Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
about
Mutations in EMP2 cause childhood-onset nephrotic syndromeCell biology and genetics of minimal change diseaseOpportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraThe COQ2 genotype predicts the severity of coenzyme Q10 deficiencyScreening 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 recurrenceNovel 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 injurySpectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Clinical presentations of coenzyme q10 deficiency syndromeRare 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 immunosuppressionGene-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 diseaseCoinheritance 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 severityScreening 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 SyndromeTechniques 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.
P2860
Q24297429-BAD67CCD-3C79-45D3-A339-E1B3B82C93FBQ26752464-DAD99546-FBD0-4ECB-8A36-991D45DD34CBQ26799197-2909720C-44F4-48C2-A061-240390D0D594Q28118957-AC38096E-EE9F-43C8-9D2F-2335784C4528Q30362814-3B5809EB-47D9-40BE-80C4-AB0D67AF5991Q33660667-90331BDD-9031-44D1-AD0D-ADFC6A4E4762Q33690163-828BD790-6E50-4A11-AA8F-6EFFFCFE7355Q33715807-21682BF1-D106-4A14-A1F0-9354FBA21EA5Q33793389-839A2009-F758-44C4-BA42-19864619FFD6Q33817637-9B89396F-DE19-4470-9144-EFCE07AFE1ABQ33956923-F0017FCA-512B-4663-9322-510504D47B8CQ34054113-5DEB77C3-C445-4CE9-A267-C74C10768E7EQ34445136-0EF45079-A056-4BEB-A8A5-61AD1E2A200FQ34517827-A863CC91-316E-4642-99CC-D65BAA99CAF9Q34560989-F7E5572C-EA4E-4AA7-A6DF-DAC3BE6B94D8Q34568742-51A98A15-9628-4772-9818-66F1132638BCQ34674987-6F4F046E-E478-462B-BFDD-F68F778A39CAQ34787771-E29BEE1A-1C96-42C4-9270-6B80CDD812E9Q35049416-910FE854-ECD3-4D65-A0BC-A064F7BD5874Q35099840-54844833-BCC5-4C59-95B5-B5382EC10EFCQ35776875-962071C7-E70F-4206-8E2A-448C33983ED9Q35952630-CC6C7C19-A99F-4570-B32A-96151A2EF57FQ35959709-99632D51-4A38-47BD-B5F8-6F800EEACD30Q36244569-83FF3793-0823-4682-BBEF-80423755A600Q36543103-CDAF1111-4981-4734-A110-4B8BD004B613Q37032666-19B59645-753B-47F6-A523-73E224D06CC5Q37052033-ADB01FAF-2B31-4926-8C17-FA9E19F58DEFQ37384113-D70F700D-B782-4D6C-B740-73402B3330B3Q37421404-C27A37BC-8FE2-44E1-9F4B-4D6342A9556EQ37635783-547D6878-9956-4CAD-A8DF-2D5A34BFD295Q37740511-133A9F19-5308-4561-9A14-5986235EE94FQ38114930-35057BEF-9DB6-4459-A7C9-2E42AC565B30Q38155839-CD97C5E7-923C-414C-B359-B3C74155B767Q38193693-566701A0-BE63-4D17-B7F2-F22FCED958E2Q38219045-B6282117-59C1-4417-B76F-F6E6DB8CC7F3Q38236847-67B8460C-3123-4704-834D-9851C95AE973Q38255356-131703E2-93D5-46A2-B138-F35069ADFD3EQ38261014-07A7033B-F200-4297-99AE-2320D7102A2EQ38359297-5E2079DB-D61B-4A2D-9AFB-6B0B5B96A0EAQ38542981-893A17C0-5DCD-4132-81B6-52D8E5A8ED4B
P2860
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
@ast
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
@en
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.
@en
P2093
P2860
P50
P356
P1476
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
@en
P2093
Agnieszka Bierzynska
Ania Koziell
Caroline Jones
Hugh J McCarthy
Larissa Kerecuk
Leah Krischock
Manish D Sinha
Margaret M Williams
Martin Christian
Matt Wherlock
P2860
P304
P356
10.2215/CJN.07200712
P577
2013-01-24T00:00:00Z