Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. - Wikidata - wikimedia - TriplyDB

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

http://www.wikidata.org/entity/Q42927109

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Autosomal dominant polycystic kidney disease: the last 3 years 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 Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy Experimental therapies and ongoing clinical trials to slow down progression of ADPKD Polycystic kidney disease - where gene dosage counts Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy Autosomal dominant polycystic kidney disease: recent advances in clinical management A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers.Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy Polycystin-1 regulates actin cytoskeleton organization and directional cell migration through a novel PC1-Pacsin 2-N-Wasp complex.PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data.Determinants of renal disease variability in ADPKD.Molecular advances in autosomal dominant polycystic kidney disease.Murine Models of Polycystic Kidney Disease.Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.A missense mutation in PKD1 attenuates the severity of renal disease Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease.High Resolution Melt analysis for mutation screening in PKD1 and PKD2.Interpretation of array comparative genome hybridization data: a major challenge.Molecular diagnostics for autosomal dominant polycystic kidney disease The cell biology of polycystic kidney disease MicroRNAs and Polycystic Kidney Disease.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.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 Kidney: polycystic kidney disease.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.Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis Imaging-based diagnosis of autosomal dominant polycystic kidney disease.Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

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Incompletely penetrant PKD1 al ...... in polycystic kidney disease.

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Incompletely penetrant PKD1 al ...... in polycystic kidney disease.

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Incompletely penetrant PKD1 al ...... in polycystic kidney disease.

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Dominique Chauveau

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Katharina Hopp

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Lesley Rees

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Mark B Consugar

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Patrick Niaudet

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Peter C Harris

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Sandro Rossetti

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Sharon W Horsley

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Sushmita Roy

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T Martin Barratt

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P2860

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

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

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

The PLAT domain: a new piece in the PKD1 puzzle

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

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

Amino acid difference formula to help explain protein evolution

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family

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

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