Associated Papers
Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient.
Liu Y et al.
Biochemical Genetics, 2024
Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene.
Liu Y et al.
Frontiers in Pediatrics, 2022
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.
Horita S et al.
Bmc Medical Genetics, 2018
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.
Lo YF et al.
Kidney International, 2011
Mutation of Aspartate 555 of the Sodium/Bicarbonate Transporter SLC4A4/NBCe1 Induces Chloride Transport.
Yang HS et al.
The Journal of Biological Chemistry, 2009
Modular structure of sodium-coupled bicarbonate transporters.
Boron WF et al.
The Journal of Experimental Biology, 2009
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.
Toye AM et al.
American Journal of Physiology. Cell Physiology, 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
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