Associated Papers
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M et al.
Frontiers in Pediatrics, 2023
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis.
Deejai N et al.
Bmc Medical Genomics, 2022
Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.
De Vecchis D et al.
Biophysical Journal, 2019
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.
Deejai N et al.
Laboratory Medicine, 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
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
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
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
Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations.
Vasuvattakul S
Electrolyte & Blood Pressure : E & Bp, 2010
Rapid detection of solute carrier family 4, member 1 (SLC4A1) mutations and polymorphisms by high-resolution melting analysis.
Nettuwakul C et al.
Clinical Biochemistry, 2010
Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies.
Khositseth S et al.
American Journal of Hematology, 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
Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells.
Cordat E
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 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
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
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
Sritippayawan S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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
Human anion exchanger1 mutations and distal renal tubular acidosis.
Yenchitsomanus PT
The Southeast Asian Journal of Tropical Medicine and Public Health, 2003
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.
Yenchitsomanus PT et al.
Journal of Human Genetics, 2003