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
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2018
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
Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis.
Kurtz I et al.
Current Opinion in Nephrology and Hypertension, 2013
HCO(3)(-)-independent conductance with a mutant Na(+)/HCO(3)(-) cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis.
Parker MD et al.
The Journal of Physiology, 2012
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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