Dagmar Wilhelm

Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans.

Stefan Bagheri-Fam, Alexander N Combes, Cheuk K Ling, Dagmar Wilhelm

Journal article  |  2021  |  Human Molecular Genetics

Heterozygous mutations in the human SOX9 gene cause the skeletal malformation syndrome campomelic dysplasia which in 75% of 46, XY..

Identification of novel interacting partners of the NEDD4 ubiquitin ligase in mouse testis

JantinaA Manning, Simon P Windley, Jarrod J Sandow, Sonia S Shah, Patrick Western, Dagmar Wilhelm, Sharad Kumar

Journal article  |  2020  |  Journal of Proteomics

Posttranslational modification by ubiquitination targets proteins for degradation, recycling, stabilization or altered trafficking..

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm

Journal article  |  2020  |  PLoS One

Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individ..

A novel evolutionary conserved mechanism of RNA stability regulates synexpression of primordial germ cell-specific genes prior to the sex-determination stage in medaka

Amaury Herpin, Cornelia Schmidt, Susanne Kneitz, Clara Gobe, Martina Regensburger, Aurelie Le Cam, Jerome Montfort, Mateus C Adolfi, Christina Lillesaar, Dagmar Wilhelm, Michael Kraeussling, Brigitte Mourot, Beatrice Porcon, Maelle Pannetier, Eric Pailhoux, Laurence Ettwiller, Dirk Dolle, Yann Guiguen, Manfred Schartl

Journal article  |  2019  |  PLOS BIOLOGY

Dynamic expression patterns of Irx3 and Irx5 during germline nest breakdown and primordial follicle formation promote follicle survival in mouse ovaries

Anqi Fu, Sydney M Oberholtzer, Stefan Bagheri-Fam, Raphael H Rastetter, Claire Holdreith, Valeria L Caceres, Steven V John, Sarah A Shaw, Kathleen J Krentz, Xiaoyun Zhang, Chi-chung Hui, Dagmar Wilhelm, Joan S Jorgensen

Journal article  |  2018  |  PLOS GENETICS

The impact of new technologies in our understanding of testis formation and function

Serge Nef, Dagmar Wilhelm

Journal article  |  2018  |  Molecular and Cellular Endocrinology

Mutations in the HMGCS2 gene are associated with disorders of sex development

Stefan Bagheri-Fam, Michelle Wong, Sean Wilson, Katie Ayers, Raphael Rastetter, Paul Thomas, Serge Nef, Paulino Gomez-Puertas, Beatriz Puisac, Mar-A Hernandez-Marcos, Sergio Gil-Clavero, Juan Pie, Andrew Sinclair, Dagmar Wilhelm

Conference Proceedings  |  2018  |  CLINICAL ENDOCRINOLOGY

Sox5 is involved in germ-cell regulation and sex determination in medaka following co-option of nested transposable elements

Manfred Schartl, Susanne Schories, Yuko Wakamatsu, Yusuke Nagao, Hisashi Hashimoto, Chloe Bertin, Brigitte Mourot, Cornelia Schmidt, Dagmar Wilhelm, Lazaro Centanin, Yann Guiguen, Amaury Herpin

Journal article  |  2018  |  BMC BIOLOGY

Genes and gene defects affecting gonadal development and sex determination

D Wilhelm, S Bagheri-Fam

Book Chapter  |  2018

Genetic mechanisms of sex determination

D Wilhelm, AJ Pask

Book Chapter  |  2018