|
Polycystic Kidney Diseases
|
0.700 |
AlteredExpression
|
group |
BEFREE |
These data suggest that polycystin-2 functions as a calcium-activated intracellular calcium release channel in vivo and that polycystic kidney disease results from the loss of a regulated intracellular calcium release signalling mechanism.
|
11854751 |
2002 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Aberrant activation of the mammalian target of rapamycin (mTOR) pathway occurs in polycystic kidney disease (PKD). mTOR inhibitors, such as rapamycin, are highly effective in several rodent models of PKD, but these models result from mutations in genes other than Pkd1 and Pkd2, which are the primary genes responsible for human autosomal dominant PKD.
|
20075061 |
2010 |
|
Polycystic Kidney Diseases
|
0.700 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemical studies have shown that polycystin 1 and polycystin 2 are developmentally regulated and are overexpressed in polycystic kidneys.
|
9529618 |
1998 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
|
10541293 |
1999 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
An mTOR anti-sense oligonucleotide decreases polycystic kidney disease in mice with a targeted mutation in Pkd2.
|
24847003 |
2014 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Here, we provide a comprehensive review of these significant advances as well as those related to disease pathogenesis models, including mutation analysis of PKD1 and PKD2 (encoding polycystin 2), current mutation detection rate, allelic heterogeneity, genotype and phenotype relationships (in terms of three different inheritance patterns: classical autosomal dominant inheritance, complex inheritance, and somatic and germline mosaicism), modifier genes, the role of second somatic mutation hit in renal cystogenesis, and findings from mouse models of polycystic kidney disease.
|
25263802 |
2014 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Polycystic Kidney Disease (PKD), which is attributable to mutations in the PKD1 and PKD2 genes encoding polycystin-1 (PC1) and polycystin-2 (PC2) respectively, shares common cellular defects with cancer, such as uncontrolled cell proliferation, abnormal differentiation and increased apoptosis.
|
31251475 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Polycystin-2 is a novel cation channel implicated in defective intracellular Ca(2+) homeostasis in polycystic kidney disease.
|
11264013 |
2001 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Various polycystic kidney disease (PKD) animal models including Pkd1- or Pkd2-deficient mice have been developed and efficiently utilized to identify novel therapeutic targets as well as elucidate multiple mechanisms of cyst formation in PKD.
|
27730436 |
2016 |
|
Polycystic Kidney Diseases
|
0.700 |
AlteredExpression
|
group |
BEFREE |
We examined the effects of a P2X7 receptor antagonist and a P2X7 receptor agonist on cyst development in a zebrafish model of polycystic kidney disease in which we knocked down pkd2 by morpholinos.
|
21636640 |
2011 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Male worm mating requires lov-1 and pkd-2 (homologs of the human polycystic kidney disease genes, PKD1 and PKD2), which are expressed in male-specific neurons.
|
26702651 |
2015 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
In PCK rats and Pkd2(ws25/-) mice, VK3 reduced liver and kidney weights and hepato-renal cystic and fibrotic areas by 18%-34%.
|
22155366 |
2012 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts.
|
30652979 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
AlteredExpression
|
group |
BEFREE |
In cultured fibroblasts derived from these fetuses, the expression of prominent polycystic kidney disease genes (PKD1 and PKD2) was decreased, whereas the oncogene c-MYC was upregulated, providing potential explanations for the observed renal phenotype.
|
23418306 |
2013 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
This structure reveals that of the five Ig-like polycystic kidney disease (PKD) domains in AAVR, PKD2 binds directly to the spike region of the AAV2 capsid adjacent to the icosahedral three-fold axis.
|
30742069 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Polycystic kidney disease (PKD) is a common genetic disorder characterized by formations of numerous cysts in kidneys and most caused by PKD1 or PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
|
31399962 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Characterization of the murine polycystic kidney disease (Pkd2) gene.
|
9716661 |
1998 |
|
Polycystic Kidney Diseases
|
0.700 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Molecular pathogenesis of ADPKD: the polycystin complex gets complex.
|
15780076 |
2005 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
LHGDN |
These data suggest that polycystin-2 functions as a calcium-activated intracellular calcium release channel in vivo and that polycystic kidney disease results from the loss of a regulated intracellular calcium release signalling mechanism.
|
11854751 |
2002 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
MGD |
|
|
|
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice.
|
26435415 |
2015 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.
|
11891195 |
2002 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
|
9326320 |
1997 |