Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Familial Hyperkalemic Hypertension.
Cornelius RJ et al.
Comprehensive Physiology, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
Kelch-like protein 3 in human disease and therapy.
Lin Y et al.
Molecular Biology Reports, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).
Glover M et al.
Clinical Science (london, England : 1979), 2014
Decrease of WNK4 ubiquitination by disease-causing mutations of KLHL3 through different molecular mechanisms.
Mori Y et al.
Biochemical and Biophysical Research Communications, 2013
Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation.
Wu G et al.
Febs Letters, 2013
The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.
Ohta A et al.
The Biochemical Journal, 2013
Adaptor protein self-assembly drives the control of a cullin-RING ubiquitin ligase.
Errington WJ et al.
Structure (london, England : 1993), 2012
[KLHL3 and CULLIN-3: new genes involved in familial hypertension].
Louis-Dit-Picard H et al.
Medecine Sciences : M/s, 0
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