Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. - Wikidata - awgldk - TriplyDB

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q36733594

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Mutations in EMP2 cause childhood-onset nephrotic syndrome Cell biology and genetics of minimal change disease Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era The COQ2 genotype predicts the severity of coenzyme Q10 deficiency Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence 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 injury Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Clinical presentations of coenzyme q10 deficiency syndrome Rare inherited kidney diseases: challenges, opportunities, and perspectives.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Analysis of COQ2 gene in multiple system atrophy.Defining nephrotic syndrome from an integrative genomics perspective.Improving mutation screening in familial hematuric nephropathies through next generation sequencing.Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome.Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.A protocol for the identification and validation of novel genetic causes of kidney disease Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting.Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome Techniques and Approaches to Genetic Analyses in Nephrological Disorders.Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.MAGI-1 Interacts with Nephrin to Maintain Slit Diaphragm Structure through Enhanced Rap1 Activation in Podocytes.Recent advances in understanding and treating nephrotic syndrome.Genetics of hereditary nephrotic syndrome: a clinical review.Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.Genetics and the nephron.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Next-generation sequencing for research and diagnostics in kidney disease.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Childhood nephrotic syndrome in the 21st century: What's new?Podocyte dedifferentiation: a specialized process for a specialized cell.Recurrent focal segmental glomerulosclerosis after kidney transplantation.Molecular diagnosis of coenzyme Q10 deficiency.

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P2860

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q36733594

description

2013 nî lūn-bûn

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

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Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

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type

label

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

@ast

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

@en

prefLabel

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

@ast

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

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Clinical Journal of the American Society of Nephrology

P1476

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

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P2093

Agnieszka Bierzynska

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Ania Koziell

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Caroline Jones

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Hugh J McCarthy

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Larissa Kerecuk

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Leah Krischock

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Manish D Sinha

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Margaret M Williams

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Martin Christian

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Matt Wherlock

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P2860

Disruption of PTPRO causes childhood-onset nephrotic syndrome

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

Human non-synonymous SNPs: server and survey

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

Automated inference of molecular mechanisms of disease from amino acid substitutions.

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

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637-648

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10.2215/CJN.07200712

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4

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8

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Rodney D. Gilbert

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2013-01-24T00:00:00Z

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23349334

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