Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Three hTERT-immortalized RC cell lines were characterized as proximal epithelial cells with germline and somatic PKD1 mutations.
|
31186083 |
2019 |
Renal cyst
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Previous studies have demonstrated that further postnatal reductions in PKD1 (or PKD2) dose are required for kidney cyst formation, but the exact triggering factors are not clear.
|
31767049 |
2019 |
Renal cyst
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Mutations in polycystin-1 (PC1) and polycystin-2 (PC2) result in a commonly occurring genetic disorder, called Autosomal Dominant Polycystic Kidney Disease (ADPKD), that is characterized by the formation and development of kidney cysts.
|
28601384 |
2018 |
Renal cyst
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Growing evidence supports the theory that the severity and rate of progression of kidney cysts is correlated with the level of functional PC1 expressed in the primary cilia.
|
30073588 |
2018 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We have recently shown in the Pkd1 mouse that Gen 2 antisense oligonucleotide (ASO), which suppresses angiotensinogen (Agt) synthesis, is efficacious in slowing kidney cyst formation compared with lisinopril.
|
29021226 |
2018 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
SMYD2 deficiency delayed renal cyst growth in postnatal kidneys from Pkd1 mutant mice.
|
28604386 |
2017 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Unique somatic mutations in PKD1 were also detected in 80% of the renal cysts analyzed, but not in the pRCC.
|
26718059 |
2016 |
Renal cyst
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Interaction of polycystin-1 (PC1) and Gα12 is important for development of kidney cysts in autosomal dominant polycystic kidney disease (ADPKD).
|
25492927 |
2015 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations of PKD1 cause autosomal dominant polycystic kidney disease (ADPKD), a syndrome characterized by kidney cysts and progressive renal failure.
|
19331813 |
2009 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with TSC often develop renal cysts and those with inherited co-deletions of the autosomal dominant polycystic kidney disease (ADPKD) 1 gene (PKD1) develop severe, early onset, polycystic kidneys.
|
19321600 |
2009 |
Renal cyst
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The PKD1 children had, in comparison with those with PKD2, significantly greater total of renal cysts (13.3 +/- 12.5 vs 3.0 +/- 2.1, P = 0.004), larger kidneys [right/left kidney length 0.89 +/- 1.22 standard deviation score (SDS) vs 0.17 +/- 1.03 SDS, P = 0.045, and 1.19 +/- 1.42 SDS vs 0.12 +/- 1.09 SDS, P = 0.014, successively] and higher ambulatory day-time and night-time systolic BP (day-time/night-time BP index 0.93 +/- 0.10 vs 0.86 +/- 0.05, P = 0.021 and 0.94 +/- 0.07 vs 0.89 +/- 0.04, P = 0.037, successively).
|
19194729 |
2009 |
Renal cyst
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The formation of renal cysts in ADPKD has been attributed to dysfunction of primary cilia and the primary cilia-related proteins polycystin-1 (in 85% of cases) and polycystin-2 in renal epithelial cells.
|
18263686 |
2008 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Genotype/phenotype analysis showed that all (21 of 21) patients with TSC2 deletions extending 3' into the PKD1 gene had kidney cysts.
|
17287951 |
2007 |
Renal cyst
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Daily administration of AG825 to PKD1 null heterozygous mice significantly inhibited the development of renal cysts.
|
16797938 |
2006 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The PKD1 and PKD2 genes are mutated in patients with autosomal dominant polycystic kidney disease (ADPKD), a systemic disease, with the formation of renal cysts as main clinical feature.
|
15770226 |
2005 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We have previously shown that in the case of PKD1, renal cyst development is likely to require somatic inactivation of the normal allele coupled to a germline PKD1 mutation.
|
9734362 |
1998 |
Renal cyst
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In 2 families in which ADPKD is not co-inherited with PKD1 markers, only 11% of members aged less than 30 years had kidney cysts.
|
1605247 |
1992 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
All subjects over the age of 30 years carrying a mutation at the PKD1 locus showed renal ultrasonographic cysts, but 40% of carriers of the PKD1 mutation younger than 30 years did not have renal cysts.
|
1583643 |
1992 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Forty of 48 members (83 percent) less than 30 years old who inherited the PKD1 mutation had renal cysts.
|
2215575 |
1990 |
Renal cyst
|
0.200 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|