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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mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.
PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups
The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid
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Evaluation of EGR1 as a candidate gene for high myopia.
PMID 18636116 · PMC2464612 · Molecular vision · 2008 · 6 claims · 1 setups
EGR1/ZENK is upregulated to inhibit axial eye growth (STOP signal) and downregulated during axial elongation in animal models of experimentally induced myopia
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A novel mutation in the SH3BP2 gene causes cherubism: case report.
PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups
A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.
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A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9.
PMID 16385662 · PMC2810600 · Yonsei medical journal · 2005 · 7 claims · 2 setups
A patient heterozygous for CYP2C9*3 (genotype CYP2C9*1/*3) developed an extremely elevated INR on standard warfarin dosing, indicating impaired warfarin metabolism.
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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Low density DNA microarray for detection of most frequent TP53 missense point mutations.
PMID 15713227 · PMC553977 · BMC biotechnology · 2005 · 7 claims · 6 setups
A double tandem hybridization microarray with 7-nt gap targets and 7-mer capture probes can search for 9 point mutations in TP53 codons 248, 249, and 273
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FLAME, a novel fuzzy clustering method for the analysis of DNA microarray data.
PMID 17204155 · PMC1774579 · BMC bioinformatics · 2007 · 6 claims · 5 setups
FLAME captures non-linear relationships and non-globular clusters by approximating fuzzy membership from each object's nearest neighbors rather than global centroids
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Pathogenic mitochondrial DNA mutations are common in the general population.
PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups
At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers
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The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.
PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups
No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.
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Enforced MYC expression directs a distinct transcriptional state during plasma cell differentiation.
PMID 40721291 · PMC12305944 · Life science alliance · 2025 · 8 claims · 7 setups
Acute MYC (T58I) and BCL2 overexpression drives an aberrant B-cell differentiation phenotype with altered surface marker expression while functional antibody secretion is retained
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Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.
PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups
Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC
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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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Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI).
PMID 16141191 · PMC1197137 · Nucleic acids research · 2005 · 8 claims · 6 setups
A novel 'bioluminometric assay coupled with terminator (ddNTP) incorporation' (BATI) platform was developed for multiplex SNP typing in a single reaction chamber.
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Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.
PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups
All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).
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Proteomics of the human malaria parasite Plasmodium falciparum.
PMID 16445353 · PMC2721975 · Expert review of proteomics · 2006 · 8 claims · 8 setups
Completion of the P. falciparum genome sequence together with advances in mass spectrometry has enabled large-scale proteomic analysis of the parasite that was previously limited by inability to identify proteins from 2D gels
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family