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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Interpretation of genomic data: questions and answers.
PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups
The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.
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Characterization of the human DYRK1A promoter and its regulation by the transcription factor E2F1.
PMID 18366763 · PMC2292204 · BMC molecular biology · 2008 · 8 claims · 8 setups
Transcription start sites of human DYRK1A are distributed over an 800 bp region within an unmethylated CpG island
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Computational analysis of splicing errors and mutations in human transcripts.
PMID 18194514 · PMC2234086 · BMC genomics · 2008 · 8 claims · 4 setups
Retained introns are significantly shorter than constitutively spliced introns
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.
PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups
BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay
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Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups
SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.
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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
PMID 19775295 · PMC2783282 · British journal of haematology · 2009 · 8 claims · 4 setups
ELANE mutations were detected in 90 of 162 SCN patients (55.6%), making it the most commonly mutated gene in SCN.
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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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Expression and mutational analysis of c-kit in ovarian surface epithelial tumors.
PMID 16479070 · PMC2733984 · Journal of Korean medical science · 2006 · 8 claims · 3 setups
KIT protein expression by immunohistochemistry is more frequent in mucinous ovarian tumors (borderline and malignant) than in serous tumors
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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups
The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder
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Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.
PMID 18298804 · PMC2266761 · BMC cancer · 2008 · 8 claims · 3 setups
HRM correctly detects and distinguishes the three Ashkenazi Jewish BRCA1/BRCA2 founder mutations (185delAG, 5382insC, 6174delT) from wild type
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Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.
PMID 19744331 · PMC2749040 · BMC structural biology · 2009 · 8 claims · 1 setups
The simulation-derived JH1/JH2 interface provides a platform that explains the mutational effect of all tested mutants, including presumably benign controls, at the atomic level
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Has reproduction · 96
A Meta-Analysis of the Effects of Acute Sleep Deprivation on the Cortical Transcriptome in Rodent Models.
PMID 41031900 · PMC13131251 · Journal of sleep research · 2026 · 8 claims · 8 setups
Meta-analysis of 18 SD-vs-control contrasts across 8 rodent studies (collective n=293) identified 182 differentially expressed genes (DEGs) in cerebral cortex following SD (FDR<0.05)
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Cohesin regulates alternative splicing.
PMID 36857449 · PMC9977177 · Science advances · 2023 · 7 claims · 8 setups
Cohesin regulates alternative splicing independently of its effects on transcription.
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Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.
PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups
No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing
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The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system.
PMID 9579832 · PMC2150152 · British journal of cancer · 1998 · 5 claims · 6 setups
ARMS reliably detects K-ras codon 12/13 mutations in archival CRC DNA samples even when mutant sequence is under-represented relative to wild-type
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Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan.
PMID 10362120 · PMC2363055 · British journal of cancer · 1999 · 7 claims · 4 setups
p53 gene mutation rate is high in arsenic-related skin cancers (39% Bowen's disease, 28.6% BCC, 55.6% SCC)
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Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.
PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups
The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer
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Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups
Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients
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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.