×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
BEFREE
ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1 ) or polycystic kidney disease 2 ( PKD2).
29475398 2018
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
BEFREE
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, potentially lethal, monogenic diseases and is caused predominantly by mutations in polycystic kidney disease 1 (PKD1) and PKD2, which encode polycystin 1 (PC1 ) and PC2, respectively.
30120380 2018
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
BEFREE
Human conditionally immortalized Proximal Tubular Epithelial cells (ciPTEC) with stable knockdown of PKD1 (ciPTEC-PC1KD ) and ciPTEC generated from an ADPKD1 patient (ciPTEC-PC1Pt) were used as experimental tools.
29632324 2018
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
CLINVAR
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
26139440 2016
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784 2016
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
23624871 2013
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
BEFREE
Unopposed cAMP stimulated hyperphosphorylation of PC2 in the absence of functional PC1 could contribute to cyst initiation in PKD1 patients and represents a new molecular paradigm in understanding ADPKD pathogenesis.
23390129 2013
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
CLINGEN
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
23064367 2012
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
CLINGEN
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
MGD
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
23064367 2012
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
MGD
G-protein signaling modulator 1 deficiency accelerates cystic disease in an orthologous mouse model of autosomal dominant polycystic kidney disease.
23236168 2012
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
CLINVAR
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
23064367 2012
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
AlteredExpression
BEFREE
The cloning and characterization of pig PKD1 indicates that the pig and human genes are highly similar in length of genomic and cDNA sequences, genomic structure and context, expression patterns, conserved transcription factor binding sites, and the molecular mass of the encoded polycystin-1 .
21945688 2011
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
22034641 2011
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
21115670 2011
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
20558538 2010
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
18837007 2009
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
CLINVAR
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
19165178 2009
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
CLINGEN
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
18640754 2008
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
MGD
A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1.
18385665 2008
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
BEFREE
Multivariable logistic regression analysis with adjustment for conventional risk factors revealed that the -572G-->C polymorphism of the interleukin-6 (IL-6) gene (IL6) was significantly (P<0.001) associated with both atherothrombotic cerebral infarction and intracerebral hemorrhage and that the -55C-->T polymorphism of the uncoupling protein 3 gene (UCP3), the -863C-->A polymorphism of the tumor necrosis factor (TNF) gene (TNF), and the G-->A (Gly243Asp ) polymorphism of the polycystic kidney disease 1 -like gene (PKD1 -like) were significantly associated with subarachnoid hemorrhage.
16741147 2006