POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
|
15772804 |
2005 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo.
|
15579506 |
2004 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
|
15496422 |
2004 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
|
15496422 |
2004 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.
|
12514735 |
2003 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
|
12842373 |
2003 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A complete mutation screen of the ADPKD genes by DHPLC.
|
11967008 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
|
11773467 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
|
12007219 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation screening of the PKD1 transcript by RT-PCR.
|
12070253 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.
|
12007403 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
|
12220456 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
|
11857740 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One of the PKD1-linked families was indicated to have different mutations of PKD1 gene in the same family.
|
11829141 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene.
|
11593033 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.
|
11689485 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
|
11115377 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
|
11571556 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
|
11316854 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.
|
11558899 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
|
11691639 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the duplicated region of PKD1 gene.
|
10854095 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
|
11012875 |
2000 |