COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
about
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritisA novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagenIncidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy.A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathyIncidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based studyEpistatic role of the MYH9/APOL1 region on familial hematuria genes.Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageingScreening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigreesCOL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment.Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related DisordersPodocyte Depletion in Thin GBM and Alport Syndrome.The role of molecular genetics in diagnosing familial hematuria(s).X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsA functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.Cytokine gene polymorphisms: Can these differentiate renal disease entities?Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.Alzheimer disease pathology as a host responseX-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.Alport syndrome: facts and opinions.Genetic testing can resolve diagnostic confusion in Alport syndrome.A biomimetic gelatin-based platform elicits a pro-differentiation effect on podocytes through mechanotransduction.New developments in steroid-resistant nephrotic syndrome.How benign is hematuria? Using genetics to predict prognosis.Molecular genetics of familial hematuric diseases.Evidence for activation of the unfolded protein response in collagen IV nephropathiesAccelerated podocyte detachment and progressive podocyte loss from glomeruli with age in Alport Syndrome.Haematuria as a risk factor for chronic kidney disease progression in glomerular diseases: A review.Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.Co-existence of thin basement membrane nephropathy with other glomerular pathologies; a single center experience.Reporting renal biopsies from Cyprus: a systematic approachAssociation of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans.
P2860
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P2860
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@ast
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@en
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@en-gb
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@nl
type
label
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@ast
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@en
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@en-gb
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@nl
prefLabel
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@ast
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@en
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@en-gb
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@nl
P2093
P3181
P356
P1476
COL4A3/COL4A4 mutations produc ...... basement membrane nephropathy
@en
P2093
Alkis Pierides
Charalampos Patsias
Efstathios Alexopoulos
Ioanna Zouvani
Konstantinos Voskarides
Kyriacos Ioannou
Kyriacos Kyriacou
Loukas Damianou
Stalo Christodoulidou
Valsamakis Hadjiconstantinou
P304
P3181
P356
10.1681/ASN.2007040444
P407
P577
2007-11-01T00:00:00Z