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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BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
PMID 18497862 · PMC2375115 · PLoS genetics · 2008 · 8 claims · 6 setups
BRCA1 and BRCA2 pathogenic mutation carriers have similar post-irradiation LCL gene expression profiles to each other, more so than to BRCAX samples without an LCS variant
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Getting knit-PI3Ky: PIK3CA mutation status to direct multimodality therapy?
PMID 19903790 · PMC3400141 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 1 setups
PIK3CA mutations are associated with local disease recurrence in rectal cancer patients
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Has reproduction · 79
Species-Wide Phylogenomics of the Staphylococcus aureus Agr Operon Revealed Convergent Evolution of Frameshift Mutations.
PMID 35044202 · PMC8768832 · Microbiology spectrum · 2022 · 8 claims · 7 setups
AgrVATE, a novel kmer-based BLASTn and in silico PCR/Snippy pipeline, enables fast, standardized agr group typing and frameshift/null mutation detection from genome assemblies
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LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.
PMID 18752982 · PMC2761091 · Parkinsonism & related disorders · 2009 · 8 claims · 4 setups
LRRK2 G2019S mutation frequency was 1.56% in total PD, higher in familial PD (3.5%) than sporadic PD (0.3%)
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Molecular evolution and multilocus sequence typing of 145 strains of SARS-CoV.
PMID 16112670 · PMC7118731 · FEBS letters · 2005 · 8 claims · 7 setups
145 SARS-CoV genomes can be divided into three groups: animal-origin viruses, first-epidemic clinical viruses, and GD03T0013
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Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.
PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups
CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families
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BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas.
PMID 17453004 · PMC2359941 · British journal of cancer · 2007 · 8 claims · 4 setups
BRAF V600E mutation was found in 4 of 20 (20%) anaplastic thyroid carcinomas overall
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Mathematical models in mammalian cell biology.
PMID 18638360 · PMC2530880 · Genome biology · 2008 · 8 claims · 8 setups
A point mutation in the circadian Per2 gene causes familial advanced sleep phase syndrome (FASPS) via a phosphorylation defect that alters PER2 stability and subcellular localization.
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Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups
BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK
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Natural variation of HIV-1 group M integrase: implications for a new class of antiretroviral inhibitors.
PMID 18687142 · PMC2546438 · Retrovirology · 2008 · 7 claims · 6 setups
Integrase displays significantly less inter- and intra-subtype amino acid diversity and lower Shannon's entropy than protease or RT.
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Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.
PMID 19888326 · PMC2765618 · PloS one · 2009 · 7 claims · 4 setups
The frequency of SAA1 alpha/alpha homozygotes is much higher among Armenian FMF patients (24%) than Karabakhian FMF patients (4%)
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Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.
PMID 7577473 · PMC2033923 · British journal of cancer · 1995 · 8 claims · 5 setups
No somatic mutations of WAF1/CIP1 were found in 158 primary human brain tumours
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The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups
The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers
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Molecular variants of the ATM gene in Hodgkin's disease in children.
PMID 14735203 · PMC2409549 · British journal of cancer · 2004 · 8 claims · 4 setups
Missense variants of the ATM gene occur in childhood Hodgkin lymphoma but at low frequency (9%), and thus do not play a major role in oncogenesis of the disease
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Has reproduction · 32
Developing prognostic gene panel of survival time in lung adenocarcinoma patients using machine learning.
PMID 35117753 · PMC8799101 · Translational cancer research · 2020 · 7 claims · 4 setups
A panel of 22 genetic features with Naïve Bayes can predict whether lung adenocarcinoma patient survival time is >3 years (accuracy=75%, AUC=0.81).
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Has reproduction · 73
Comprehensive analysis of mitophagy in HPV-related head and neck squamous cell carcinoma.
PMID 37161060 · PMC10170109 · Scientific reports · 2023 · 8 claims · 8 setups
In HPV-associated HNSCC, the mitophagy process affects tumour development, immune cell infiltration and prognosis.
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Has reproduction · 71
Comprehensive analysis of a novel RNA modifications-related model in the prognostic characterization, immune landscape and drug therapy of bladder cancer.
PMID 37124622 · PMC10131083 · Frontiers in genetics · 2023 · 7 claims · 8 setups
Two distinct RNA modification patterns exist among BCa samples with radically different clinical outcomes and biological characteristics.
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Evolutionary origins of human apoptosis and genome-stability gene networks.
PMID 18832373 · PMC2577361 · Nucleic acids research · 2008 · 8 claims · 8 setups
The entanglement of DNA repair, chromosome stability and apoptosis gene networks appears with the caspase gene family and the antiapoptotic gene BCL2.
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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In silico discovery of transcription regulatory elements in Plasmodium falciparum.
PMID 18257930 · PMC2268928 · BMC genomics · 2008 · 7 claims · 8 setups
GEMS, using hypergeometric scoring and PWM parameter optimization, reliably identifies high-confidence cis-regulatory elements in the AT-rich, repeat-rich P. falciparum genome