Associated Papers
Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease.
Jiang Y et al.
Renal Failure, 2025
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 2025
Primary renal tubular acidosis during pregnancy, what about the perinatal prognosis? A case report and literature review.
Van Laethem J et al.
Nefrologia, 2025
Unraveling the molecular landscape of kAE1: a narrative review.
Mungara P et al.
Canadian Journal of Physiology and Pharmacology, 2024
Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron.
Tabibzadeh N et al.
Journal of Internal Medicine, 2023
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M et al.
Frontiers in Pediatrics, 2023
A pragmatic approach to selective genetic testing in kidney transplant candidates.
Nissaisorakarn P et al.
Frontiers in Transplantation, 2023
A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis.
Giovanni Raimondo P et al.
Pediatric Blood & Cancer, 2022
Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.
Jennings ML
American Journal of Physiology. Cell Physiology, 2021
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.
Sakuraya K et al.
Cen Case Reports, 2020
Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.
De Vecchis D et al.
Biophysical Journal, 2019
Distal renal tubular acidosis: genetic causes and management.
Soares SBM et al.
World Journal of Pediatrics : Wjp, 2019
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2019
A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger.
Wang D et al.
Nephron, 2019
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
Alonso-Varela M et al.
Pediatric Nephrology (berlin, Germany), 2018
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP et al.
Pediatric Nephrology (berlin, Germany), 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis.
Vichot AA et al.
Clinical Kidney Journal, 2017
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Reithmeier RA et al.
Biochimica Et Biophysica Acta, 2016
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
Gómez J et al.
Pediatric Research, 2016
Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.
Ito N et al.
Cen Case Reports, 2015
Three-dimensional model for the human Cl-/HCO3- exchanger, AE1, by homology to the E. coli ClC protein.
Bonar P et al.
Journal of Molecular Biology, 2013
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.
Khositseth S et al.
Qjm : Monthly Journal of the Association of Physicians, 2012
Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
Fry AC et al.
Journal of the American Society of Nephrology : Jasn, 2012
Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis.
Zhang Z et al.
Archives of Medical Research, 2012
South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.
Guizouarn H et al.
British Journal of Haematology, 2011
Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations.
Vasuvattakul S
Electrolyte & Blood Pressure : E & Bp, 2010
Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect.
Walsh S et al.
Biochemical and Biophysical Research Communications, 2009
Review. Leaky Cl--HCO3- exchangers: cation fluxes via modified AE1.
Ellory JC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009
Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.
Walsh S et al.
American Journal of Physiology. Renal Physiology, 2008
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis.
Kittanakom S et al.
The Biochemical Journal, 2008
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
Suzuki M et al.
Pflugers Archiv : European Journal of Physiology, 2008
Interaction of integrin-linked kinase with the kidney chloride/bicarbonate exchanger, kAE1.
Keskanokwong T et al.
The Journal of Biological Chemistry, 2007
Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells.
Cordat E et al.
American Journal of Physiology. Renal Physiology, 2006
Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells.
Cordat E
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006
Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis.
Sawasdee N et al.
Biochemical and Biophysical Research Communications, 2006
SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models.
Pushkin A et al.
American Journal of Physiology. Renal Physiology, 2006
Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells.
Cordat E et al.
Traffic (copenhagen, Denmark), 2006
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.
Yenchitsomanus PT et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005
Renal tubular acidosis: developments in our understanding of the molecular basis.
Laing CM et al.
The International Journal of Biochemistry & Cell Biology, 2005
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).
Kittanakom S et al.
The Journal of Biological Chemistry, 2004
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.
Rungroj N et al.
The Journal of Biological Chemistry, 2004
Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.
Shayakul C et al.
Clinical and Experimental Nephrology, 2004
Hereditary stomatocytosis and cation-leaky red cells--recent developments.
Bruce LJ
Blood Cells, Molecules & Diseases, 0
Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.
Ayoub EAM et al.
Jornal Brasileiro De Nefrologia, 0