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
Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.
Zhou C et al.
Bmc Nephrology, 2025
Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT.
Chen R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.
Duowen H et al.
Frontiers in Pediatrics, 2025
Unraveling the molecular landscape of kAE1: a narrative review.
Mungara P et al.
Canadian Journal of Physiology and Pharmacology, 2024
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.
Chen X et al.
Journal of Hematopathology, 2023
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Liu Y et al.
Human Genome Variation, 2023
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M et al.
Frontiers in Pediatrics, 2023
Hereditary spherocytosis complicated by intrahepatic cholestasis: two case reports.
Han N et al.
Annals of Translational Medicine, 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
Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity.
Aso K et al.
Clinical Case Reports, 2022
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.
Glenthøj A et al.
Ejhaem, 2021
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis
Shahab-Movahed Z et al.
Iranian Biomedical Journal, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.
Wang D et al.
Frontiers in Pharmacology, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease.
Gunaratne W et al.
Bmc Nephrology, 2020
A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis.
Tang X et al.
Indian Journal of Pediatrics, 2020
A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis.
Martin JL et al.
Internal Medicine Journal, 2020
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
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 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
[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].
Peng GX et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
Mohebbi N et al.
Journal of Nephrology, 2018
Interaction of the human erythrocyte Band 3 anion exchanger 1 (AE1, SLC4A1) with lipids and glycophorin A: Molecular organization of the Wright (Wr) blood group antigen.
Kalli AC et al.
Plos Computational Biology, 2018
Hypokalemic Distal Renal Tubular Acidosis.
Vallés PG et al.
Advances in Chronic Kidney Disease, 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
New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.
Trepiccione F et al.
Kidney Diseases (basel, Switzerland), 2017
γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation.
Duangtum N et al.
The Biochemical Journal, 2017
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP et al.
Pediatric Nephrology (berlin, Germany), 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 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
The carboxyl-terminally truncated kidney anion exchanger 1 R901X dRTA mutant is unstable at the plasma membrane.
Almomani E et al.
American Journal of Physiology. Cell Physiology, 2016
Transmembrane protein 139 (TMEM139) interacts with human kidney isoform of anion exchanger 1 (kAE1).
Nuiplot NO et al.
Biochemical and Biophysical Research Communications, 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
Regulators of Slc4 bicarbonate transporter activity.
Thornell IM et al.
Frontiers in Physiology, 2015