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
Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.
Thakare S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Etiology and outcomes of primary renal tubular acidosis.
Priyadarshini S et al.
Pediatric Nephrology (berlin, Germany), 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
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
van den Berg G et al.
Nephron, 2024
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
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.
Huang L et al.
Molecular Genetics and Genomics : Mgg, 2022
Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.
Güven S et al.
Turkish Archives of Pediatrics, 2022
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
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
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Oh J et al.
Clinical Genetics, 2021
Case Report: Identification of Polygenic Mutations by Exome Sequencing.
Liu Y et al.
Frontiers in Pediatrics, 2021
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
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
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
Alonso-Varela M et al.
Pediatric Nephrology (berlin, Germany), 2018
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
Park E et al.
Kidney & Blood Pressure Research, 2018
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
Signification of distal urinary acidification defects in hypocitraturic patients.
Forni Ogna V et al.
Plos One, 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
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
Substitution of transmembrane domain Cys residues alters pH(o)-sensitive anion transport by AE2/SLC4A2 anion exchanger.
Reimold FR et al.
Pflugers Archiv : European Journal of Physiology, 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
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
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
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
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