COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
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Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesisRecurrence and Treatment after Renal Transplantation in Children with FSGSPodocytesGenetic causes of focal segmental glomerulosclerosis: implications for clinical practiceCell biology and pathology of podocytesThe human flavoproteomeThe flavoproteome of the yeast Saccharomyces cerevisiaeFunctional conservation of coenzyme Q biosynthetic genes among yeasts, plants, and humansAarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal AccumulationCoenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6Biochemical and Cellular Determinants of Renal Glomerular ElasticityDysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiencyInducible podocyte injury and proteinuria in transgenic zebrafish.Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.Genetic testing in steroid-resistant nephrotic syndrome: when and how?Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryHuman COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-SynthomeClinical presentations of coenzyme q10 deficiency syndromePathomechanisms in coenzyme q10-deficient human fibroblasts.Biochemical diagnosis of coenzyme q10 deficiency.An overview of current mouse models recapitulating coenzyme q10 deficiency syndromeUsing zebrafish to study podocyte genesis during kidney development and regeneration.A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.Pathological similarities between low birth weight-related nephropathy and nephropathy associated with mitochondrial cytopathy.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.The primary glomerulonephritides: a systems biology approach.Exploring the genetic basis of early-onset chronic kidney disease.Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome.COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Renal mitochondrial cytopathies.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Review series: The cell biology of renal filtration.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyFocal segmental glomerulosclerosis: molecular genetics and targeted therapiesRenal involvement in mitochondrial cytopathies.The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.
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P2860
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
@nl
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
@ast
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
@en
type
label
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
@nl
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
@ast
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
@en
prefLabel
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
@nl
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
@ast
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
@en
P2093
P2860
P50
P3181
P356
P1476
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
@en
P2093
Afig Berdeli
Alberto Casarin
Alexis J Sloan
Andreas Kispert
Antje Beissert
Aysin Bakkaloglu
Bernward Hinkes
Bugsu Ovunc
Carlos Santos-Ocaña
Catherine F Clarke
P2860
P304
P3181
P356
10.1172/JCI45693
P407
P50
P577
2011-04-11T00:00:00Z