Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. - Wikidata - awgldk - TriplyDB

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

http://www.wikidata.org/entity/Q35153173

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A polycystin-centric view of cyst formation and disease: the polycystins revisited Polycystin-1: a master regulator of intersecting cystic pathways Spanish guidelines for the management of autosomal dominant polycystic kidney disease Polycystic kidney disease - where gene dosage counts Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.A missense mutation in PKD1 attenuates the severity of renal disease Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.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.Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.Molecular pathways and therapies in autosomal-dominant polycystic kidney disease Identification of Biomarkers for PKD1 Using Urinary Exosomes.Characteristics of renal cystic and solid lesions based on contrast-enhanced computed tomography of potential kidney donors Dose-dependent effects of sirolimus on mTOR signaling and polycystic kidney disease The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.Utilizing magnetization transfer imaging to investigate tissue remodeling in a murine model of autosomal dominant polycystic 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.Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.MicroRNAs regulate renal tubule maturation through modulation of Pkd1.LRP5 variants may contribute to ADPKD Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.Current insights into renal ciliopathies: what can genetics teach us?Simple Renal Cysts as Markers of Thoracic Aortic Disease.Type of PKD1 mutation influences renal outcome in ADPKD.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease.Hereditary polycystic kidney disease: genetic diagnosis and counseling.Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.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.Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease.Third-hit signaling in renal cyst formation.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.

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P2860

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

http://www.wikidata.org/entity/Q35153173

description

2010 nî lūn-bûn

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2010 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

@ast

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

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type

label

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

@ast

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

@en

prefLabel

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

@ast

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

@en

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P1433

Journal of the American Society of Nephrology

P1476

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

@en

P2093

Arseni Markoff

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Bengt Rudenhed

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Charlotte Orndal

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Christina M Heyer

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Elisabet Ars

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Katharina Hopp

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Mihailo Vujic

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Nadja Bogdanova

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Peter C Harris

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Roser Torra

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P2860

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

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

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

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

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

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

Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin.

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1097-1102

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10.1681/ASN.2009101070

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7

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21

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2010-06-17T00:00:00Z

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20558538

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3152226

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