The Molecular Genetics of Gordon Syndrome - PMC - PubMed …
Mutations in WNK1, WNK4, KLHL3, and CUL3 all result in the accumulation of WNK-kinase 4 and subsequent hypertension, hyperkalaemia, and metabolic acidosis. This review explains the clinical aspects, disease mechanisms, and molecular genetics of Gordon syndrome.
The Molecular Genetics of Gordon Syndrome - PubMed
2019年11月29日 · WNK-kinase 1 has an inhibitory action on WNK-kinase 4. Mutations in WNK1, WNK4, KLHL3, and CUL3 all result in the accumulation of WNK-kinase 4 and subsequent hypertension, hyperkalaemia, and metabolic acidosis. This review explains the clinical aspects, disease mechanisms, and molecular genetics of Gordon syndrome.
The Molecular Genetics of Gordon Syndrome - MDPI
2019年11月29日 · Mutations in WNK1, WNK4, KLHL3, and CUL3 all result in the accumulation of WNK-kinase 4 and subsequent hypertension, hyperkalaemia, and metabolic acidosis. This review explains the clinical aspects, disease mechanisms, and molecular genetics of Gordon syndrome.
Gordon Syndrome - an overview | ScienceDirect Topics
Gordon syndrome is a rare autosomal dominant genetic disorder caused by mutations of the WNK1, WNK3, WNK4, KLHL3 and CUL3 genes in the distal collecting duct of the kidney causing overactive NCC, leading to excessive sodium and chloride reabsorption in the distal convoluted tubule with intravascular volume expansion and HTN [53].
Gordon Syndrome: a continuing story | Pediatric Nephrology
2014年12月11日 · However, mutations in WNK1/4 are present in a small minority of GS families, and further genes have emerged (CUL3 and KLHL3) that code for Cullin-3 (a scaffold protein in an ubiquitin–E3 ligase) and an adaptor protein, Kelch3, respectively. These new players regulate the ubiquitination and proteasomal degradation of WNK kinases, thereby ...
The WNK1 and WNK4 protein kinases that are mutated in Gordon…
Mutations in the human genes encoding WNK1 [with no K (lysine) protein kinase-1] and the related protein kinase WNK4 are the cause of Gordon's hypertension syndrome. Little is known about the molecular mechanism by which WNK isoforms regulate ...
The Molecular Genetics of Gordon Syndrome - ResearchGate
2019年11月29日 · WNK-kinase 1 has an inhibitory action on WNK-kinase 4. Mutations in WNK1, WNK4, KLHL3, and CUL3 all result in the accumulation of WNK-kinase 4 and subsequent hypertension,...
Genotype–phenotype correlation in Gordon’s syndrome
2021年6月5日 · We report and discuss phenotypic and genetic heterogeneity of two patients with Gordon’s syndrome carrying novel heterozygous mutations in the WNK1 and KLHL3 genes. A very rare variant in the SCNN1G gene encoding the γ subunit of epithelial sodium channel ENaC was also identified in one patient.
Gordon's syndrome, also known as Pseudohypoaldosteronism, that is type II (PHAII), is a genetic disorder that affects the amount of sodium and potassium in the body. People with Gordon...
The CUL3-KLHL3 E3 ligase complex mutated in Gordon's ... - PubMed
2013年4月1日 · These results suggest that the CUL3-KLHL3 E3 ligase complex regulates blood pressure via its ability to interact with and ubiquitylate WNK isoforms. The findings of the present study also emphasize that the missense mutations in WNK4 that cause Gordon's syndrome strongly inhibit interaction with KLHL3.
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