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M. Losekoot et al.
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York Pei et al.
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Anna Rachel Gallagher et al.
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Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD
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Ruhee Dere et al.
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Sony Prasad et al.
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Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice
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Ali K. Ahrabi et al.
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Barbara Tazon-Vega et al.
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Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease
Peter C. Harris et al.
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Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models
Ming Yang Chang et al.
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The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease
JM Shillingford et al.
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ST Jiang et al.
AMERICAN JOURNAL OF PATHOLOGY (2006)
Modifier genes play a significant role in the phenotypic expression of PKD1
PR Fain et al.
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Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease
AD Paterson et al.
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Genome-wide association studies: Theoretical and practical concerns
WYS Wang et al.
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A transcriptional network in polycystic kidney disease
L Gresh et al.
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Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease
IS Lantinga-van Leeuwen et al.
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Comparison between siblings and twins supports a role for modifier genes in ADPKD
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The influence of G-protein beta(3)-subunit gene and endothelial nitric oxide synthase gene in exon 7 polymorphisms on progression of autosomal dominant polycystic kidney disease
J Reiterova et al.
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Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype
S Rossetti et al.
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The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1
D Walker et al.
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Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease
GQ Wu et al.
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Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease
AD Paterson et al.
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The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease
S Rossetti et al.
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Modifier effect of ENOS in autosomal dominant polycystic kidney disease
A Persu et al.
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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
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Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes
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Y Pei et al.
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T Watnick et al.
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