Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
about
From bowel to kidneys: the role of cubilin in physiology and diseasePodocyte endocytosis in the regulation of the glomerular filtration barrierGenetic testing in steroid-resistant nephrotic syndrome: when and how?Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Exploring the genetic basis of early-onset chronic kidney disease.Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityInherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Proximal Tubules Have the Capacity to Regulate Uptake of Albumin.Hereditary intrinsic factor deficiency in chaldeans.Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsThe proximal tubule and albuminuria: really!Netrin-1, a urinary proximal tubular injury marker, is elevated early in the time course of human diabetes.The association of a single-nucleotide polymorphism in CUBN and the risk of albuminuria and cardiovascular disease.Tubular injury marker netrin-1 is elevated early in experimental diabetesThe role of maternal-fetal cholesterol transport in early fetal life: current insights.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Familial FSGS.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.The nephrologist of tomorrow: towards a kidney-omic future.The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.Proteinuria in Dent disease: a review of the literature.Kidney proximal tubular epithelial-specific overexpression of netrin-1 suppresses inflammation and albuminuria through suppression of COX-2-mediated PGE2 production in streptozotocin-induced diabetic mice.Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomicsGenetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Genome-wide association studies of albuminuria: towards genetic stratification in diabetes?Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.Patient Engagement in Kidney Research: Opportunities and Challenges Ahead.The Benefits of Tubular Proteinuria: An Evolutionary Perspective.Lessons from CKD-Related Genetic Association Studies-Moving Forward.Generation of Functioning Nephrons by Implanting Human Pluripotent Stem Cell-Derived Kidney Progenitors.A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.Monogenic Causes of Proteinuria in Children.
P2860
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P2860
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին 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
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
@ast
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
@en
type
label
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
@ast
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
@en
prefLabel
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
@ast
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
@en
P2093
P2860
P50
P356
P1476
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
@en
P2093
Bugsu Ovunc
Dominik Schoeb
Engin Yilmaz
Friedhelm Hildebrandt
Gil Chernin
Gokul Ramaswami
Pawaree Saisawat
Robert H Lyons
Shazia Ashraf
P2860
P304
P356
10.1681/ASN.2011040337
P577
2011-09-08T00:00:00Z