|
Renal cyst
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Mutants develop embryonic renal cysts that appear indistinguishable from mice completely lacking PC2.
|
31492868 |
2019 |
|
Renal cyst
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Previous studies have demonstrated that further postnatal reductions in PKD1 (or PKD2) dose are required for kidney cyst formation, but the exact triggering factors are not clear.
|
31767049 |
2019 |
|
Renal cyst
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Mutations in polycystin-1 (PC1) and polycystin-2 (PC2) result in a commonly occurring genetic disorder, called Autosomal Dominant Polycystic Kidney Disease (ADPKD), that is characterized by the formation and development of kidney cysts.
|
28601384 |
2018 |
|
Renal cyst
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Mutations in the <i>PKD1</i> and <i>PKD2</i> genes, encoding the polycystin 1 and polycystin 2 Ca<sup>2+</sup> ion channels, respectively, result in tubular epithelial cell-derived renal cysts.
|
28993480 |
2017 |
|
Renal cyst
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Herein, we describe and characterize a novel missense mutation in the PKD2 gene (c.1320G>T) in a 41-year-old White man with kidney cysts and a family history of ADPKD.
|
20950398 |
2011 |
|
Renal cyst
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We determined here the effect of sirolimus on renal cyst growth in Pkd2WS25/- mice; an ortholog of human ADPKD involving mutation of the Pkd2 gene.
|
20686448 |
2010 |
|
Renal cyst
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Antagonists of relevant Gs protein-coupled and agonists of relevant Gi protein-coupled receptors lower renal cAMP and inhibit growth of renal cysts in animal models of human ARPKD (PCK rat) and/or ADPKD (Pkd2(-/WS25) mouse).
|
18826972 |
2009 |
|
Renal cyst
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The formation of renal cysts in ADPKD has been attributed to dysfunction of primary cilia and the primary cilia-related proteins polycystin-1 (in 85% of cases) and polycystin-2 in renal epithelial cells.
|
18263686 |
2008 |
|
Renal cyst
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The PKD1 and PKD2 genes are mutated in patients with autosomal dominant polycystic kidney disease (ADPKD), a systemic disease, with the formation of renal cysts as main clinical feature.
|
15770226 |
2005 |
|
Renal cyst
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In keeping with the two-hit mechanism of cyst formation, approximately 70% of kidney cysts in Pkd2 (+/-) mice exhibited uniform loss of polycystin-2 expression.
|
12140187 |
2002 |
|
Renal cyst
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
|
9949210 |
1999 |
|
Renal cyst
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We have studied 30 renal cysts from a patient with PKD2 in which the germline mutation was shown to be a deletion that encompassed most of the disease gene.
|
10417277 |
1999 |