POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The major ADPKD gene, polycystic kidney disease 1 (PKD1), has recently been identified.
|
7633405 |
1995 |
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 |
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 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings suggest that the first step toward cyst formation in PKD1 patients is the loss of one functional copy of polycystin 1, which indirectly supports the "two-hit" model of cystogenesis where a second somatic mutation inactivating the normal allele is necessary to occur for development of the disease condition.
|
10923038 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA.
|
10612835 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene.
|
8004675 |
1994 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
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
|
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 |
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
|
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 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium).
|
7633406 |
1995 |
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 |
Biomarker
|
disease |
BEFREE |
The markers we mapped are widely distributed over the region known to contain the PKD1 gene, and it is therefore likely that the mouse homologue of PKD1 is also located on mouse chromosome 17.
|
1349580 |
1992 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Human conditionally immortalized Proximal Tubular Epithelial cells (ciPTEC) with stable knockdown of PKD1 (ciPTEC-PC1KD) and ciPTEC generated from an ADPKD1 patient (ciPTEC-PC1Pt) were used as experimental tools.
|
29632324 |
2018 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
|
11857740 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One of the PKD1-linked families was indicated to have different mutations of PKD1 gene in the same family.
|
11829141 |
2002 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
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 |
MGD |
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.
|
9326937 |
1997 |
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 |
MGD |
Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene.
|
11593033 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.
|
11689485 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.
|
12514735 |
2003 |