Renal effects of cullin 3 mutations causing familial hyperkalemic hypertension.
Sign Up to like & getrecommendations! Published in 2023 at "Current opinion in nephrology and hypertension"
DOI: 10.1097/mnh.0000000000000891
Abstract: PURPOSE OF REVIEW Mutations in the E3 ubiquitin ligase scaffold cullin 3 (CUL3) cause the disease familial hyperkalemic hypertension (FHHt) by hyperactivating the NaCl cotransporter (NCC). The effects of these mutations are complex and still… read more here.
Keywords: hypertension; familial hyperkalemic; hyperkalemic hypertension; cul3 mutations ... See more keywords
Cullin 3 and Blood Pressure Regulation: Insights From Familial Hyperkalemic Hypertension
Sign Up to like & getrecommendations! Published in 2023 at "Hypertension"
DOI: 10.1161/hypertensionaha.123.20525
Abstract: The study of rare monogenic forms of hypertension has led to the elucidation of important physiological pathways controlling blood pressure. Mutations in several genes cause familial hyperkalemic hypertension (also known as Gordon syndrome or pseudohypoaldosteronism… read more here.
Keywords: familial hyperkalemic; hyperkalemic hypertension; blood pressure; hypertension ... See more keywords
Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.
Sign Up to like & getrecommendations! Published in 2017 at "JCI insight"
DOI: 10.1172/jci.insight.96700
Abstract: Mutations in the ubiquitin ligase scaffold protein Cullin 3 (CUL3) cause the disease familial hyperkalemic hypertension (FHHt). In the kidney, mutant CUL3 (CUL3-Δ9) increases abundance of With-No-Lysine [K] Kinase 4 (WNK4), with excessive activation of… read more here.
Keywords: dominant effects; hyperkalemic hypertension; familial hyperkalemic; cul3 ... See more keywords