Associated Papers
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
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
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
Mabillard H et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023
Autosomal dominant tubulointerstitial kidney disease: A review.
Živná M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in REN responsible for autosomal recessive renal tubular dysgenesis.
He G et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2021
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
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.
Bleyer AJ et al.
Clinical Nephrology, 2010
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Zivná M et al.
American Journal of Human Genetics, 2009
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].
Magistroni R et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 0