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).
-
Full-text index only
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups
POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)
-
Full-text index only
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
-
Full-text index only
Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.
PMID 11953843 · PMC2364178 · British journal of cancer · 2002 · 7 claims · 5 setups
Heterozygosity for the IVS14+1G>A DPYD splice-site mutation is associated with markedly reduced 5-FU clearance and severe 5-FU toxicity in the index patient.
-
Full-text index only
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.
-
Full-text index only
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups
HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH
-
Full-text index only
TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.
PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups
CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue
-
Full-text index only
An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.
PMID 18676830 · PMC2680495 · Cancer research · 2008 · 8 claims · 5 setups
PIK3CA mutations are more common in hormone receptor-positive and HER2-positive tumors than in basal-like breast cancers
-
Full-text index only
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups
A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T
-
Full-text index only
Direct maximum parsimony phylogeny reconstruction from genotype data.
PMID 18053244 · PMC2222657 · BMC bioinformatics · 2007 · 6 claims · 4 setups
The paper presents the first practical method for computing maximum parsimony phylogenies directly from genotype data, using integer linear programming.
-
Full-text index only
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.
-
Has reproduction · 78
4-Methylcytosine DNA modification is critical for global epigenetic regulation and virulence in the human pathogen Leptospira interrogans.
PMID 33301041 · PMC7708080 · Nucleic acids research · 2020 · 7 claims · 8 setups
A 4mC orphan MTase (lomA) is present only in the pathogenic (P) clade of Leptospira and methylates CTAG motifs.
-
Full-text index only
Glycomic approach for potential biomarkers on prostate cancer: profiling of N-linked glycans in human sera and pRNS cell lines.
PMID 19126968 · PMC3827814 · Disease markers · 2008 · 8 claims · 5 setups
Glycomic profiling of N-linked glycans in serum can reveal potential biomarkers distinguishing prostate cancer patients from controls
-
Full-text index only
Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.
PMID 19096718 · PMC2603445 · Molecular vision · 2008 · 7 claims · 5 setups
CYP1B1 mutations are implicated in POAG among Iranians, notably in the juvenile-onset form
-
Full-text index only
Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas.
PMID 18790768 · PMC2651569 · Molecular cancer therapeutics · 2008 · 8 claims · 6 setups
CDK4 mutations (K22Q, R24C, R24L) alone do not confer resistance to the BRAF inhibitor SB590885
-
Has reproduction · 63
Extensive tissue-specific expression variation and novel regulators underlying circadian behavior.
PMID 33514540 · PMC7846174 · Science advances · 2021 · 8 claims · 8 setups
More than 1700 mostly tissue-specific cycling genes are detected across four Drosophila tissues, substantially expanding the catalog of clock-controlled genes
-
Full-text index only
Triplex targeted genomic crosslinks enter separable deletion and base substitution pathways.
PMID 16186129 · PMC1236719 · Nucleic acids research · 2005 · 8 claims · 4 setups
Targeted pso-TFO genomic crosslinks resolve via genetically separable pathways leading to either base substitutions or deletions.
-
Full-text index only
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups
CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations
-
Full-text index only
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
-
Full-text index only
Personalized medicine: the future is not what it used to be.
PMID 19958922 · PMC2844719 · Surgery · 2009 · 8 claims · 8 setups
Many rare tumors harbor a genomic Achilles heel that can be exploited for targeted therapy