Associated Papers
Hereditary distal renal tubular acidosis with chronic granulomatous disease: a rare coincidence.
Srinivas K et al.
Cen Case Reports, 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
Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.
Mathew V et al.
Pediatric Nephrology (berlin, Germany), 2025
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
Clinical utility of genetic testing in Indian children with kidney diseases.
Saha A et al.
Bmc Nephrology, 2023
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
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis
Shahab-Movahed Z et al.
Iranian Biomedical Journal, 2021
Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia.
More TA et al.
Gene, 2021
Case Report: Identification of Polygenic Mutations by Exome Sequencing.
Liu Y et al.
Frontiers in Pediatrics, 2021
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease.
Gunaratne W et al.
Bmc Nephrology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.
De Vecchis D et al.
Biophysical Journal, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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 Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.
Yang E et al.
Blood, 2018
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.
Park E et al.
Journal of Korean Medical Science, 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
Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.
Kager L et al.
Pediatric Blood & Cancer, 2017
A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.
Takeuchi T et al.
Scientific Reports, 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
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Distal renal tubular acidosis with hereditary spherocytosis.
Sinha R et al.
Indian Pediatrics, 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
dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.
Fawaz NA et al.
European Journal of Haematology, 2012
Distribution of Diego blood group alleles and identification of four novel mutations on exon 19 of SLC4A1 gene in the Chinese Han population by polymerase chain reaction sequence-based typing.
Xu XG et al.
Vox Sanguinis, 2011
Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.
Shmukler BE et al.
American Journal of Hematology, 2010
Natural history of Southeast Asian Ovalocytosis during the first 3 years of life.
Laosombat V et al.
Blood Cells, Molecules & Diseases, 2010
Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations.
Vasuvattakul S
Electrolyte & Blood Pressure : E & Bp, 2010
Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.
Ungsupravate D et al.
Molecular Membrane Biology, 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
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.
Anacleto FE et al.
Nephron. Physiology, 2010
Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect.
Walsh S et al.
Biochemical and Biophysical Research Communications, 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
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
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
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
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