Research Topics
Genomes and Genes | Rasheed GbadegesinSummaryAffiliation: Duke University Medical Center Country: USA Publications
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Publications
Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGSRasheed Gbadegesin
Department of Pediatrics, Duke University Medical Center, Durham, NC, 27710, USA
Pediatr Nephrol 24:281-5. 2009..Kindreds appropriate for genome-wide screening are currently being subjected to analysis with the aim of identifying other genetic causes of FSGS...
Pathogenesis and therapy of focal segmental glomerulosclerosis: an updateRasheed Gbadegesin
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
Pediatr Nephrol 26:1001-15. 2011..This review focuses on recent advances in the molecular pathogenesis of FSGS and currently available therapeutic agents as well as potential novel therapies...
A new locus for familial FSGS on chromosome 2pRasheed Gbadegesin
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
J Am Soc Nephrol 21:1390-7. 2010..These data support a new gene locus for familial FSGS on chromosome 2p15. Identification of the mutated gene at this locus may provide further insight into the disease mechanisms of FSGS...
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndromeSaskia F Heeringa
Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109 5646, USA
Nephrol Dial Transplant 23:3527-33. 2008..So far, more than 80 different mutations of NPHS1 causing CNF have been published...
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndromeBernward Hinkes
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
J Am Soc Nephrol 19:365-71. 2008..Because the age of onset can vary by several years among those with identical mutations, additional factors may modify the phenotype...
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)Bernward G Hinkes
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
Pediatrics 119:e907-19. 2007..Therefore, we analyzed all 4 of the genes jointly in a large European cohort of 89 children from 80 families with nephrotic syndrome manifesting in the first year of life and characterized genotype/phenotype correlations...
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
J Clin Invest 121:2013-24. 2011..These data suggest that coenzyme Q10-related forms of SRNS and hearing loss can be molecularly identified and potentially treated...
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndromeGil Chernin
Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
Pediatr Nephrol 23:1455-60. 2008..Knowledge of mutation rate of NPHS2 in different populations of SRNS patients facilitates the physician in planning a suitable genetic screening strategy for patients...
TRPC6 enhances angiotensin II-induced albuminuriaJason Eckel
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
J Am Soc Nephrol 22:526-35. 2011..Our findings suggest that TRPC6 promotes albuminuria, perhaps by promoting angiotensin II-dependent increases in Ca(2+), suggesting that TRPC6 blockade may be therapeutically beneficial in proteinuric kidney disease...
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
Nat Genet 38:1397-405. 2006..These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotic syndrome...
Significance of hemolysis on extracorporeal life support after cardiac surgery in childrenRasheed Gbadegesin
Department of Pediatrics, Duke University Medical Center, Durham, NC, USA
Pediatr Nephrol 24:589-95. 2009..In conclusion, elevated FHb levels were associated with renal dysfunction and death during ECLS in children undergoing cardiac surgery. Further studies are needed to elucidate the cause-effect relationship in our findings...
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndromeRasheed Gbadegesin
Department of Pediatrics, Division of Nephrology, Ann Arbor, MI 48109, USA
Pediatr Nephrol 22:509-13. 2007..0 in SRNS patients; p < 0.001). No NPHS2 or WT1 mutations were found in patients with FRNS/SDNS and uncomplicated SSNS. The hypothesis that FRNS/SDNS may be associated with heterozygous mutations in NPHS2 or WT1 was not confirmed...
Arterial compliance in adolescents and young adults receiving chronic hemodialysisRasheed Gbadegesin
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27157, USA
Ren Fail 30:591-6. 2008..Longitudinal studies with a larger sample size are needed to confirm our observation and speculation...
Therapeutic targets in focal and segmental glomerulosclerosisPeter J Lavin
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
Curr Opin Nephrol Hypertens 17:386-92. 2008....
