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
Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review.
Kumagai T et al.
Bmc Nephrology, 2025
Etiology and outcomes of primary renal tubular acidosis.
Priyadarshini S et al.
Pediatric Nephrology (berlin, Germany), 2025
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
van den Berg G et al.
Nephron, 2024
Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.
Güven S et al.
Turkish Archives of Pediatrics, 2022
Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.
Chen L et al.
Cell Death & Disease, 2020
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
Jobst-Schwan T et al.
Kidney International, 2020
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
Alonso-Varela M et al.
Pediatric Nephrology (berlin, Germany), 2018
Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.
Esmail S et al.
The Journal of Biological Chemistry, 2018
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
Kose E et al.
Renal Failure, 2014
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH et al.
Journal of Medical Genetics, 2002
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