about
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessNon-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosisVacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and boneMolecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump componentLocalization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosisComparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cellsGitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporterBartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromeLocalization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisMolecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosisRevised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genesGlyceraldehyde 3-phosphate dehydrogenase is required for band 3 (anion exchanger 1) membrane residency in the mammalian kidneyRegulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletionVasopressin induces expression of the Cl-/HCO3- exchanger SLC26A7 in kidney medullary collecting ducts of Brattleboro ratsMice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.Urinary Exosomes Contain MicroRNAs Capable of Paracrine Modulation of Tubular Transporters in Kidney.An extended nomenclature for mammalian V-ATPase subunit genes and splice variants.Human urinary exosomes as innate immune effectors.Inherited distal renal tubular acidosis.Monogenic tubular salt and acid transporter disorders.Life-threatening metabolic alkalosis in Pendred syndromeSalt handling and hypertension.Inherited renal acidoses.Importance of early audiologic assessment in distal renal tubular acidosisRhCG is the major putative ammonia transporter expressed in the human kidney, and RhBG is not expressed at detectable levels.Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulumCellular physiology of the renal H+ATPase.PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1.Mutations contributing to human blood pressure variation.[125I]-PD151242: a selective ligand for endothelin ETA receptors in human kidney which localizes to renal vasculature.Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.Examining Patients - an introduction to clinical medicine.Interpretation of blood films in diagnosis of malaria.Localization of endothelin peptides in human kidneyCharacterization of peptide and nonpeptide antagonists in human kidneyComparative quantification of endothelin receptor mRNA in human kidney: new tools for direct investigation of human tissue
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Fiona E Karet
@en
Fiona E Karet
@es
Fiona E Karet
@nl
Fiona E Karet
@sl
type
label
Fiona E Karet
@en
Fiona E Karet
@es
Fiona E Karet
@nl
Fiona E Karet
@sl
prefLabel
Fiona E Karet
@en
Fiona E Karet
@es
Fiona E Karet
@nl
Fiona E Karet
@sl
P106
P21
P31
P496
0000-0002-2457-2869