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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Has reproduction · 98
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.
PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups
Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)
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Current and future directions in genomics of amyotrophic lateral sclerosis.
PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups
Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations
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A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.
PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups
The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
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Considerations regarding the genetics of obesity.
PMID 19037210 · PMC2682366 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Genetic factors account for 40-70% of the variance in human adiposity
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The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups
A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu
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Oncogenic mutations in GNAQ occur early in uveal melanoma.
PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups
Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM
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Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.
PMID 16989739 · PMC3933161 · Journal of cellular and molecular medicine · 2006 · 6 claims · 8 setups
Mutations in APP, PS1 and PS2 genes and polymorphisms in the APOE gene are implicated in AD pathogenesis
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Raf-1 activation disrupts its binding to keratins during cell stress.
PMID 15314064 · PMC2172217 · The Journal of cell biology · 2004 · 8 claims · 8 setups
Raf-1 kinase associates directly with keratin K8 (not K18), independent of Raf kinase activity and independent of Ras-Raf interaction
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HIV-1 Nef binds the DOCK2-ELMO1 complex to activate rac and inhibit lymphocyte chemotaxis.
PMID 14737186 · PMC314466 · PLoS biology · 2004 · 8 claims · 8 setups
HIV-1 Nef binds the DOCK2-ELMO1 complex (which also contains Rac) in T cells
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A restricted spectrum of NRAS mutations causes Noonan syndrome.
PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups
Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation
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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups
PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer
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Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups
BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant
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COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.
PMID 19906727 · PMC2808858 · Nucleic acids research · 2010 · 8 claims · 6 setups
COSMIC is the largest public resource for information on somatically acquired mutations in human cancer, freely available without restriction