A missense mutation in PKD1 attenuates the severity of renal disease - Wikidata - awgldk - TriplyDB

A missense mutation in PKD1 attenuates the severity of renal disease

A missense mutation in PKD1 attenuates the severity of renal disease

http://www.wikidata.org/entity/Q33926310

about

A polycystin-centric view of cyst formation and disease: the polycystins revisited Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.Predictors of autosomal dominant polycystic kidney disease progression Kidney: polycystic kidney disease.Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Imaging-based diagnosis of autosomal dominant polycystic kidney disease.Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.Molecular pathways and therapies in autosomal-dominant polycystic kidney disease Autosomal dominant polycystic kidney disease in children.Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.MicroRNAs regulate renal tubule maturation through modulation of Pkd1.Type of PKD1 mutation influences renal outcome in ADPKD.Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease.The importance of quantifying genetic heterogeneity in ADPKD.Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.Novel therapeutic approaches to autosomal dominant polycystic kidney disease.Genetic Mechanisms of ADPKD.Diagnostic Evaluation as a Biomarker in Patients with ADPKD.Emerging Therapies for Childhood Polycystic Kidney Disease.Molecular diagnosis of autosomal dominant polycystic kidney disease.Polycystic Kidney Disease without an Apparent Family History.Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials.Canadians Seeking Solutions and Innovations to Overcome Chronic Kidney Disease (Can-SOLVE CKD): Form and Function.Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.A cleavage product of Polycystin-1 is a mitochondrial matrix protein that affects mitochondria morphology and function when heterologously expressed.Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

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P2860

A missense mutation in PKD1 attenuates the severity of renal disease

http://www.wikidata.org/entity/Q33926310

description

2011 nî lūn-bûn

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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

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2011年論文

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2011年论文

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name

A missense mutation in PKD1 attenuates the severity of renal disease

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A missense mutation in PKD1 attenuates the severity of renal disease

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type

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A missense mutation in PKD1 attenuates the severity of renal disease

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A missense mutation in PKD1 attenuates the severity of renal disease

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prefLabel

A missense mutation in PKD1 attenuates the severity of renal disease

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A missense mutation in PKD1 attenuates the severity of renal disease

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Kidney International

P1476

A missense mutation in PKD1 attenuates the severity of renal disease

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P2093

Elizabeth Dicks

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Kairong Wang

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Miguel Garcia-Gonzalez

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Ning He

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Patrick Parfrey

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Terry Watnick

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York Pei

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Zheng Lan

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P2860

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

Prediction of deleterious human alleles

Diagnosis and screening of autosomal dominant polycystic kidney disease.

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group.

Molecular diagnostics for autosomal dominant polycystic kidney disease

Genetics and pathogenesis of polycystic kidney disease.

Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease.

Modifier genes play a significant role in the phenotypic expression of PKD1.

Assessing kidney function--measured and estimated glomerular filtration rate.

P2888

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10.1038/KI.2011.370

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4

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81

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Gregory Germino

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51748907

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4105019

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