×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
BEFREE
The major ADPKD gene, polycystic kidney disease 1 (PKD1 ), has recently been identified.
7633405 1995
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
8554072 1996
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
MGD
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.
9326937 1997
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
9259200 1997
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.
9211343 1997
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
9199561 1997
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
9921908 1998
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.
9521593 1998
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.
10987650 1999
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
10647901 1999
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
10577909 1999
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutational analysis within the 3' region of the PKD1 gene.
10200984 1999
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
MGD
Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes.
9988265 1999
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations in the duplicated region of PKD1 gene.
10854095 2000
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
CLINGEN
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
11012875 2000
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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