Associated Papers
Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Hasturk B et al.
Pediatric Nephrology (berlin, Germany), 2025
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
NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease.
Kurtz I
Pflugers Archiv : European Journal of Physiology, 2014
Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties.
Kurtz I et al.
Frontiers in Physiology, 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
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
Modular structure of sodium-coupled bicarbonate transporters.
Boron WF et al.
The Journal of Experimental Biology, 2009
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
Suzuki M et al.
Pflugers Archiv : European Journal of Physiology, 2008
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
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
Li HC et al.
American Journal of Physiology. Renal Physiology, 2005
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.
Inatomi J et al.
Pflugers Archiv : European Journal of Physiology, 2004
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