|
Polycystic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins.
|
18607645 |
2009 |
|
Polycystic Kidney Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Microarray expression analysis of kidneys from 30-day-old PCK rats revealed increased expression of genes previously identified in PKD renal expression profiles, such as inflammatory response, extracellular matrix synthesis, and cell proliferation genes among others, whereas the FHH.Pkhd1 did not show activation of these common markers of disease.
|
22669842 |
2012 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Oriented cell division (OCD) and convergent extension (CE) shape developing renal tubules, and their disruption has been associated with polycystic kidney disease (PKD) genes, the majority of which encode proteins that localize to primary cilia.
|
29033332 |
2017 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
ADPKD is caused by mutations in the polycystic kidney disease (PKD)1 or PKD2 gene, encoding polycystin (PC)-1 or PC-2, respectively.
|
15563610 |
2005 |
|
Polycystic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Discoidin Domain Receptor 1 (DDR1) tyrosine kinase is upregulated in PKD kidneys but does not play a role in the pathogenesis of polycystic kidney disease.
|
31260458 |
2019 |
|
Polycystic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease.
|
9889186 |
1999 |
|
Polycystic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The G protein-coupled receptor (GPCR) Proteolysis Site (GPS) of cell-adhesion GPCRs and polycystic kidney disease (PKD) proteins constitutes a highly conserved autoproteolysis sequence, but its catalytic mechanism remains unknown.
|
22333914 |
2012 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys.
|
30042193 |
2018 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polycystic kidney disease (PKD) proteins are trans-membrane proteins that have crucial roles in many aspects of vertebrate development and physiology, including the development of many organs as well as left-right patterning and taste.
|
28271061 |
2017 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although extremely rare, TSC and autosomal dominant polycystic kidney disease (ADPKD) can co-exist in the same patient as a result of concurrent deletion of both polycystic kidney disease (PKD) 1 and TSC2 genes present on the chromosome 16p13.3.
|
25519866 |
2014 |
|
Polycystic Kidney Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
To overcome this problem, we previously demonstrated that folate-conjugated rapamycin (FC-rapa) targets polycystic kidneys due to the high expression of the folate receptor (FRα) and that treatment of a nonortholgous PKD mouse model leads to inhibition of renal cyst growth.
|
29717938 |
2018 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polycystin complexes, or TRPP-PKD complexes, made of transient receptor potential channel polycystin (TRPP) and polycystic kidney disease (PKD) proteins, play key roles in coupling extracellular stimuli with intracellular Ca<sup>2+</sup> signals.
|
28154010 |
2017 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
|
22034641 |
2011 |
|
Polycystic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Parallel analysis of mRNA and microRNA microarray profiles to explore functional regulatory patterns in polycystic kidney disease: using PKD/Mhm rat model.
|
23326503 |
2013 |
|
Polycystic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Prompted by the surprising observations that disruption of IFT genes in mice led to polycystic kidney disease (PKD) and that PKD proteins are present on the sensory cilia of Caenorhabditis elegans, researchers have made a direct connection between PKD and cilia.
|
15723088 |
2005 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Based on these in vitro and in vivo observations, we propose that TMEM67 mutations cause PKD through ERK- and JNK-dependent signalling pathways, which may provide novel insight into the therapy of polycystic kidney diseases.
|
23456819 |
2013 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
|
24506938 |
2014 |
|
Polycystic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
By this, we propose a time- and cost-efficient diagnostic strategy for comprehensive molecular genetic testing of polycystic kidney disease which is highly automatable and will be of particular value when therapeutic options for PKD emerge and genetic testing is needed for larger numbers of patients.
|
25646624 |
2015 |