Polycystic Kidney Diseases
|
0.900 |
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
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Old-Age Onset Progressive Cardiac Contractile Dysfunction in a Patient with Polycystic Kidney Disease Harboring a PKD1 Frameshift Mutation.
|
30464138 |
2019 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
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
|
0.900 |
Biomarker
|
group |
BEFREE |
Selective inactivation of <i>Sec63</i> in all distal nephron segments in embryonic mouse kidney results in polycystin-1-mediated polycystic kidney disease (PKD).
|
30745418 |
2019 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
BEFREE |
Recent studies have reported intrinsic metabolic reprogramming in Pkd1 knock-out cells, implicating dysregulated cellular metabolism in the pathogenesis of polycystic kidney disease.
|
29426897 |
2018 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.
|
29520754 |
2018 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
BEFREE |
Effect of celastrol on the progression of polycystic kidney disease in a Pkd1-deficient mouse model.
|
30268856 |
2018 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
BEFREE |
Polycystin-1, the product of the polycystic kidney disease gene PKD1, is post-translationally modified by palmitoylation.
|
30073588 |
2018 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
BEFREE |
To determine the relevance of HIF-1α for cyst growth in vivo we used an inducible kidney epithelium-specific knockout mouse to delete Pkd1 at postnatal day 20 or 35 to induce polycystic kidney disease of different severity and analyzed the effects of Hif-1α co-deletion and HIF-1α stabilization using a prolyl-hydroxylase inhibitor.
|
30173898 |
2018 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
|
28378423 |
2017 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
BEFREE |
In this study, we determine that the tubby family protein TULP3 functions as a general adapter for ciliary trafficking of structurally diverse integral membrane cargo, including multiple reported and novel rhodopsin family G protein-coupled receptors (GPCRs) and the polycystic kidney disease-causing polycystin 1/2 complex.
|
28154160 |
2017 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
In this paper, we applied fluid shear stress to study TGF-β signaling in renal epithelial cells with and without expression of the Pkd1-gene, encoding a mechano-sensor mutated in polycystic kidney disease.
|
28168444 |
2017 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
BEFREE |
Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts.
|
28967916 |
2017 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
BEFREE |
In this work, we tested if Pkd1 is essential for development and maintenance of the renal stromal compartment and if this role contributes to pathogenesis of polycystic kidney disease using a novel tissue-specific knockout mouse model.
|
28892094 |
2017 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
|
28973148 |
2017 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
CTD_human |
Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca2+ in knock-out mouse models of polycystic kidney disease.
|
28887310 |
2017 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD).
|
25920554 |
2016 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
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
|
0.900 |
Biomarker
|
group |
BEFREE |
Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease.
|
25361818 |
2015 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
We established and validated a sequence capture based NGS testing approach for all genes known for cystic and polycystic kidney disease including PKD1.
|
25646624 |
2015 |
Polycystic Kidney Diseases
|
0.900 |
Biomarker
|
group |
CTD_human |
Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.
|
25877301 |
2015 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Knockout of the polycystic kidney disease genes PKD1 or PKD2 induces cyst formation from kidney tubules.
|
26493500 |
2015 |
Polycystic Kidney Diseases
|
0.900 |
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
|
0.900 |
GeneticVariation
|
group |
BEFREE |
An autopsy case of subarachnoid hemorrhage due to ruptured cerebral aneurysm associated with polycystic kidney disease caused by a novel PKD1 mutation.
|
25022697 |
2014 |
Polycystic Kidney Diseases
|
0.900 |
GeneticVariation
|
group |
BEFREE |
A new PKD1 mutation discovered in a Chinese family with autosomal polycystic kidney disease.
|
24821069 |
2014 |