Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
about
Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraGenes and podocytes - new insights into mechanisms of podocytopathyCrystal Structures of the Network-Forming Short-Arm Tips of the Laminin β1 and γ1 ChainsArg kinase signaling in dendrite and synapse stabilization pathways: memory, cocaine sensitivity, and stressWhole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.Distinct functions of the laminin β LN domain and collagen IV during cardiac extracellular matrix formation and stabilization of alary muscle attachments revealed by EMS mutagenesis in Drosophila.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.The glomerular basement membrane as a barrier to albumin.Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndromeBasement membranes: cell scaffoldings and signaling platforms.Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosisGenetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndromeReview series: The cell biology of renal filtration.Focal segmental glomerulosclerosis: molecular genetics and targeted therapiesFAT1 mutations cause a glomerulotubular nephropathyRare coding variants and X-linked loci associated with age at menarche.Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.Progress in pathogenesis of proteinuria.RNA-binding protein IGF2BP2/IMP2 is required for laminin-β2 mRNA translation and is modulated by glucose concentration.Glomerular basement membrane and related glomerular diseaseLaminin α5 guides tissue patterning and organogenesis.Genetics of anterior segment dysgenesis disorders.ARHGDIA: a novel gene implicated in nephrotic syndromeA novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndromeThe Genetics of Nephrotic Syndrome.Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology.Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytesGlomerular Filtration Barrier Assembly: An insightEnrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.Glomerular basement membrane composition and the filtration barrier.Organogenesis of the kidney glomerulus: focus on the glomerular basement membrane.The glomerular basement membrane.The role of cell-extracellular matrix interactions in glomerular injury.
P2860
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P2860
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
@ast
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
@en
Mutations in the human laminin beta2
@nl
type
label
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
@ast
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
@en
Mutations in the human laminin beta2
@nl
prefLabel
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
@ast
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
@en
Mutations in the human laminin beta2
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
@en
P2093
Aleksandra Zurowska
Alexey Tsygin
Amy F Lewanda
Ana Medeira
Anand Saggar
Ariana Kariminejad
Bernward Hinkes
Detlef Bockenhauer
Eberhard Kuwertz-Bröking
P2860
P304
P356
10.1002/HUMU.21304
P577
2010-09-01T00:00:00Z