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
A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis.
Giovanni Raimondo P et al.
Pediatric Blood & Cancer, 2022
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.
Zhang R et al.
Human Mutation, 2021
Case Report: Identification of Polygenic Mutations by Exome Sequencing.
Liu Y et al.
Frontiers in Pediatrics, 2021
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
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.
Zhang R et al.
Genetic Testing and Molecular Biomarkers, 2018
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.
Watanabe T
Pediatric Health, Medicine and Therapeutics, 2018
A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran.
Hooman N et al.
Iranian Journal of Kidney Diseases, 2015
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Interaction of integrin-linked kinase with the kidney chloride/bicarbonate exchanger, kAE1.
Keskanokwong T et al.
The Journal of Biological Chemistry, 2007
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand.
Khositseth S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
Immunohistochemical comparison of a case of inherited distal renal tubular acidosis (with a unique AE1 mutation) with an acquired case secondary to autoimmune disease.
Walsh S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
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
Distal renal tubular acidosis and the potassium enigma.
Batlle D et al.
Seminars in Nephrology, 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
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
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
Distal renal tubular acidosis.
Nicoletta JA et al.
Current Opinion in Pediatrics, 2004
Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA).
Toye AM et al.
Journal of Cell Science, 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
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.
Sritippayawan S et al.
Pediatric Nephrology (berlin, Germany), 2003
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.
Yenchitsomanus PT et al.
Journal of Human Genetics, 2003
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
Wrong O et al.
Kidney International, 2002
Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.
Yenchitsomanus PT et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2002
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.
Quilty JA et al.
American Journal of Physiology. Renal Physiology, 2002
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
Rodríguez-Soriano J
Pediatric Nephrology (berlin, Germany), 2000
Inherited renal tubular acidosis.
Shayakul C et al.
Current Opinion in Nephrology and Hypertension, 2000
Transmembrane folding of the human erythrocyte anion exchanger (AE1, Band 3) determined by scanning and insertional N-glycosylation mutagenesis.
Popov M et al.
The Biochemical Journal, 1999
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
Tanphaichitr VS et al.
The Journal of Clinical Investigation, 1998