POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.
|
9326937 |
1997 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The major ADPKD gene, polycystic kidney disease 1 (PKD1), has recently been identified.
|
7633405 |
1995 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the duplicated region of PKD1 gene.
|
10854095 |
2000 |
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 |
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
|
11012875 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
MGD |
Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures.
|
17928412 |
2008 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
|
9259200 |
1997 |
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 |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |
POLYCYSTIC KIDNEY DISEASE 1
|
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
|
23624871 |
2013 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
|
20558538 |
2010 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
|
11012875 |
2000 |
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 |