A molecular update on pseudohypoaldosteronism type II

scientific article

A molecular update on pseudohypoaldosteronism type II is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1152/AJPRENAL.00440.2013
P698PubMed publication ID24107425

P2093author name stringG. Pathare
J. G. J. Hoenderop
P. San-Cristobal
R. J. M. Bindels
P2860cites workCharacterization of Mayven, a novel actin-binding protein predominantly expressed in brainQ22010235
MO25 is a master regulator of SPAK/OSR1 and MST3/MST4/YSK1 protein kinasesQ24297671
The thiazide-sensitive Na-Cl cotransporter is regulated by a WNK kinase signaling complexQ24299205
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronQ24307394
Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertensionQ24321928
Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4Q24338315
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertensionQ24538746
Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4Q24541348
Functional interactions of the SPAK/OSR1 kinases with their upstream activator WNK1 and downstream substrate NKCC1Q24548301
WNK4 regulates apical and basolateral Cl- flux in extrarenal epitheliaQ24621479
The thiazide-sensitive Na+-Cl- cotransporter: molecular biology, functional properties, and regulation by WNKsQ24623288
Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoformQ24633475
Serum and glucocorticoid-induced kinase (SGK) 1 and the epithelial sodium channel are regulated by multiple with no lysine (WNK) family membersQ24633684
Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathwayQ24648927
WNK kinases, renal ion transport and hypertensionQ24649138
WNK4 enhances the degradation of NCC through a sortilin-mediated lysosomal pathwayQ24652877
Human hypertension caused by mutations in WNK kinasesQ28212182
Aldosterone resistance: structural and functional considerations and new perspectivesQ28240204
Expression of the potassium channel ROMK in adult and fetal human kidneyQ28250878
Mechanisms of disease: WNK-ing at the mechanism of salt-sensitive hypertensionQ28254512
Activation of the thiazide-sensitive Na+-Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1Q28268511
Vasopressin induces phosphorylation of the thiazide-sensitive sodium chloride cotransporter in the distal convoluted tubuleQ28281414
WNK4 regulates the balance between renal NaCl reabsorption and K+ secretionQ28506376
Dominant-negative regulation of WNK1 by its kidney-specific kinase-defective isoformQ28567514
WNK1, a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomain IIQ28581920
The WNK1 and WNK4 protein kinases that are mutated in Gordon's hypertension syndrome phosphorylate and activate SPAK and OSR1 protein kinasesQ28583124
Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic interventionQ28591574
Role of with-no-lysine [K] kinases in the pathogenesis of Gordon's syndrome.Q31039816
A regulatory locus of phosphorylation in the N terminus of the Na-K-Cl cotransporter, NKCC1.Q31098918
Molecular mechanisms of human hypertensionQ32138445
Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit.Q33858466
Dysfunction of epithelial sodium transport: from human to mouse.Q33888866
Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromesQ34039926
Blood pressure control--special role of the kidneys and body fluidsQ34126033
Glucocorticoid and mineralocorticoid resistance/hypersensitivity syndromesQ34262743
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutationQ34338478
KLHL2 interacts with and ubiquitinates WNK kinasesQ34356315
SPAK-knockout mice manifest Gitelman syndrome and impaired vasoconstrictionQ34457030
WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1.Q34464530
WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epitheliaQ34470465
WNK kinases influence TRPV4 channel function and localizationQ34483111
WNK4 kinase regulates surface expression of the human sodium chloride cotransporter in mammalian cellsQ34524228
WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4.Q34571331
WNK1 kinase isoform switch regulates renal potassium excretion.Q34694518
Regulation of the epithelial sodium channel by accessory proteinsQ35013324
Nedd4-2 modulates renal Na+-Cl- cotransporter via the aldosterone-SGK1-Nedd4-2 pathwayQ35210213
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalitiesQ35754537
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.Q35768966
WNK kinases: molecular regulators of integrated epithelial ion transportQ35858400
WNK4 inhibits NCC protein expression through MAPK ERK1/2 signaling pathwayQ35964473
Activation of the renal Na+:Cl- cotransporter by angiotensin II is a WNK4-dependent processQ35974133
Role of WNK kinases in regulating tubular salt and potassium transport and in the development of hypertensionQ36002090
Role of the WNK-activated SPAK kinase in regulating blood pressureQ36039159
Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters.Q36079002
Potassium-related inherited tubulopathiesQ36523990
The thiazide-sensitive Na-Cl cotransporter is an aldosterone-induced proteinQ36738674
WNK1-related Familial Hyperkalemic Hypertension results from an increased expression of L-WNK1 specifically in the distal nephronQ37143452
The emerging family of CULLIN3-RING ubiquitin ligases (CRL3s): cellular functions and disease implications.Q37163747
Clinical and molecular features of type 1 pseudohypoaldosteronismQ37538319
Hereditary renal tubular disordersQ37555071
Pathophysiological roles of WNK kinases in the kidneyQ37758369
Claudins and renal salt transportQ37950889
Epigenetic modulation of the renal β-adrenergic-WNK4 pathway in salt-sensitive hypertensionQ38335855
The calcineurin inhibitor tacrolimus activates the renal sodium chloride cotransporter to cause hypertensionQ38690025
Syndrome of hypertension and hyperkalemia with normal glomerular filtration rateQ39499102
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 interactionQ39986392
Overexpression of human WNK1 increases paracellular chloride permeability and phosphorylation of claudin-4 in MDCKII cellsQ40237008
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral densityQ44055170
A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism.Q44177359
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronismQ44467022
WNK1, a Gene within a Novel Blood Pressure Control Pathway, Tissue-Specifically Generates Radically Different Isoforms with and without a Kinase DomainQ44599907
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 geneQ46585008
Flexible and floating choroid plexus cyst of the third ventricle: an ultrasonographic video documentationQ48369550
Dietary electrolyte-driven responses in the renal WNK kinase pathway in vivo.Q50646202
Regulation of the expression of the Na/Cl cotransporter by WNK4 and WNK1: evidence that accelerated dynamin-dependent endocytosis is not involved.Q50647853
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade.Q54597041
Salt handling and hypertensionQ56904729
P433issue11
P407language of work or nameEnglishQ1860
P304page(s)F1513-20
P577publication date2013-12-01
P1433published inAmerican Journal of Physiology - Renal PhysiologyQ2610177
P1476titleA molecular update on pseudohypoaldosteronism type II
P478volume305

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cites work (P2860)
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Q50141002With no lysine kinase 4 modulates sodium potassium 2 chloride cotransporter activity in vivo.

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