POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
The major ADPKD gene, polycystic kidney disease 1 (PKD1), has recently been identified.
|
7633405 |
1995 |
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 |
CLINGEN |
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 |
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 |
UNIPROT |
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
|
8554072 |
1996 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.
|
8792818 |
1996 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
|
9199561 |
1997 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.
|
9211343 |
1997 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
|
9259200 |
1997 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
|
9285784 |
1997 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.
|
9521593 |
1998 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
|
9921908 |
1998 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes.
|
9988265 |
1999 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis within the 3' region of the PKD1 gene.
|
10200984 |
1999 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
|
10364515 |
1999 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
|
10577909 |
1999 |
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 |
UNIPROT |
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
|
10647901 |
1999 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
|
10729710 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the duplicated region of PKD1 gene.
|
10854095 |
2000 |
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 |