SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex
development (DSD) or may be found in healthy carriers. The NR5A1/SF-1 c. 437G> C/p …

Making human eggs in a dish: are we close?

ER Frost, RB Gilchrist - Trends in Biotechnology, 2024 - cell.com
In the space of 50 years, we have seen incredible achievements in human reproductive
medicine. With these leaps forward, it is no wonder that there is a major interest in women's …