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

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Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. / Niehues, Tim; Özgür, Tuba Turul; Bickes, Marie; Waldmann, Rebecca; Schöning, Jennifer; Bräsen, Jan; Hagel, Christian; Ballmaier, Matthias; Klusmann, Jan-Henning; Niedermayer, Alexandra; Pannicke, Ulrich; Enders, Anselm; Dückers, Gregor; Siepermann, Kathrin; Hempel, Julyia; Schwarz, Klaus; Viemann, Dorothee.

in: EUR J IMMUNOL, Jahrgang 50, Nr. 7, 07.2020, S. 1078-1080.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Andere (Vorworte u.ä.) › Forschung

Harvard

Niehues, T, Özgür, TT, Bickes, M, Waldmann, R, Schöning, J, Bräsen, J, Hagel, C, Ballmaier, M, Klusmann, J-H, Niedermayer, A, Pannicke, U, Enders, A, Dückers, G, Siepermann, K, Hempel, J, Schwarz, K & Viemann, D 2020, 'Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome', EUR J IMMUNOL, Jg. 50, Nr. 7, S. 1078-1080. https://doi.org/10.1002/eji.201948504

APA

Niehues, T., Özgür, T. T., Bickes, M., Waldmann, R., Schöning, J., Bräsen, J., Hagel, C., Ballmaier, M., Klusmann, J-H., Niedermayer, A., Pannicke, U., Enders, A., Dückers, G., Siepermann, K., Hempel, J., Schwarz, K., & Viemann, D. (2020). Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. EUR J IMMUNOL, 50(7), 1078-1080. https://doi.org/10.1002/eji.201948504

Vancouver

Niehues T, Özgür TT, Bickes M, Waldmann R, Schöning J, Bräsen J et al. Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. EUR J IMMUNOL. 2020 Jul;50(7):1078-1080. https://doi.org/10.1002/eji.201948504

Bibtex

@article{039a47c134ec42ff996f85763fca3bd1,
title = "Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome",
abstract = "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 = "Cardiomyopathies/genetics, Carrier Proteins/genetics, Female, Genes, Recessive, Humans, Immunologic Deficiency Syndromes/genetics, Male, Mutation, Pre-Excitation Syndromes/genetics",
author = "Tim Niehues and {\"O}zg{\"u}r, {Tuba Turul} and Marie Bickes and Rebecca Waldmann and Jennifer Sch{\"o}ning and Jan Br{\"a}sen and Christian Hagel and Matthias Ballmaier and Jan-Henning Klusmann and Alexandra Niedermayer and Ulrich Pannicke and Anselm Enders and Gregor D{\"u}ckers and Kathrin Siepermann and Julyia Hempel and Klaus Schwarz and Dorothee Viemann",
note = "{\textcopyright} 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.",
year = "2020",
month = jul,
doi = "10.1002/eji.201948504",
language = "English",
volume = "50",
pages = "1078--1080",
journal = "EUR J IMMUNOL",
issn = "0014-2980",
publisher = "Wiley-VCH Verlag GmbH",
number = "7",

}

RIS

TY - JOUR

T1 - Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome

AU - Niehues, Tim

AU - Özgür, Tuba Turul

AU - Bickes, Marie

AU - Waldmann, Rebecca

AU - Schöning, Jennifer

AU - Bräsen, Jan

AU - Hagel, Christian

AU - Ballmaier, Matthias

AU - Klusmann, Jan-Henning

AU - Niedermayer, Alexandra

AU - Pannicke, Ulrich

AU - Enders, Anselm

AU - Dückers, Gregor

AU - Siepermann, Kathrin

AU - Hempel, Julyia

AU - Schwarz, Klaus

AU - Viemann, Dorothee

N1 - © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

PY - 2020/7

Y1 - 2020/7

N2 - 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.

AB - 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.

KW - Cardiomyopathies/genetics

KW - Carrier Proteins/genetics

KW - Female

KW - Genes, Recessive

KW - Humans

KW - Immunologic Deficiency Syndromes/genetics

KW - Male

KW - Mutation

KW - Pre-Excitation Syndromes/genetics

U2 - 10.1002/eji.201948504

DO - 10.1002/eji.201948504

M3 - Other (editorial matter etc.)

C2 - 32181500

VL - 50

SP - 1078

EP - 1080

JO - EUR J IMMUNOL

JF - EUR J IMMUNOL

SN - 0014-2980

IS - 7

ER -