×
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
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
CLINVAR
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
26139440
2016
×
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
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
×
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
MGD
Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures.
17928412
2008
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
22508176
2012
×
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
GeneticVariation
disease
UNIPROT
A complete mutation screen of the ADPKD genes by DHPLC.
11967008
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
MGD
Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene.
11593033
2001
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
12482949
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
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
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
CLINGEN
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
23064367
2012
×
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
Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
11773467
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
MGD
Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.
11689485
2001
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
23624871
2013
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
12007219
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
20558538
2010
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
15772804
2005
×
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
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1 ) gene in PKD1 -linked Australian families.
11857740
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
1.000
GeneticVariation
disease
UNIPROT
Mutation screening of the PKD1 transcript by RT-PCR.
12070253
2002