Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus.
|
2370053 |
1990 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Assuming that a clinic population represents the most severe forms of a disease and non PKD-1 is a less aggressive phenotype, the degree of genetic heterogeneity for APKD in the population may well be much greater than at present suggested.
|
8261645 |
1993 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Direct sequence analysis of exons encoding all the 16 PKD domains was performed on PCR products from a group of 24 unrelated patients with autosomal dominant polycystic kidney disease (ADPKD [MIM 173900]).
|
10364515 |
1999 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The fact that most mutations from ADPKD patients result in truncated polycystins as well as evidence of a loss of heterozygosity mechanism in individual PKD cysts indicate that the loss of the function of either PKD1 or PKD2 is the most likely pathogenic mechanism for ADPKD.
|
10655152 |
2000 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
The molecular basis of severe childhood PKD in typical ADPKD families remains unclear; it may include segregation of modifying genes or unidentified factors and the two-hit mechanism.
|
11287778 |
2001 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study not only produced an invaluable and first PKD model to evaluate molecular pathogenesis and therapies but also provides evidence that gain of function could be a pathogenetic mechanism in ADPKD.
|
16449663 |
2006 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gender, gender of parent who transmitted PKD, family history of essential hypertension, multiparity, and use of the oral contraceptive pill were not identified as risk factors for renal events in ADPKD.
|
17699277 |
2006 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here we utilized different kidney cell-lines expressing wild-type and mutant PKD2 as well as primary tubular epithelial cells isolated from a PKD transgenic rat to further explore the contribution of the p21/Cdk2 pathway in ADPKD proliferation.
|
18721488 |
2008 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Based on the identification of pathways altered in PKD, a large number of preclinical studies have been performed and are underway, providing a basis for clinical trials in ADPKD and helping the design of future trials.
|
21625823 |
2011 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
A therapeutic intervention targeting aberrant cilia-cell cycle connection using CDK-inhibitor R-roscovitine showed effective arrest of PKD in jck and cpk models that are not orthologous to human ADPKD.
|
23032260 |
2012 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, we found the similar expression patterns of deregulated genes between PKD/Mhm (cy/+) rat and human ADPKD, PKD1(L3/L3), PKD1(-/-), Hnf1α-deficient, and Glis2(lacZ/lacZ) models.
|
23326503 |
2013 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In human subjects we found an association between ADPKD and IDCM and suggest that PKD mutations contribute to the development of heart failure.
|
23376035 |
2013 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
We show that mutation of PKD1 results in enhanced glycolysis in cells in a mouse model of PKD and in kidneys from humans with ADPKD.
|
23524344 |
2013 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
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, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The present study is the first detailed analysis of both PKD genes in a cohort of Czech patients with ADPKD using High Resolution Melting analysis (HRM) and Multiplex Ligation-dependent Probe Amplification (MLPA).
|
24694054 |
2014 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR) PCR sequencing and targeted next-generation sequencing (targeted DNA-HiSeq).
|
24821069 |
2014 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the majority of mice, these changes preceded a rapid and massive onset of severe PKD that was remarkably similar to human ADPKD.
|
25361818 |
2015 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
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, Autosomal Dominant
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This study not only provides one of the mechanisms of how c-Myc is upregulated in PKD but also suggests that targeting Brd4 with JQ1 may function as a novel epigenetic approach in ADPKD.
|
25877301 |
2015 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
PLD co-exists with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive PKD as well as occurs alone (i.e., Autosomal Dominant Polycystic Liver Disease [ADPLD]).
|
25915482 |
2017 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD.
|
26139440 |
2016 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mutation screening of PKD genes in Chinese ADPKD patients will enrich our mutation database and significantly contribute to improve genetic counselling for ADPKD patients.
|
26632257 |
2015 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial.
|
27484667 |
2017 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Severe neonatal autosomal-dominant polycystic kidney disease (ADPKD) is rare and easily confused with recessive PKD.
|
28194574 |
2017 |
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic deletion of the miR-17∼92 cluster inhibits cyst proliferation and PKD progression in four orthologous, including two long-lived, mouse models of ADPKD.
|
28205547 |
2017 |