Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis
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- 資料種別
- 記事
- 著者・編者
- Yutaka Harita
- 出版年月日等
- 2017-07-27
- 出版年（W3CDTF）
- 2017-07-27
- タイトル（掲載誌）
- Clinical and experimental nephrology : official publication of the Japanese Society of Nephrology
- 巻号年月日等（掲載誌）
- 22(3)
- 掲載巻
- 22(3)
- ISSN（掲載誌）
- 1437-7799
- ISSN-L（掲載誌）
- 1437-7799
- 本文の言語コード
- eng
- DOI
- 10.1007/s10157-017-1449-y
- 国立国会図書館永続的識別子
- info:ndljp/pid/11636151
- コレクション（共通）
- コレクション（障害者向け資料：レベル1）
- コレクション（個別）
- 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他
- 収集根拠
- オンライン資料収集制度
- 受理日（W3CDTF）
- 2021-02-10T20:40:42+09:00
- 保存日（W3CDTF）
- 2021-01-27
- 記録形式（IMT）
- application/pdf
- オンライン閲覧公開範囲
- 国立国会図書館内限定公開
- デジタル化資料送信
- 図書館・個人送信対象外
- 遠隔複写可否（NDL）
- 可
- 掲載誌（国立国会図書館永続的識別子）
- info:ndljp/pid/11636150
- 連携機関・データベース
- 国立国会図書館 : 国立国会図書館デジタルコレクション
- 要約等
- コレクション : 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他
- DOI
- 10.1007/s10157-017-1449-y
- 関連情報（URI）
- 参照
- In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental GlomerulosclerosisFocal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation
- 参照
- Decreased glomerular filtration as the primary factor of elevated circulating suPAR levels in focal segmental glomerulosclerosisAnalysis of protein-coding genetic variation in 60,706 humansTransgenic expression of human APOL1 risk variants in podocytes induces kidney disease in miceHuman laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesPodocyte injury and its consequencesAltered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndromeMutations in PAX2 Associate with Adult-Onset FSGSA Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic SyndromeNPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese childrenSequencing studies in human genetics: design and interpretationBiallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic SyndromeA circulating permeability factor in focal segmental glomerulosclerosis: the hunt continuesStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyRecent Progress in the Pathophysiology and Treatment of FSGS RecurrenceNovel unbiased assay for circulating podocyte-toxic factors associated with recurrent focal segmental glomerulosclerosisA multicenter cross-sectional study of circulating soluble urokinase receptor in Japanese patients with glomerular diseaseCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessGenotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 MutationsGuidelines for investigating causality of sequence variants in human diseaseFocal Segmental GlomerulosclerosisNext-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutationsThe actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine AInitial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant RecurrenceMutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosisScreening for NPHS2 Mutations May Help Predict FSGS Recurrence after TransplantationMutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndromeRapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid–Resistant Nephrotic SyndromeClinical features and mutational survey of <i>NPHS2</i> (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantationDefects of CRB2 Cause Steroid-Resistant Nephrotic SyndromeGenotype–phenotype associations in WT1 glomerulopathyDealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencingCarrier Testing for Severe Childhood Recessive Diseases by Next-Generation SequencingExploring the genetic basis of early-onset chronic kidney diseaseNPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndromeEvaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritabilityA role for genetic susceptibility in sporadic focal segmental glomerulosclerosisTargeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityFocal Segmental GlomerulosclerosisMutational analysis of the <i>PLCE1</i> gene in steroid resistant nephrotic syndromeSpectrum of LMX1B mutations: from nail–patella syndrome to isolated nephropathyPartial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutationThirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndromeClinical Exome Sequencing for Genetic Identification of Rare Mendelian DisordersGenetic Misdiagnoses and the Potential for Health DisparitiesSpectrum of mutations in Chinese children with steroid-resistant nephrotic syndromeTyrosine Kinase Signaling in Kidney Glomerular PodocytesCollagen (<i>COL4A</i>) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisPositional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleProgression of glomerular diseases: Is the podocyte the culprit?LAMB2 mutation with different phenotypes in ChinaPlasma Exchange and Retransplantation in Recurrent Nephrosis of Patients With Congenital Nephrotic Syndrome of the Finnish Type (NPHS1)Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic SyndromeClinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical TrialCRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-FetoproteinIncrease of Integrin-Linked Kinase Activity in Cultured Podocytes upon Stimulation with Plasma from Patients with Recurrent FSGSPathologic classification of focal segmental glomerulosclerosis: a working proposalGenomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease managementCongenital nephrotic syndrome and recurrence of proteinuria after renal transplantationAnalysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndromeADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionResolution of Recurrent Focal Segmental Glomerulosclerosis after RetransplantationNPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated alleleDifferential Effects of MYH9 and APOL1 Risk Variants on FRMD3 Association with Diabetic ESRD in African AmericansHeterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to ImmunosuppressionTRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosisMutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosisPodocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrinRECURRENCE OF NEPHROTIC SYNDROME IN KIDNEY GRAFTS OF PATIENTS WITH CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPECOQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing LossMutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndromePositionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic SyndromeFocal segmental glomerulosclerosis: towards a better understanding for the practicing nephrologistNPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrencePodocyte foot process effacement as a diagnostic tool in focal segmental glomerulosclerosisFocal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutationsSimultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome
- 連携機関・データベース
- 国立情報学研究所 : CiNii Research
- 提供元機関・データベース
- 雑誌記事索引データベースCrossref科学研究費助成事業データベース科学研究費助成事業データベース科学研究費助成事業データベースCrossrefCrossref
- 書誌ID（NDLBibID）
- 11636151