|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo.
|
15579506 |
2004 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
|
15496422 |
2004 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
|
15496422 |
2004 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
|
15772804 |
2005 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Multivariable logistic regression analysis with adjustment for conventional risk factors revealed that the -572G-->C polymorphism of the interleukin-6 (IL-6) gene (IL6) was significantly (P<0.001) associated with both atherothrombotic cerebral infarction and intracerebral hemorrhage and that the -55C-->T polymorphism of the uncoupling protein 3 gene (UCP3), the -863C-->A polymorphism of the tumor necrosis factor (TNF) gene (TNF), and the G-->A (Gly243Asp) polymorphism of the polycystic kidney disease 1-like gene (PKD1-like) were significantly associated with subarachnoid hemorrhage.
|
16741147 |
2006 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures.
|
17928412 |
2008 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
|
18640754 |
2008 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1.
|
18385665 |
2008 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
|
18837007 |
2009 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
|
19165178 |
2009 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
|
20558538 |
2010 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The cloning and characterization of pig PKD1 indicates that the pig and human genes are highly similar in length of genomic and cDNA sequences, genomic structure and context, expression patterns, conserved transcription factor binding sites, and the molecular mass of the encoded polycystin-1.
|
21945688 |
2011 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
|
22034641 |
2011 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
|
21115670 |
2011 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
G-protein signaling modulator 1 deficiency accelerates cystic disease in an orthologous mouse model of autosomal dominant polycystic kidney disease.
|
23236168 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
|
23624871 |
2013 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Unopposed cAMP stimulated hyperphosphorylation of PC2 in the absence of functional PC1 could contribute to cyst initiation in PKD1 patients and represents a new molecular paradigm in understanding ADPKD pathogenesis.
|
23390129 |
2013 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
|
26139440 |
2016 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Among the patients included, 221 (50.9%) had truncating PKD1 (PKD1-T), 141 (32.5%) nontruncating PKD1 (PKD1-NT) and 72 (16.6%) PKD2 mutations.
|
26932689 |
2016 |