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Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.
Clin Kidney J
August 2024
Department of Pediatrics, Clinical Sciences Lund, Lund University, Lund, Sweden.
Background: Genetic variants in are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin.
Methods: A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.
De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature.
J Paediatr Child Health
August 2021
Primary Immunodeficiencies Unit, Pediatrics, University Hospital 12 Octubre, Madrid, Spain.
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
J Allergy Clin Immunol
November 2020
Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Laboratory of Lymphocyte Signalling and Development, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom. Electronic address:
Background: The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations in SEC61A1 were reported to be pathogenic in common variable immunodeficiency and glomerulocystic kidney disease.
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