Pages that link to "Q24647772"

The following pages link to Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis (Q24647772):

Displayed 50 items.

• Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness (Q22008703) ‎ (← links)
• Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger (Q24290545) ‎ (← links)
• Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis (Q24293024) ‎ (← links)
• Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component (Q24299660) ‎ (← links)
• Physical and functional links between anion exchanger-1 and sodium pump (Q24300633) ‎ (← links)
• Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene (Q24301941) ‎ (← links)
• A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells (Q24305531) ‎ (← links)
• CD63 interacts with the carboxy terminus of the colonic H+-K+-ATPase to decrease [corrected] plasma membrane localization and 86Rb+ uptake (Q24337934) ‎ (← links)
• 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 (Q24532109) ‎ (← links)
• Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 (Q24534382) ‎ (← links)
• Kidney stone disease (Q24536113) ‎ (← links)
• Molecular mechanisms and regulation of urinary acidification (Q26823086) ‎ (← links)
• Collecting duct intercalated cell function and regulation (Q27007175) ‎ (← links)
• Red blood cell membrane disorders (Q28137658) ‎ (← links)
• Physiological roles and regulation of mammalian sulfate transporters (Q28189817) ‎ (← links)
• Functional genetic analysis of mouse chromosome 11 (Q28204984) ‎ (← links)
• The SLC4 family of HCO 3 - transporters (Q28238660) ‎ (← links)
• Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells (Q28487020) ‎ (← links)
• The B1-subunit of the H(+) ATPase is required for maximal urinary acidification (Q28505674) ‎ (← links)
• Relocalization of the V-ATPase B2 subunit to the apical membrane of epididymal clear cells of mice deficient in the B1 subunit (Q28512781) ‎ (← links)
• Glyceraldehyde 3-phosphate dehydrogenase is required for band 3 (anion exchanger 1) membrane residency in the mammalian kidney (Q28573248) ‎ (← links)
• Compensatory membrane expression of the V-ATPase B2 subunit isoform in renal medullary intercalated cells of B1-deficient mice (Q28588238) ‎ (← links)
• NBCe1A dimer assemble visualized by bimolecular fluorescence complementation (Q30358469) ‎ (← links)
• Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype (Q30524353) ‎ (← links)
• Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family (Q33628362) ‎ (← links)
• Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy (Q33807213) ‎ (← links)
• Evidence from renal proximal tubules that HCO3- and solute reabsorption are acutely regulated not by pH but by basolateral HCO3- and CO2. (Q33928576) ‎ (← links)
• The SLC4 family of bicarbonate (HCO₃⁻) transporters (Q34333694) ‎ (← links)
• Renal vacuolar H+-ATPase (Q34350645) ‎ (← links)
• Renal tubular acidosis: a new look at an old problem (Q34420526) ‎ (← links)
• Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit (Q34439794) ‎ (← links)
• The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis (Q34798145) ‎ (← links)
• A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report. (Q35661887) ‎ (← links)
• Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA. (Q36050939) ‎ (← links)
• Deficient acid handling with distal RTA in the NBCe2 knockout mouse (Q36066404) ‎ (← links)
• Adaptor protein 1 complexes regulate intracellular trafficking of the kidney anion exchanger 1 in epithelial cells (Q36308953) ‎ (← links)
• SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models (Q36388616) ‎ (← links)
• 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 (Q36436532) ‎ (← links)
• Regulation of transport in the connecting tubule and cortical collecting duct (Q36450027) ‎ (← links)
• Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells (Q36704530) ‎ (← links)
• Inherited renal acidoses. (Q36844436) ‎ (← links)
• Oligomeric structure and minimal functional unit of the electrogenic sodium bicarbonate cotransporter NBCe1-A. (Q36897662) ‎ (← links)
• Renal β-intercalated cells maintain body fluid and electrolyte balance (Q37200817) ‎ (← links)
• Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations (Q37241873) ‎ (← links)
• A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis. (Q37355441) ‎ (← links)
• Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. (Q37388345) ‎ (← links)
• Regulated acid-base transport in the collecting duct (Q37412431) ‎ (← links)
• PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1. (Q37550258) ‎ (← links)
• Molecular pathophysiology of renal tubular acidosis. (Q37590129) ‎ (← links)
• Uriniferous tubule: structural and functional organization (Q38130285) ‎ (← links)