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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CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.
PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups
TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy
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JAK2 V617F: a single mutation in the myeloproliferative group of disorders.
PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups
A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis
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Epidermal growth factor receptor structural alterations in gastric cancer.
PMID 18199332 · PMC2244615 · BMC cancer · 2008 · 8 claims · 4 setups
EGFR structural alterations are rare in gastric carcinoma
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Gefitinib for non-small-cell lung cancer patients with epidermal growth factor receptor gene mutations screened by peptide nucleic acid-locked nucleic acid PCR clamp.
PMID 17106442 · PMC2360739 · British journal of cancer · 2006 · 5 claims · 4 setups
NSCLC patients with EGFR mutations detected by PNA-LNA PCR clamp show significantly higher response rates and longer survival with gefitinib than EGFR wild-type patients.
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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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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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Mutation analysis of the MDM4 gene in German breast cancer patients.
PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups
Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Isolated eyelid closure myotonia in two families with sodium channel myotonia.
PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups
The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype
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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups
A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI