Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups
MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments
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Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.
PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups
No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.
PMID 7852189 · PMC5919385 · Japanese journal of cancer research : Gann · 1994 · 7 claims · 4 setups
p53 gene mutations occur more frequently in serous adenocarcinomas than in other common epithelial ovarian tumors combined
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Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.
PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups
BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls
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p53 mutations occur in clinical, but not latent, human prostate carcinoma.
PMID 7737911 · PMC5920585 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups
p53 point mutations occur in clinical prostate cancer but not in latent (subclinical) prostate carcinoma
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Mutation of the p53 gene precedes aneuploid clonal divergence in colorectal carcinoma.
PMID 7841032 · PMC2033599 · British journal of cancer · 1995 · 7 claims · 5 setups
p53 mutation occurs as a single clonal event that precedes and may facilitate aneuploid clonal divergence in colorectal carcinoma
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BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.
PMID 9155062 · PMC2228233 · British journal of cancer · 1997 · 6 claims · 4 setups
A restriction site-generating PCR (RG-PCR) assay was developed to detect the BRCA1 5382insC mutation.
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MDM2 overexpression with alteration of the p53 protein and gene status in oral carcinogenesis.
PMID 10835493 · PMC5926374 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups
MDM2 and p53 protein expression significantly increase in accordance with histological progression from normal mucosa to dysplasia to SCC.
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Low frequency of E-cadherin alterations in familial breast cancer.
PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups
No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus
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Genetic and epigenetic analyses of MBD3 in colon and lung cancer.
PMID 15138480 · PMC2410281 · British journal of cancer · 2004 · 7 claims · 5 setups
MBD3 is not a major target of genetic or epigenetic alteration in colon and lung cancer
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Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.
PMID 9099956 · PMC2222800 · British journal of cancer · 1997 · 8 claims · 7 setups
No sequence mutations were found in the MTHFR gene in ovarian tumors and cell lines despite extensive SSCP screening
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Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.
PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups
The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Crystallin gene mutations in Indian families with inherited pediatric cataract.
PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups
Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.
PMID 9514057 · PMC2149958 · British journal of cancer · 1998 · 8 claims · 6 setups
p53 mutations were found in 8 of 12 HCCs with cirrhosis due to viral hepatitis and in both patients with sarcomatoid change
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Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.
PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups
Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened