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
Urinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutations.
Mungara P et al.
Disease Models & Mechanisms, 2025
Unraveling the molecular landscape of kAE1: a narrative review.
Mungara P et al.
Canadian Journal of Physiology and Pharmacology, 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
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
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
Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.
Jennings ML
American Journal of Physiology. Cell Physiology, 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
Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.
Atmis B et al.
Pediatric Nephrology (berlin, Germany), 2020
Saccharomyces cerevisiae: First Steps to a Suitable Model System To Study the Function and Intracellular Transport of Human Kidney Anion Exchanger 1.
Sarder HAM et al.
Msphere, 2020
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Rao J et al.
Clinical Genetics, 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
The kidney anion exchanger 1 affects tight junction properties via claudin-4.
Lashhab R et al.
Scientific Reports, 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
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
Liu J et al.
Renal Failure, 2018
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
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
Mohebbi N et al.
Journal of Nephrology, 2018
Hypokalemic Distal Renal Tubular Acidosis.
Vallés PG et al.
Advances in Chronic Kidney Disease, 2018
Renal Tubular Acidosis: H+/Base and Ammonia Transport Abnormalities and Clinical Syndromes.
Kurtz I
Advances in Chronic Kidney Disease, 2018
Mouse models of SLC4-linked disorders of HCO3--transporter dysfunction.
Parker MD
American Journal of Physiology. Cell Physiology, 2018
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
Park E et al.
Kidney & Blood Pressure Research, 2018
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.
Watanabe T
Pediatric Health, Medicine and Therapeutics, 2018
Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.
Ficici E et al.
The Journal of General Physiology, 2017
New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.
Trepiccione F et al.
Kidney Diseases (basel, Switzerland), 2017
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.
Seeger H et al.
Journal of Nephrology, 2017
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP et al.
Pediatric Nephrology (berlin, Germany), 2017
Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.
Mumtaz R et al.
Journal of the American Society of Nephrology : Jasn, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].
DU J et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
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
Protein trafficking defects in inherited kidney diseases.
Schaeffer C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells.
Chu CY et al.
American Journal of Physiology. Cell Physiology, 2014
Structural model of the anion exchanger 1 (SLC4A1) and identification of transmembrane segments forming the transport site.
Barneaud-Rocca D et al.
The Journal of Biological Chemistry, 2013
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
Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.
Chu CY et al.
Plos One, 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