|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
MGD |
A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1.
|
18385665 |
2008 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2).
|
29475398 |
2018 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
|
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 |
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 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
|
23624871 |
2013 |
|
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 |
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 |
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 |
CLINVAR |
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
|
26139440 |
2016 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.
|
10987650 |
1999 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
|
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |