Type of PKD1 mutation influences renal outcome in ADPKD. - Wikidata - wikimedia - TriplyDB

Type of PKD1 mutation influences renal outcome in ADPKD.

Type of PKD1 mutation influences renal outcome in ADPKD.

http://www.wikidata.org/entity/Q36880400

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Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice Macrophage Migration Inhibitory Factor in Clinical Kidney Disease 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 Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.Screening for Unruptured Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Survey of 420 Nephrologists Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study.Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.Temporal and geographical external validation study and extension of the Mayo Clinic prediction model to predict eGFR in the younger population of Swiss ADPKD patients.Novel functional complexity of polycystin-1 by GPS cleavage in vivo: role in polycystic kidney disease Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.Predictors of autosomal dominant polycystic kidney disease progression Polycystic kidney disease: Kidney volume--a crystal ball for ADPKD prognosis?Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry.Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.Imaging-based diagnosis of autosomal dominant polycystic kidney disease.Clinical characteristics and disease predictors of a large Chinese cohort of patients with autosomal dominant polycystic kidney disease Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.Altered trafficking and stability of polycystins underlie polycystic kidney disease.Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.Aquaporin-1 retards renal cyst development in polycystic kidney disease by inhibition of Wnt signaling.Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease in children.Identification of Biomarkers for PKD1 Using Urinary Exosomes.The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease Anthropometric and Metabolic Risk Factors for ESRD Are Disease-Specific: Results from a Large Population-Based Cohort Study in Austria.Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease: A Canadian Expert Consensus.Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease LRP5 variants may contribute to ADPKD Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease.mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex.

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P2860

Type of PKD1 mutation influences renal outcome in ADPKD.

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Type of PKD1 mutation influences renal outcome in ADPKD.

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Journal of the American Society of Nephrology

P1476

Type of PKD1 mutation influences renal outcome in ADPKD.

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P2093

Anne Grall-Jezequel

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Bassem Whebe

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Christophe Charasse

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Claude Férec

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Emilie Cornec-Le Gall

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Eric Renaudineau

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Jian-Min Chen

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Marie-Pascale Morin

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Marie-Paule Guillodo

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Marie-Pierre Audrézet

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P2860

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

Human non-synonymous SNPs: server and survey

MutationTaster evaluates disease-causing potential of sequence alterations

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.

Determinants of renal disease variability in ADPKD.

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

A missense mutation in PKD1 attenuates the severity of renal disease

GJB2 mutations and degree of hearing loss: a multicenter study.

Low birth weight is associated with earlier onset of end-stage renal disease in Danish patients with autosomal dominant polycystic kidney disease.

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1006-1013

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10.1681/ASN.2012070650

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6

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24

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2013-02-21T00:00:00Z

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235691623

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23431072

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3665389

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