Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

Clinical genetics - 1 Jun 2013

Zhang C, Zhu Y, Huang F, Jiang G, Chang J, Li R

Abstract excerpt

Clinical and genetic studies have suggested that a loss of function and gain of function mutation in the same gene can cause different diseases. The aim of this study was to test the hypothesis that inactivating mutations in WNK1 (with no K (lysine) protein kinase-1) or WNK4 could be a new candidate for causing hypokalemic salt-losing tubulopathy (SLT) in those patients with unknown genetic defects because SLT is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to HEK293 Cells
Share to Hypokalemia
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Confocal

Share to Minor Histocompatibility Antigens

Share to Protein Serine-Threonine Kinases

Share to Renal Tubular Transport, Inborn Errors

Share to WNK Lysine-Deficient Protein Kinase 1

Source

Identifiers

PMID: 22934535
DOI: 10.1111/cge.12008

Genes

WNK1
WNK4
CLCNKB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.PMID 22934535Read ↗

Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II.Semantic proximity Read ↗

Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations.Semantic proximity Read ↗

WNK kinases regulate thiazide-sensitive Na-Cl cotransport.Semantic proximity Read ↗

Role of WNK kinases in regulating tubular salt and potassium transport and in the development of hypertension.Semantic proximity Read ↗

Human hypertension caused by mutations in WNK kinases.Semantic proximity Read ↗

WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia.Semantic proximity Read ↗

With no lysine L-WNK1 isoforms are negative regulators of the K+-Cl- cotransporters.Semantic proximity Read ↗

Downregulation of NCC and NKCC2 cotransporters by kidney-specific WNK1 revealed by gene disruption and transgenic mouse modelsSemantic proximity Read ↗

WNK Kinases, Renal Ion Transport and HypertensionSemantic proximity Read ↗

Disease-causing mutations in the acidic motif of WNK4 impair the sensitivity of WNK4 kinase to calcium ions.Semantic proximity Read ↗

WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3.Semantic proximity Read ↗

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.