Associated Papers
Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
Orrego JJ et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.
Fagundes GFC et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Aberrant RNA methylation triggers recruitment of an alkylation repair complex.
Tsao N et al.
Molecular Cell, 2021
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
Mallet C et al.
Human Molecular Genetics, 2015
Suppression of retinal degeneration in Drosophila by stimulation of ER-associated degradation.
Kang MJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Mutations of the membrane-bound disulfide reductase DsbD that block electron transfer steps from cytoplasm to periplasm in Escherichia coli.
Cho SH et al.
Journal of Bacteriology, 2006
Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch.
Chen F et al.
The Journal of Biological Chemistry, 2002
Retinal degeneration caused by dominant rhodopsin mutations in Drosophila.
Kurada P et al.
Neuron, 1995
Isolation and analysis of novel mutants of Escherichia coli prlA (secY).
Olsen MK et al.
Journal of Bacteriology, 1993
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