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Exome Sequencing Reveals Cubilin Mutation As A Single-Gene Cause Of Proteinuria
(Amer Soc Nephrology, 2011)
In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively ...
Mutation Analysis Of Nphs1 In A Worldwide Cohort Of Congenital Nephrotic Syndrome Patients
(Karger, 2012)
Background: Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more ...
Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study
(Oxford Univ Press, 2002)
Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. ...
The Protective Effect Of Taurine Against Gentamicin-Induced Acute Tubular Necrosis In Rats
(Oxford Univ Press, 2000)
Background. Taurine, which is the major intracellular free beta-amino acid, is known to be an endogenous antioxidant and a membrane-stabilizing agent. In this study, we wished to know whether taurine altered the concentration ...
The Effect of Hyperbaric Oxygen Therapy on Rhabdomyolysis-Induced Myoglobinuric Acute Renal Failure in Rats
(Taylor & Francis Ltd, 2016)
Myoglobinuric acute renal failure (MARF) may develop after severe muscle injury. Heme oxygenase-1 (HO-1), a stress-response protein, has been implicated as a protective agent against MARF. We hypothesized that hyperbaric ...