×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
11012875
2000
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
11058904
2000
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
11216660
2000
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
10923040
2000
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
10729710
2000
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
UNIPROT
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
10647901
1999
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Mutational analysis within the 3' region of the PKD1 gene.
10200984
1999
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
MGD
Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes.
9988265
1999
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
UNIPROT
Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.
9521593
1998
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
MGD
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.
9326937
1997
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
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
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
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
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
BEFREE
The major ADPKD gene, polycystic kidney disease 1 (PKD1 ), has recently been identified.
7633405
1995
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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