Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel - Wikidata - thesis-toulmin - TriplyDB

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

http://www.wikidata.org/entity/Q28240272

about

Nedd4-2 and the regulation of epithelial sodium transport Role of the UPS in Liddle syndrome Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel Identification of Murr1 as a regulator of the human delta epithelial sodium channel COMMD1 downregulates the epithelial sodium channel through Nedd4-2 A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families The C2 domain of the ubiquitin protein ligase Nedd4 mediates Ca2+-dependent plasma membrane localization Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III Latent membrane protein 2A of Epstein-Barr virus binds WW domain E3 protein-ubiquitin ligases that ubiquitinate B-cell tyrosine kinases Mendelian forms of human hypertension and mechanisms of disease Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination.Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 Phosphorylation of Nedd4-2 by Sgk1 regulates epithelial Na(+) channel cell surface expression Identification of a new locus for medullary cystic disease, on chromosome 16p12.Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity Airway surface liquid volume regulation determines different airway phenotypes in liddle compared with betaENaC-overexpressing mice Salt handling and hypertension Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis Nedd4 mediates control of an epithelial Na+ channel in salivary duct cells by cytosolic Na+Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension The renal channelopathies Epithelial Na(+) channel regulation by cytoplasmic and extracellular factors Ubiquitylation and control of renal Na+ balance and blood pressure Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies The role of transforming growth factor β1 in the regulation of blood pressure Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension Blood pressure and amiloride-sensitive sodium channels in vascular and renal cells Inhibition of ENaC by endothelin-1 Adrenal Diagnostics: An Endocrinologist's Perspective focused on Hyperaldosteronism Protein trafficking defects in inherited kidney diseases Salt-Sensitive Hypertension: Perspectives on Intrarenal Mechanisms Interaction of syntaxins with the amiloride-sensitive epithelial sodium channel All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+

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P2860

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

http://www.wikidata.org/entity/Q28240272

description

1994 nî lūn-bûn

@nan

1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1994年の論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年论文

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name

Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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type

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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Liddle's syndrome: heritable h ...... the epithelial sodium channel

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C M Bositis

http://www.w3.org/2001/XMLSchema#string

C Nelson-Williams

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D G Warnock

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J H Hansson

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J R Gill

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J W Findling

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M Schambelan

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R A Shimkets

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R V Milora

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S Ulick

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407-14

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scholarly article

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2420234

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10.1016/0092-8674(94)90250-X

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3

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arterial hypertension