Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. - sprookjes - yvandenbroek - TriplyDB

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

http://www.wikidata.org/entity/Q34228262

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A polycystin-centric view of cyst formation and disease: the polycystins revisited ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies Polycystin-1: a master regulator of intersecting cystic pathways Spanish guidelines for the management of autosomal dominant polycystic kidney disease Ex vivo modeling of chemical synergy in prenatal kidney cystogenesis Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects MicroRNAs and Polycystic Kidney Disease.Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease Molecular pathways and therapies in autosomal-dominant polycystic kidney disease Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity Congenital anomalies of the kidney and urinary tract: a genetic disorder?The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.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.Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.Cystic kidney diseases: many ways to form a cyst.LRP5 variants may contribute to ADPKD Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.The Polycystin-1, Lipoxygenase, and α-Toxin Domain Regulates Polycystin-1 Trafficking.Current insights into renal ciliopathies: what can genetics teach us?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.Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease.Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease.Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.Advances in renal genetic diagnosis.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.Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease Variable Cyst Development in Autosomal Dominant Polycystic Kidney Disease: The Biologic Context.Diagnostic Evaluation as a Biomarker in Patients with ADPKD.Emerging Therapies for Childhood Polycystic Kidney Disease.

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P2860

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

http://www.wikidata.org/entity/Q34228262

description

2011 nî lūn-bûn

@nan

2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

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

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2011年論文

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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

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@ast

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@en

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@nl

type

label

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@ast

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@en

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@nl

prefLabel

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@ast

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@en

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@nl

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P1433

Journal of the American Society of Nephrology

P1476

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

@en

P2093

Andreas Venghaus

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

Annegret Buske

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Antónia Santos

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

Carsten Bergmann

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Henry Fehrenbach

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Jan U Becker

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Jennifer von Bothmer

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Jon Jonsson

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Julia Hoefele

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Klaus Zerres

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P2860

Disruption of a ciliary B9 protein complex causes Meckel syndrome

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function

When cilia go bad: cilia defects and ciliopathies

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

Polycystic kidney disease.

Molecular diagnostics for autosomal dominant polycystic kidney disease

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia.

P304

2047-2056

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scholarly article

P356

10.1681/ASN.2010101080

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P433

11

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P478

22

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Jose Carlos Ferreira

P577

2011-10-27T00:00:00Z

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P5875

51752257

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22034641

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3279997

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