例如："lncRNA", "apoptosis", "WRKY"

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

Eur. J. Immunol.2020 Mar 17. doi:10.1002/eji.201948504. Epub 2020 Mar 17
Tim Niehues 1 , Tuba Turul Özgür 1 , Marie Bickes 2 , Rebekka Waldmann 3 , Jennifer Schöning 2 , Jan Bräsen 4 , Christian Hagel 5 , Matthias Ballmaier 6 , Jan-Henning Klusmann 7 , Alexandra Niedermayer 3 , Ulrich Pannicke 3 , Anselm Enders 8 , Gregor Dückers 1 , Kathrin Siepermann 1 , Julyia Hempel 2 , Klaus Schwarz 9 , Dorothee Viemann 2
Tim Niehues 1 , Tuba Turul Özgür 1 , Marie Bickes 2 , Rebekka Waldmann 3 , Jennifer Schöning 2 , Jan Bräsen 4 , Christian Hagel 5 , Matthias Ballmaier 6 , Jan-Henning Klusmann 7 , Alexandra Niedermayer 3 , Ulrich Pannicke 3 , Anselm Enders 8 , Gregor Dückers 1 , Kathrin Siepermann 1 , Julyia Hempel 2 , Klaus Schwarz 9 , Dorothee Viemann 2
+ et al

[No authors listed]

Author information
  • 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 Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • 8 Centre for Personalised Immunology, Australian National University, Canberra, Australian Capital Territory, Australia.
  • 9 Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg-Hessen, Ulm, Germany.

摘要

AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 and 2 (FNIP1, 2) modulate AMPK. FNIP1 deficiency patients have a AMPK-P gain of function phenotype with hypertrophic cardiomyopathy, Wolff-Parkinson-White pre-excitation syndrome, myopathy of skeletal muscles and combined immunodeficiency.

KEYWORDS: B cell development, cardiomyopathy, immunodeficiency, metabolism, myopathy

© 2017 biocloud.net版权所有 ICP证：京10042835号