Associated Papers
Case-inspired exploration of renin mutations in autosomal dominant tubulointerstitial kidney disease: not all paths lead to the endoplasmic reticulum.
Niedbalska-Tarnowska J et al.
Pediatric Nephrology (berlin, Germany), 2024
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.
Schaeffer C et al.
Disease Models & Mechanisms, 2023
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
Sicking M et al.
Life Science Alliance, 2022
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M et al.
Kidney International, 2020
Clinical and genetic spectra of kidney disease caused by REN mutations.
Schaeffer C et al.
Kidney International, 2020
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.
Schaeffer C et al.
Scientific Reports, 2019
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
Clissold RL et al.
Bmc Nephrology, 2017
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
Al-Hamed MH et al.
Clinical Kidney Journal, 2016
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
Beck BB et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].
Magistroni R et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 0
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