|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 (<i>PKD1</i>) and <i>PKD2</i>, respectively, are the cause of autosomal dominant PKD (ADPKD).
|
31160911 |
2019 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2).
|
29475398 |
2018 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, potentially lethal, monogenic diseases and is caused predominantly by mutations in polycystic kidney disease 1 (PKD1) and PKD2, which encode polycystin 1 (PC1) and PC2, respectively.
|
30120380 |
2018 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV.
|
26932689 |
2016 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family).
|
26139440 |
2016 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is a signalopathy of renal tubular epithelial cells caused by naturally occurring mutations in two distinct genes, polycystic kidney disease 1 (PKD1) and 2 (PKD2).
|
27199453 |
2016 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent.
|
23165645 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a follow-up study of a unique multigeneration family with bilineal ADPKD (NFL10) in which a PKD1 disease haplotype and a PKD2 (L736X) mutation co-segregated with 18 and 14 affected individuals, respectively.
|
22031115 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
Pharmacological inhibition of HDAC activity has been found to reduce the progression of cyst formation and slow the decline of kidney function in Pkd1 conditional knockout mice and Pkd2 knockout mice, respectively, implicating the potential clinical application of HDAC inhibitors on ADPKD.
|
20970496 |
2011 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened the entire coding region of the PKD1 and PKD2 genes in 17 Finnish families with ADPKD via long-range polymerase chain reaction, single-strand conformation polymorphism analysis, and direct sequencing.
|
15772804 |
2005 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
Since identification of the genes mutated in patients with Autosomal Dominant Polycystic Kidney Disease, PKD1 and PKD2, a large number of different germ line mutations in both genes have been found by conventional PCR-based mutation detection methods.
|
14695542 |
2004 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
Patients with PKD2, as well as those with PKD1, are at risk of intracranial aneurysm.
|
12842373 |
2003 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Six polymorphic markers, each linked to either the polycystic kidney disease 1 (PKD1) or polycystic kidney disease 2 (PKD2) gene, were used for polymerase chain reaction analysis.
|
11829141 |
2002 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
Our clinical analysis, yet based only on a limited number of PKD2 subjects, does not definitely support the concept of a milder phenotype and prognosis in PKD2 versus PKD1 patients, in terms of mean age of diagnosis (29 vs. 29 years), mean age at onset of arterial hypertension (33 vs. 33 years), more favourable renal function or ultrasound findings.
|
9595261 |
1997 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
No signs of imprinting were found in this study, and the only gender effect was an earlier age of onset of ESRD in men than in women (49.5 versus 53.1 yr in PKD1, P < 0.01 and 70.57 versus 73.6 yr in PKD2, P = 0.1).
|
8915974 |
1996 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
0.300 |
Biomarker
|
disease |
MGD |
|
|
|