Genetic control of typical and atypical sex development

AP Reyes, NY León, ER Frost, VR Harley - Nature Reviews Urology, 2023 - nature.com
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 …

Characterizing the bipotential mammalian gonad

S Nef, I Stévant, A Greenfield - Current topics in developmental biology, 2019 - Elsevier
Primary sex determination is the decision by which the bipotential embryonic gonad commits
to either the testicular or ovarian fate. The developing gonad constitutes a unique paradigm …

A clinical algorithm to diagnose differences of sex development

NY León, AP Reyes, VR Harley - The Lancet Diabetes & …, 2019 - thelancet.com
The diagnosis and management of children born with ambiguous genitalia is challenging for
clinicians. Such differences of sex development (DSDs) are congenital conditions in which …

The molecular pathways underlying early gonadal development

Y Yang, S Workman, MJ Wilson - Journal of molecular …, 2019 - jme.bioscientifica.com
The body of knowledge surrounding reproductive development spans the fields of genetics,
anatomy, physiology and biomedicine, to build a comprehensive understanding of the later …

New technologies to uncover the molecular basis of disorders of sex development

H Barseghyan, EC Délot, E Vilain - Molecular and cellular endocrinology, 2018 - Elsevier
The elegant developmental biology experiments conducted in the 1940s by French
physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo …

Translating genomics to the clinical diagnosis of disorders/differences of sex development

A Parivesh, H Barseghyan, E Délot, E Vilain - Current topics in …, 2019 - Elsevier
The medical and psychosocial challenges faced by patients living with
Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a …

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

A Chamberlin, R Huether, AZ Machado… - Human molecular …, 2019 - academic.oup.com
Missense mutations in the gene, MAP3K1, are a common cause of 46, XY gonadal
dysgenesis, accounting for 15–20% of cases [Ostrer, 2014, Disorders of sex development …

Genetics of human sexual development and related disorders

IM de LaPiscina, CE Flück - Current opinion in pediatrics, 2021 - journals.lww.com
Typical sex development relies on very complex biological events, which involve specific
interactions of a large number of genes and pathways in a defined spatiotemporal …

MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development

H Chen, Q Chen, Y Zhu, K Yuan, H Li, B Zhang… - Frontiers in …, 2022 - frontiersin.org
Background: 46, XY disorders/differences of sex development (46, XY DSD) are congenital
conditions that result from abnormal gonadal development (gonadal dysgenesis) or …

Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis

YJ Zhang, L Jimenez, S Azova, J Kremen… - European Journal of …, 2021 - nature.com
WNT2B is a member of the Wnt family, a group of signal transduction proteins involved in
embryologic development and stem cell renewal and maintenance. We recently reported …