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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Conservation, variability and the modeling of active protein kinases.
PMID 17912359 · PMC1989141 · PloS one · 2007 · 7 claims · 5 setups
A novel sequence-order independent (fold-independent) structural alignment algorithm was developed that maximizes side-chain similarity to produce a consensus kinase structure.
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Mutation analysis of the AATF gene in breast cancer families.
PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups
No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk
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Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.
PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups
Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded
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Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.
PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups
Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations
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Endemic Venezuelan equine encephalitis in northern Peru.
PMID 15200823 · PMC3323213 · Emerging infectious diseases · 2004 · 8 claims · 8 setups
Four VEE complex lineages cocirculate in the Peruvian Amazon region: subtype ID (Panama genotype and Colombia/Venezuela genotype), subtype IIIC, and a newly proposed subtype IIID
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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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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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Somatic mutations of KIT in familial testicular germ cell tumours.
PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups
No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees
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Mutation analysis of the ATR gene in breast and ovarian cancer families.
PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups
ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene
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Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.
PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups
The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect
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Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.
PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups
BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history
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Mutational analysis of CDKN2 (CDK4I/MTS1) gene in tissues and cell lines of human prostate cancer.
PMID 7559077 · PMC5920883 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups
Mutation of the CDKN2 gene is rare in prostate cancer tissues, occurring in only 1 of 51 (2%) patients
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Analysis of the TGF beta functional pathway in epithelial ovarian carcinoma.
PMID 11531253 · PMC2364123 · British journal of cancer · 2001 · 6 claims · 6 setups
IGFIIR, TGFβ1 and TGFβRII are proposed to function as a unit in the TGFβ growth inhibitory pathway
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BRAF mutations in non-Hodgkin's lymphoma.
PMID 14612909 · PMC2394455 · British journal of cancer · 2003 · 7 claims · 4 setups
BRAF is somatically mutated in a subset of NHLs (4/164, 2.4%)
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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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Wiggle-predicting functionally flexible regions from primary sequence.
PMID 16839194 · PMC1500818 · PLoS computational biology · 2006 · 7 claims · 6 setups
A GNM-derived, correlation-weighted 'FF score' can objectively define functionally flexible regions (FFRs) that match experimentally confirmed flexible/functional regions (hinges, recognition loops, catalytic loops).
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Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups
No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.
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Sequence and structure signatures of cancer mutation hotspots in protein kinases.
PMID 19834613 · PMC2759519 · PloS one · 2009 · 8 claims · 6 setups
Developed CKMD (Composite Kinase Mutation Database), an integrated bioinformatics resource mapping genetic variation in protein kinase genes to sequence, structural, and functional data
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Discrimination of double primary lung cancer from intrapulmonary metastasis by p53 gene mutation.
PMID 10188905 · PMC2362717 · British journal of cancer · 1999 · 7 claims · 3 setups
p53 mutation patterns can be used as a clonal marker to discriminate double primary lung cancer from intrapulmonary metastasis in synchronous double lung tumours.
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Infrequent mutation of the H-cadherin gene on chromosome 16q24 in human breast cancers.
PMID 9330599 · PMC5921496 · Japanese journal of cancer research : Gann · 1997 · 4 claims · 2 setups
Mutation of the H-cadherin gene is very infrequent in primary breast cancers with 16q loss