Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome-Reference-Cited by-同舟云学术

Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome

Published:2020-04-20 Issue:7 Volume:50 Page:1078-1080
ISSN:0014-2980
Container-title:European Journal of Immunology
language:en
Short-container-title:Eur. J. Immunol.

Author:

Niehues Tim¹^ORCID,Özgür Tuba Turul¹,Bickes Marie²,Waldmann Rebekka³,Schöning Jennifer²,Bräsen Jan⁴,Hagel Christian⁵,Ballmaier Matthias⁶,Klusmann Jan‐Henning⁷⁸,Niedermayer Alexandra³,Pannicke Ulrich³,Enders Anselm⁹¹⁰,Dückers Gregor¹,Siepermann Kathrin¹,Hempel Julyia²,Schwarz Klaus³¹¹,Viemann Dorothee²^ORCID

Affiliation:

1. Centre for Child and Adolescent Health HELIOS Klinikum Krefeld Germany

2. Department of Pediatric Pneumology, Allergology and Neonatology Hannover Medical School Hannover Germany

3. Institute for Transfusion Medicine University of Ulm Ulm Germany

4. Institute for Pathology, Nephropathology Section Hannover Medical School Hamburg Germany

5. Institute of Neuropathology University Medical Center Hamburg‐Eppendorf Hamburg Germany

6. Central Research Facility Cell Sorting Hannover Medical School Hannover Germany

7. Pediatric Hematology and Oncology Martin‐Luther‐University Halle‐Wittenberg Halle Germany

8. Department of Pediatric Hematology and Oncology Hannover Medical School Hannover Germany

9. Department of Immunology and Infectious Disease John Curtin School of Medical Research Canberra Australian Capital Territory Australia

10. Centre for Personalised Immunology Australian National University Canberra Australian Capital Territory Australia

11. Institute for Clinical Transfusion Medicine and Immunogenetics Ulm German Red Cross Blood Service Baden‐Wuerttemberg‐Hessen Ulm Germany

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Immunology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/eji.201948504

Reference10 articles.

1. Regulation and function of AMPK in physiology and diseases

2. AMP-Activated Protein Kinase and Host Defense against Infection

3. Disruption of Fnip1 Reveals a Metabolic Checkpoint Controlling B Lymphocyte Development

4. Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn

5. Analysis of protein-coding genetic variation in 60,706 humans

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