Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Biomarker disease BEFREE In July 2016, the PKD Outcomes Consortium under the auspices of the Critical Path Institute and the PKD Foundation convened a PKD Summit to facilitate a discussion among patients, regulators, pharmaceutical sponsors, and academic clinical trialists regarding trial end points and the regulatory path to approval of new drugs for ADPKD. 30600104 2019
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE However, genetic deletion of DDR1 using CRISPR/Cas9 failed to slow cyst growth or preserve kidney function in both a rapid and slow mouse model of ADPKD demonstrating that DDR1 does not play a role in PKD pathogenesis and is thus a not viable drug target. 31260458 2019
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 Biomarker disease BEFREE The molecular mechanisms that link cilia function with renal cystic diseases are not well understood, and the mechanistic relationship between ADPKD and ciliopathic PKD is not known. 30799240 2019
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 Biomarker disease BEFREE High levels of IL-13, a STAT6-activating cytokine, are found in the cyst fluid of PKD mouse models and increased IL-13 receptors in ADPKD patient tissue, suggesting that a positive feedback loop exists between IL-13 and STAT6 is activated in cystic epithelial cells and contributes to disease progression. 29513071 2018
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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