Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis - Wikidata - awgldk - TriplyDB

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

http://www.wikidata.org/entity/Q24647772

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Physical and functional links between anion exchanger-1 and sodium pump A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells CD63 interacts with the carboxy terminus of the colonic H+-K+-ATPase to decrease [corrected] plasma membrane localization and 86Rb+ uptake 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 Kidney stone disease.Molecular mechanisms and regulation of urinary acidification Collecting duct intercalated cell function and regulation Red blood cell membrane disorders Physiological roles and regulation of mammalian sulfate transporters Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells The B1-subunit of the H(+) ATPase is required for maximal urinary acidification Relocalization of the V-ATPase B2 subunit to the apical membrane of epididymal clear cells of mice deficient in the B1 subunit Glyceraldehyde 3-phosphate dehydrogenase is required for band 3 (anion exchanger 1) membrane residency in the mammalian kidney Compensatory membrane expression of the V-ATPase B2 subunit isoform in renal medullary intercalated cells of B1-deficient mice NBCe1A dimer assemble visualized by bimolecular fluorescence complementation Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy.Evidence from renal proximal tubules that HCO3- and solute reabsorption are acutely regulated not by pH but by basolateral HCO3- and CO2.The SLC4 family of bicarbonate (HCO₃⁻) transporters.Renal vacuolar H+-ATPase.Renal tubular acidosis: a new look at an old problem.Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.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.Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.Deficient acid handling with distal RTA in the NBCe2 knockout mouse.Adaptor protein 1 complexes regulate intracellular trafficking of the kidney anion exchanger 1 in epithelial cells 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 Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells.Inherited renal acidoses.Oligomeric structure and minimal functional unit of the electrogenic sodium bicarbonate cotransporter NBCe1-A.Renal β-intercalated cells maintain body fluid and electrolyte balance Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1.

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Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

http://www.wikidata.org/entity/Q24647772

description

1998 nî lūn-bûn

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1998 թուականի Մայիսին հրատարակուած գիտական յօդուած

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1998年の論文

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P2860

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis

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

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

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

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

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

Parametric and nonparametric linkage analysis: a unified multipoint approach

British Paediatric Association: Proceedings of the Eighth Annual General Meeting

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

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