DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility-Reference-Cited by-同舟云学术

DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility

Published:2019-11-28 Issue:3 Volume:41 Page:608-618
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fiévet Alice¹²³⁴^ORCID,Bellanger Dorine¹²,Zahed Laila⁵,Burglen Lydie⁶⁷⁸⁹,Derrien Anne‐Céline¹²,Dubois d'Enghien Catherine³,Lespinasse James¹⁰,Parfait Béatrice¹¹,Pedespan Jean‐Michel¹²,Rieunier Guillaume¹²,Stoppa‐Lyonnet Dominique²³¹³,Stern Marc‐Henri¹²³^ORCID

Affiliation:

1. INSERM U830, Institut CuriePSL Research UniversityParis France

2. D.R.U.M. Team, INSERM U830Institut CurieParis France

3. Service de GénétiqueInstitut Curie HôpitalParis France

4. Service Génétique des TumeursGustave RoussyVillejuif France

5. Department of Clinical LaboratorySaint George Hospital University Medical CenterBeirut Lebanon

6. Centre de Référence desMalformations et Maladies Congénitales du CerveletParis France

7. GRC n°19, Pathologies Congénitales du Cervelet‐LeucoDystrophies, Hôpital Armand Trousseau (APHP)Sorbonne UniversitéParis France

8. INSERM U1141Université Paris DiderotParis France

9. Département de Génétique Médicale (GHUEP)Hôpital Armand Trousseau (APHP)Paris France

10. Génétique Chromosomique, Centre Hospitalier Metropole SavoieChambéry‐Hôtel‐DieuChambéry France

11. Centre de ressources Biologiques, Hôpital CochinAssistance Publique – Hôpitaux de ParisParis France

12. Unité de NeuropédiatrieCHU PellegrinBordeaux France

13. Université Paris Descartes, Sorbonne‐Paris‐CitéParis France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23955

Reference34 articles.

1. Phosphorylated CtIP Functions as a Co-factor of the MRE11-RAD50-NBS1 Endonuclease in DNA End Resection

2. ATM is a cytoplasmic protein in mouse brain required to prevent lysosomal accumulation

3. Nijmegen breakage syndrome (NBS)

4. Identification of the Interactors of Human Nibrin (NBN) and of Its 26 kDa and 70 kDa Fragments Arising from the NBN 657del5 Founder Mutation

5. Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models

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