Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency-Reference-Cited by-同舟云学术

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

Published:2022-07-29 Issue:10 Volume:43 Page:1443-1453
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tucker Elena J.¹²^ORCID,Gutfreund Niklas³,Belaud‐Rotureau Marc‐Antoine⁴⁵⁶,Gilot David⁶⁷,Brun Tiffany⁶⁸,Kline Brianna L.¹,Bell Katrina M.⁹,Domin‐Bernhard Mathilde⁸,Théard Camille¹⁰,Touraine Philippe¹¹,Robevska Gorjana¹,van van den Bergen Jocelyn¹,Ayers Katie L.¹²^ORCID,Sinclair Andrew H.¹²,Dötsch Volker³,Jaillard Sylvie⁵⁶^ORCID

Affiliation:

1. Reproductive Development, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia

2. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

3. Biochemistry, Chemistry and Pharmacy, Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance Goethe University Frankfurt Germany

4. Department of Reproductive Biology Rennes University Hospital Rennes France

5. Institut de recherche en sante, environnement et travail (IRSET), Rennes University Rennes University Hospital Rennes France

6. Cytogenetics and Cell Biology Department Rennes University Hospital Rennes France

7. Centre de lutte contre le cancer Eugène Marquis (COSS), INSERM Rennes University Rennes France

8. Département de Gynécologie Obstétrique et Reproduction Humaine CHU Rennes Rennes France

9. Bioinformatics, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia

10. Service de Génétique Clinique, Reference centre for developmental anomalies and malformation syndromes (CLAD Ouest) Rennes University Hospital Rennes CLAD Ouest France

11. Department of Endocrinology and Reproductive Medicine, AP‐HP, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Centre des Pathologies Gynécologiques Rares Sorbonne University Medicine Paris France

Funder

Deutsche Forschungsgemeinschaft

National Health and Medical Research Council

Université de Rennes 1

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24432

Reference21 articles.

1. High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function