Global ETD Search
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Showing 1 to 3 of 3 for “"gitelman syndrome"”.
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The Search for Regulatory Mutations in Gitelman Syndrome
… been linked to recessive salt wasting disorders. Gitelman syndrome (GS) is a recessive Mendelian kidney disorder caused by deleterious mutations in SLC12A3 and has an incidence of approximately 1 in 40,0002. Clinical hallmarks of GS include hypotension, hypokalemia, hypomagnesemia, metabolic …
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Neue Aspekte der Nierenpathophysiologie durch Untersuchung von humanen Angiotensin II Typ I Rezeptor aktivierenden Antikörpern und SLC12A3 Mutationen
Das Gitelman Syndrom ist eine relativ häufige monogenetische, renale Tubuluserkrankung (SLC12A3 Gen) des Menschen mit autosomal-rezessivem Erbgang. Das Gitelman Syndrom führt relativ langsam zur Reduktion der glomerulären Filtrationsrate (GFR) mit der Folge, dass nur wenige betroffene Patienten …
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Gitelman & Gordon: Mirror image syndromes reveal the roles of WNKs in blood pressure homeostasis and novel anti-hypertensive targets
Study of Gordon (PHAII) and Gitelman (GS) syndromes revealed the importance of the WNK pathway and thiazide-sensitive Na-Cl Cotransporter (NCC) in the renal control of blood pressure. PHAII mutations lead to WNK accumulation resulting in the hyperphosphorylation of the downstream effector, SPAK, …