×
Entrez Id:
5311
Gene Symbol:
PKD2
PKD2
0.300
Biomarker
disease
BEFREE
No signs of imprinting were found in this study, and the only gender effect was an earlier age of onset of ESRD in men than in women (49.5 versus 53.1 yr in PKD1 , P < 0.01 and 70.57 versus 73.6 yr in PKD2 , P = 0.1).
8915974
1996
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
0.020
Biomarker
disease
BEFREE
We have initiated studies to identify transcribed sequences in this region using a bacteriophage P1 contig containing 700 kb of DNA surrounding the PKD1 and TSC2 genes.
8828041
1996
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
0.020
Biomarker
disease
BEFREE
PKD1 mutations are contrasted with those in the PKD1 /TSC2 contiguous-gene syndrome, and the likely mutational mechanism in PKD1 is considered.
8554072
1996
×
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:
5311
Gene Symbol:
PKD2
PKD2
0.300
Biomarker
disease
BEFREE
Our clinical analysis, yet based only on a limited number of PKD2 subjects, does not definitely support the concept of a milder phenotype and prognosis in PKD2 versus PKD1 patients, in terms of mean age of diagnosis (29 vs. 29 years), mean age at onset of arterial hypertension (33 vs. 33 years), more favourable renal function or ultrasound findings.
9595261
1997
×
Entrez Id:
1636
Gene Symbol:
ACE
ACE
0.010
GeneticVariation
disease
BEFREE
This study strongly suggests that PKD 1 patients homozygous for the deletion allele of the ACE gene are at increased risk of developing ESRF at a early age.
9291178
1997
×
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
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
Novel mutations in the duplicated region of PKD1 gene.
10854095
2000
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
CLINGEN
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
11012875
2000
×
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