Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn
about
Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagenA miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathyWhole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney diseaseEpistatic 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 ageingFamilial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigreesMultiple 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.Podocyte 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 CorrelationsMicroscopic Haematuria and Clinical Outcomes in Patients With Stage 3-5 Nondiabetic Chronic Kidney Disease.A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.The Genetics of Nephrotic Syndrome.X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.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.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 approachThe 2014 International Workshop on Alport Syndrome.X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.COL4A3 mutations cause focal segmental glomerulosclerosis.Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane.COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
P2860
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P2860
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Clinico-pathological correlati ...... o proteinuria and chronic kidn
@en
Clinico-pathological correlati ...... o proteinuria and chronic kidn
@nl
type
label
Clinico-pathological correlati ...... o proteinuria and chronic kidn
@en
Clinico-pathological correlati ...... o proteinuria and chronic kidn
@nl
prefLabel
Clinico-pathological correlati ...... o proteinuria and chronic kidn
@en
Clinico-pathological correlati ...... o proteinuria and chronic kidn
@nl
P2093
P356
P1476
Clinico-pathological correlati ...... l segmental glomerulosclerosis
@en
P2093
Alkis Pierides
Avraam Elia
Charalambos Patsias
Ioanna Zouvani
Kyriacos Ioannou
Kyriacos Kyriacou
Loukas Damianou
Maria Arsali
Michael Pierides
Michalis Zavros
P304
P356
10.1093/NDT/GFP158
P407
P577
2009-04-08T00:00:00Z