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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The promoter and the enhancer region of the KLK 3 (prostate specific antigen) gene is frequently mutated in breast tumours and in breast carcinoma cell lines.
PMID 10188912 · PMC2362704 · British journal of cancer · 1999 · 7 claims · 5 setups
No mutations were found in the protein-coding exons of the PSA gene in breast tumours or cell lines
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Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.
PMID 8609062 · PMC5921065 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 2 setups
Mutations of hMLH1 or hMSH2 play only a limited role in the development of sporadic endometrial carcinomas.
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alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
PMID 19684871 · PMC2726717 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 5 setups
SNTA1 is a new susceptibility gene for LQTS
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Mutational analysis of TARDBP in neurodegenerative diseases.
PMID 20031275 · PMC2889148 · Neurobiology of aging · 2011 · 8 claims · 4 setups
TARDBP mutations are not a significant cause of AD or PD
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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
PMID 16684822 · PMC1865080 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 3 setups
DAX1 mutations are a relatively frequent cause of adrenal failure in 46,XY phenotypic boys with adrenal hypoplasia
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Comprehensive genomic analysis reveals clinically relevant molecular distinctions between thymic carcinomas and thymomas.
PMID 19861435 · PMC2783876 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 7 claims · 7 setups
Comprehensive genomic analysis shows thymic carcinomas are molecularly distinct from thymomas
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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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Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.
PMID 18632602 · PMC2586155 · Cancer research · 2008 · 8 claims · 7 setups
A novel somatic MEK1 K57N mutation was identified in 2 of 207 primary lung adenocarcinomas
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WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.
PMID 8645586 · PMC2074480 · British journal of cancer · 1996 · 7 claims · 5 setups
No WAF1/CIP1 coding mutations were found in any of 36 ovarian carcinomas sequenced, including tumors with LOH on 6p and those lacking p53 mutations
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A phase II trial of gefitinib as first-line therapy for advanced non-small cell lung cancer with epidermal growth factor receptor mutations.
PMID 17047648 · PMC2360715 · British journal of cancer · 2006 · 7 claims · 5 setups
Gefitinib is highly active and well tolerated as first-line therapy for advanced NSCLC with EGFR mutations
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Somatic mutations in mitochondria: the chicken or the egg?
PMID 16207343 · PMC1257449 · Arthritis research & therapy · 2005 · 6 claims · 6 setups
Patients with RA have a higher incidence of somatic mtDNA mutations (in MT-ND1 transcripts) in synoviocytes and synovial tissue compared with OA patients
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High-resolution profiling of pathways of escape for SARS-CoV-2 spike-binding antibodies.
PMID 34010620 · PMC8096189 · Cell · 2021 · 7 claims · 3 setups
Phage-DMS comprehensively maps the effect of all possible single mutations across the SARS-CoV-2 spike protein on polyclonal plasma antibody binding, defining antibody escape pathways.
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Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.
PMID 8957064 · PMC5921002 · Japanese journal of cancer research : Gann · 1996 · 6 claims · 4 setups
Both components of combined hepatocellular-cholangiocellular carcinoma share the same genetic and phenotypic character and may arise from the same origin in some cases
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p16INK4 gene mutations are relatively frequent in ampullary carcinomas.
PMID 9414654 · PMC5921281 · Japanese journal of cancer research : Gann · 1997 · 8 claims · 2 setups
P16INK4 gene mutations are relatively frequent in sporadic ampullary carcinomas
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Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups
Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups
Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles
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Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.
PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups
Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database
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Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
PMID 19808356 · PMC2765062 · Circulation. Heart failure · 2009 · 8 claims · 4 setups
Myofilament protein levels (MYBPC3 and MYH7) are increased, not decreased, in HCM patients carrying a mutation in either gene compared to healthy heart tissue
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Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancers.
PMID 19671847 · PMC2892178 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 5 setups
Genomic profiling by aCGH can distinguish clonal tumors from independent primaries with high confidence by identifying matching versus non-matching regions of allelic gain/loss.