A novel TRPC6mutation in a family with podocytopathy and clinical variability
Published 2013 View Full Article
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Title
A novel TRPC6mutation in a family with podocytopathy and clinical variability
Authors
Keywords
Proteinuria, Minimal change disease, Focal segmental glomerulosclerosis, Genetic testing, TRPC6, Genotype-phenotype correlation
Journal
BMC Nephrology
Volume 14, Issue 1, Pages -
Publisher
Springer Nature
Online
2013-05-10
DOI
10.1186/1471-2369-14-104
References
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Related references
Note: Only part of the references are listed.- Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients
- (2012) Anja K. Büscher et al. CLINICAL NEPHROLOGY
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- (2011) M. Gigante et al. Clinical Journal of the American Society of Nephrology
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- (2011) V. Liakopoulos et al. CLINICAL NEPHROLOGY
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- (2011) S. Mir et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome
- (2010) A. K. Buscher et al. Clinical Journal of the American Society of Nephrology
- TRPC channel modulation in podocytes—inching toward novel treatments for glomerular disease
- (2010) Shafic El Hindi et al. PEDIATRIC NEPHROLOGY
- Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology
- (2009) E. Machuca et al. HUMAN MOLECULAR GENETICS
- Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis
- (2009) Sheila Santín et al. KIDNEY INTERNATIONAL
- Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant
- (2009) Eduardo Machuca et al. KIDNEY INTERNATIONAL
- TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis
- (2009) S. Santin et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- A Novel TRPC6 Mutation That Causes Childhood FSGS
- (2009) Saskia F. Heeringa et al. PLoS One
- COL4A3/COL4A4Mutations Link Familial Hematuria and Focal Segmental Glomerulosclerosis. Glomerular Epithelium Destruction via Basement Membrane Thinning?
- (2008) Konstantinos Voskarides et al. CONNECTIVE TISSUE RESEARCH
- 2007 Young Investigator Award: TRP'ing into a New Era for Glomerular Disease
- (2008) M. P. Winn JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients
- (2008) Bin Zhu et al. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
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