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
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis
Shahab-Movahed Z et al.
Iranian Biomedical Journal, 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
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
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
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
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
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
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
Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.
Chu CY et al.
Plos One, 2013
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
Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
Fry AC et al.
Journal of the American Society of Nephrology : Jasn, 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
Loss of Slc4a1b chloride/bicarbonate exchanger function protects mechanosensory hair cells from aminoglycoside damage in the zebrafish mutant persephone.
Hailey DW et al.
Plos Genetics, 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
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.
Chu C et al.
The Biochemical Journal, 2010