|
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutational analyses of both PKD genes were performed in 120 Chinese families with inherited ADPKD using long-range PCR and targeted next-generation sequencing approaches.
|
29529603 |
2018 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The 16 novel PKD gene mutation sites and two novel PKD2 gene mutation sites discovered in this study have some significance in genetic counseling for ADPKD patients, and increase the number of studied families and expand the mutation database of ADPKD.
|
31056860 |
2019 |
|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
A set of 90 unrelated families with ADPKD were subjected to mutational analyses of PKD genes.
|
30333007 |
2018 |
|
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 |
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations of PKD or non-PKD genes.
|
28927462 |
2017 |
|
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials.
|
29306517 |
2018 |
|
Polycystic Kidney, Autosomal Dominant
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To determine the interrelationship of seminal megavesicles (seminal vesicles with lumen diameter > 10mm) and prostatic cysts in ADPKD and to determine whether there are associations with PKD gene mutations.
|
30230107 |
2019 |
|
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 |
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 |
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 |
However, the trial is likely to be supported by the ADPKD community and could impact significantly on PKD management and associated healthcare costs.
|
28616208 |
2017 |
|
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 |
The Standardised Outcomes in Nephrology-Polycystic Kidney Disease (SONG-PKD) project aims to establish a consensus-based set of core outcomes for trials in PKD (with an initial focus on ADPKD but inclusive of all stages) that patients and health professionals identify as critically important.
|
29169385 |
2017 |
|
Polycystic Kidney, Autosomal Dominant
|
0.100 |
Biomarker
|
disease |
BEFREE |
Importantly, RGLS4326 demonstrates a favorable preclinical safety profile and attenuates cyst growth in human in vitro ADPKD models and multiple PKD mouse models after subcutaneous administration.
|
31515477 |
2019 |
|
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial.
|
27484667 |
2017 |