Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis - Wikidata - awgldk - TriplyDB

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

http://www.wikidata.org/entity/Q34577537

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Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era Genes and podocytes - new insights into mechanisms of podocytopathy Translating genetic findings in hereditary nephrotic syndrome: the missing loops Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease Focal segmental glomerulosclerosis: molecular genetics and targeted therapies Podocyte Depletion in Thin GBM and Alport Syndrome.X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations A COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy.Thrombotic microangiopathy: expanding genetic, clinical and therapeutic spectra and the need for worldwide implementation of recent advances 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.The Genetics of Nephrotic Syndrome.A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.Podocyte number and density changes during early human life.Accelerated podocyte detachment and progressive podocyte loss from glomeruli with age in Alport Syndrome.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Minimal change disease and idiopathic FSGS: manifestations of the same disease.Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations.Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.Multiple Targets for Novel Therapy of FSGS Associated with Circulating Permeability Factor.Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome.Genomic medicine for kidney disease.Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.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.Hereditary Podocytopathies in Adults: The Next Generation.Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.COL4A3 mutations cause focal segmental glomerulosclerosis.Steroid-resistant nephrotic syndrome caused by novel WT1 mutation inherited from a mosaic parent.Monogenic Causes of Proteinuria in Children.Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis.Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population

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Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

http://www.wikidata.org/entity/Q34577537

description

2014 nî lūn-bûn

@nan

2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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type

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Kidney International

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Rare hereditary COL4A3/COL4A4 ...... l segmental glomerulosclerosis

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Alison Homstad

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Andrea S Alonso

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Andrew F Malone

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Andrey S Shaw

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David N Howell

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Gentzon Hall

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Guanghong Wu

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J Charles Jennette

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Michelle P Winn

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Nicholas J A Webb

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

Treatment of primary FSGS in adults

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers.

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.

A new locus for familial FSGS on chromosome 2p

SVA: software for annotating and visualizing sequenced human genomes

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10.1038/KI.2014.305

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Adebowale Adeyemo

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