Stefan Bagheri‐Fam

Genes and gene defects affecting gonadal development and sex determination

Dagmar Wilhelm, Stefan Bagheri‐Fam

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Corrigendum: A role for TRPC3 in mammalian testis development

Zhenhua Ming, Stefan Bagheri‐Fam, Emily R. Frost, Janelle Ryan et autres

Corrigendum on: Ming, Z., Bagheri-Fam, S., Frost, E. R., Ryan, J. M., & Harley, V. R. (2024). A role for TRPC3 in mammalian testis development. Frontiers in Cell and Developmental Biology, 12, 1337714. https://doi.org/10.3389/fcell.2024.1337714In the published article, there was an error in …

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Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong et autres

ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects when Atrx was deleted in Sertoli cells (Sc Atrx KO) which displayed G2/M …

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Roles of TYRO3 Family Receptors in Germ Cell Development During Mouse Testis Formation

Zhenhua Ming, Stefan Bagheri‐Fam, Emily R. Frost, Janelle Ryan et autres

Structured Abstract Objective To investigate the role of a potential SOX9 target gene, Tyro3 , along with its family members, Axl and Mertk (TAM family) in mouse testis development. Design Experimental laboratory study. Setting Research institute units. Subject(s) Embryonic day (E)11.5 Swiss …

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A role for TRPC3 in mammalian testis development

Zhenhua Ming, Stefan Bagheri‐Fam, Emily R. Frost, Janelle Ryan et autres

SOX9 is a key transcription factor for testis determination and development. Mutations in and around the SOX9 gene contribute to Differences/Disorders of Sex Development (DSD). However, a substantial proportion of DSD patients lack a definitive genetic diagnosis. SOX9 target genes are potentially …

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Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

Nayla Leon Carlos, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong et autres

Abstract ATR-X ( al pha t halassemia, m ental r etardation, X -linked) syndrome is a severe developmental disorder affecting males caused by mutations in the chromatin remodelling gene ATRX . Genital abnormalities in affected boys include hypospadias and ambiguous genitalia, and …

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Somatic FGFR2 is Required for Germ Cell Maintenance in the Mouse Ovary

Anthony D. Bird, Emily R. Frost, Stefan Bagheri‐Fam, Brittany Croft et autres

During sex determination in the mouse, fibroblast growth factor 9 signals through the fibroblast growth factor receptor 2c isoform (FGFR2c) to trigger Sertoli cell and testis development from 11.5 days post coitum (dpc). In the XX gonad, the FOXL2 and WNT4/RSPO1 pathways …

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FGF9 variant in 46, XY DSD patient suggests a role for dimerization in sex determination

Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers et autres

Abstract 46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male‐to‐female sex reversal. Around 50% of 46,XY DSD cases receive a molecular diagnosis. In mice, Fibroblast growth factor 9 …

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SOX9 in organogenesis: shared and unique transcriptional functions

Zhenhua Ming, Brittany Vining, Stefan Bagheri‐Fam, Vincent R. Harley

The transcription factor SOX9 is essential for the development of multiple organs including bone, testis, heart, lung, pancreas, intestine and nervous system. Mutations in the human SOX9 gene led to campomelic dysplasia, a haploinsufficiency disorder with several skeletal malformations frequently accompanied by …

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Dataset of differentially expressed genes in mouse P12 testes in response to the loss of ATRX in Sertoli cells

Stefan Bagheri‐Fam, Dimuthu Alankarage, Emily R. Frost, Vincent R. Harley

This dataset represents genes that are dysregulated in the postnatal day 12 (P12) mouse testis when ATRX is specifically inactivated in Sertoli cells (ScAtrxKO mice). The differentially expressed genes included in the dataset may play important roles in the testicular phenotypes observed …

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Functional Analysis of Mmd2 and Related PAQR Genes During Sex Determination in Mice

Liang Zhao, Ella Thomson, Ee Ting Ng, Enya Longmuss et autres

INTRODUCTION: Sex determination in eutherian mammals is controlled by the Y-linked gene Sry, which drives the formation of testes in male embryos. Despite extensive study, the genetic steps linking Sry action and male sex determination remain largely unknown. Here, we focused on …

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FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination

Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers et autres

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