Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene - Wikidata - thesis-toulmin - TriplyDB

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

http://www.wikidata.org/entity/Q24561520

about

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis Molecular mechanisms and regulation of urinary acidification Collecting duct intercalated cell function and regulation Protein trafficking defects in inherited kidney diseases Physiological roles and regulation of mammalian sulfate transporters Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells The forkhead transcription factor Foxi1 directly activates the AE4 promoter AE4 is a DIDS-sensitive Cl(-)/HCO(-)(3) exchanger in the basolateral membrane of the renal CCD and the SMG duct The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.Refractory rickets caused by mild distal renal tubular acidosis.Signification of distal urinary acidification defects in hypocitraturic patients.Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy.Molecular developments in renal tubulopathies Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.The SLC4 family of bicarbonate (HCO₃⁻) transporters.Renal vacuolar H+-ATPase.Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.Exploring the genetic basis of early-onset chronic kidney disease.The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis.A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.Effects of Nt-truncation and coexpression of isolated Nt domains on the membrane trafficking of electroneutral Na+/HCO3- cotransporters Requirements for ion and solute transport, and pH regulation during enamel maturation.Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.Structure and Function of SLC4 Family [Formula: see text] Transporters.SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models.Regulation of AE2-mediated Cl- transport by intracellular or by extracellular pH requires highly conserved amino acid residues of the AE2 NH2-terminal cytoplasmic domain Regulation of transport in the connecting tubule and cortical collecting duct Pyk2 regulates H+-ATPase-mediated proton secretion in the outer medullary collecting duct via an ERK1/2 signaling pathway.Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells.Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis Inherited renal acidoses.Oligomeric structure and minimal functional unit of the electrogenic sodium bicarbonate cotransporter NBCe1-A.

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P2860

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

http://www.wikidata.org/entity/Q24561520

description

1997 nî lūn-bûn

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1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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1997 թվականի հոտեմբերին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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Journal of Clinical Investigation

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Familial distal renal tubular ...... n exchanger (Band 3, AE1) gene

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A E Schofield

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D L Cope

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G K Jones

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M Burley

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M J Tanner

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P2860

A Gene Map of the Human Genome

Structural organization of glycophorin A and B genes: glycophorin B gene evolved by homologous recombination at Alu repeat sequences

Cleavage of structural proteins during the assembly of the head of bacteriophage T4

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

Molecular and cellular biology of the erythrocyte anion exchanger (AE1)

Lysine 539 of human band 3 is not essential for ion transport or inhibition by stilbene disulfonates

Monoclonal antibodies to the membrane domain of the human erythrocyte anion transport protein. Localization of the C-terminus of the protein to the cytoplasmic side of the red cell membrane and distribution of the protein in some human tissues

Expression of band 3 anion exchanger induces chloride current and taurine transport: structure-function analysis

Anion exchanger 1 in human kidney and oncocytoma differs from erythroid AE1 in its NH2 terminus

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1693-1707

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10.1172/JCI119694

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