End‐stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous NUP93 variant
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Title
End‐stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous
NUP93
variant
Authors
Keywords
-
Journal
Clinical Case Reports
Volume 9, Issue 11, Pages -
Publisher
Wiley
Online
2021-11-16
DOI
10.1002/ccr3.5111
References
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Related references
Note: Only part of the references are listed.- Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome
- (2019) Feng Zhao et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
- (2019) Rini Rossanti et al. JOURNAL OF HUMAN GENETICS
- Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
- (2019) Ibrahim Sandokji et al. BMC Nephrology
- Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
- (2018) Corinna Ernst et al. BMC Medical Genomics
- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93
- (2018) Martin Bezdíčka et al. PEDIATRIC NEPHROLOGY
- First report of recurrent nephrotic syndrome after kidney transplantation in a patient with NUP93 gene mutations – A case report
- (2018) T. Seeman et al. TRANSPLANTATION PROCEEDINGS
- Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry
- (2018) Agnes Trautmann et al. Frontiers in Pediatrics
- Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
- (2018) Daniela A. Braun et al. JOURNAL OF CLINICAL INVESTIGATION
- Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
- (2016) Daniela A Braun et al. NATURE GENETICS
- The nuclear pore complex: understanding its function through structural insight
- (2016) Martin Beck et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort
- (2015) A. Trautmann et al. Clinical Journal of the American Society of Nephrology
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
- (2015) Heon Yung Gee et al. JOURNAL OF CLINICAL INVESTIGATION
- Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
- (2014) Gemma Bullich et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
- (2014) C. E. Sadowski et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
- (2013) Heon Yung Gee et al. JOURNAL OF CLINICAL INVESTIGATION
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