Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.L387P
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KLHL3

NM_017415.3:p.L387P

Associated Papers

Familial Hyperkalemic Hypertension.

Cornelius RJ et al.

Comprehensive Physiology, 2024

Identification of a novel KLHL3-interacting motif in the C-terminal region of WNK4.

Wang L et al.

Biochemical and Biophysical Research Communications, 2023

Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study.

Liu X et al.

Frontiers in Pediatrics, 2023

Kelch-like protein 3 in human disease and therapy.

Lin Y et al.

Molecular Biology Reports, 2022

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism.

Zhang R et al.

Bmc Endocrine Disorders, 2021

Hypertension Accompanied by Hyperaldosteronism, Hyperkalemia, and Hyperchloremic Acidosis: A Case Report and Literature Review.

Yang Y et al.

Case Reports in Endocrinology, 2020

Unveiling the Distinct Mechanisms by which Disease-Causing Mutations in the Kelch Domain of KLHL3 Disrupt the Interaction with the Acidic Motif of WNK4 through Molecular Dynamics Simulation.

Wang L et al.

Biochemistry, 2019

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.

Mitani M et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2016

Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation.

Schumacher FR et al.

The Biochemical Journal, 2014

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

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

Boyden LM et al.

Nature, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."