Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis-Reference-Cited by-同舟云学术

Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

Published:2017-03-19 Issue:6 Volume:91 Page:902-907
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Weisz Hubshman M.¹²³,Basel-Vanagaite L.¹²³⁴,Krauss A.⁵,Konen O.⁶,Levy Y.³⁷,Garty B.Z.³⁴⁷,Smirin-Yosef P.⁴⁸,Maya I.²,Lagovsky I.³,Taub E.²,Marom D.¹²³,Gaash D.⁹,Shichrur K.⁹,Avigad S.³⁴⁹,Hayman-Manzur L.³¹⁰,Villa A.¹¹¹²,Sobacchi C.¹¹¹²,Shohat M.³¹³¹⁴,Yaniv I.³⁵,Stein J.³⁵

Affiliation:

1. Pediatric Genetics Unit; Schneider Children's Medical Center of Israel; Petach Tikva Israel

2. Raphael Recanati Genetic Institute; Rabin Medical Center; Petach Tikva Israel

3. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

4. Felsenstein Medical Research Center; Petach Tikva Israel

5. Bone Marrow Transplantation Unit; Schneider Children's Medical Center of Israel; Petach Tikva Israel

6. Radiology Unit; Schneider Children's Medical Center of Israel; Petach Tikva Israel

7. Kipper Institute of Immunology; Schneider Children's Medical Center of Israel; Petach Tikva Israel

8. Genomic Bioinformatics Laboratory, Department of Molecular Biology; Ariel University; Ariel Israel

9. Hemato-Oncology Department; Schneider Children's Medical Center of Israel; Petach Tikva Israel

10. Pathology Department; Rabin Medical Center; Petach Tikva Israel

11. CNR/IRGB, UOS Milan Unit; Milan Italy

12. Humanitas Clinical and Research Center; Milan Italy

13. Bioinformatics Unit, Cancer Center; Sheba Medical Center; Tel Aviv Israel

14. Genetic Institute; Maccabi Megalab; Rehovot Israel

Funder

Giovani Ricercatori from Ministero della Salute

European Community's Seventh Framework Program

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12916/fullpdf

Reference19 articles.

1. Osteopetrosis: genetics, treatment and new insights into osteoclast function;Sobacchi;Nat Rev Endocrinol,2013

2. Hematopoietic stem cell transplantation for infantile osteopetrosis;Orchard;Blood,2015

3. Osteoclast differentiation independent of the TRANCE-Rank-TRAF6 axis;Kim;J Exp Med,2005

4. The TRAF6 ubiquitin ligase and TAK1 mediate IKK activation by BCL10 and MALT1 in T lymphocytes;Sun;Mol Cell,2004

5. Characterization of the roles of TNF receptor-associated factor 6 in CD40-mediated B lymphocyte effector functions;Jalukar;J Immunol,2000

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