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
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