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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An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
PMID 18636123 · PMC2467519 · Molecular vision · 2008 · 6 claims · 2 setups
A heterozygous c.1915G>A mutation in exon 14 of TGFBI (p.G623D) causes an atypical form of RBCD in this Chinese family, distinct from previously reported phenotypes for the same mutation.
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Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.
PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups
The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women
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Indi-gene-ous conflict.
PMID 11401778 · PMC1240322 · Environmental health perspectives · 2001 · 8 claims · 2 setups
Richard Ward collected blood samples from Nuu-chah-nulth Indians for an arthritis genetics study, then used them without consent for unrelated genetic anthropology research identifying them as a distinct population.
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Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease.
PMID 16951489 · PMC1592598 · Mediators of inflammation · 2006 · 6 claims · 2 setups
No deletion, insertion, or point mutations were found in the pyrin domain of the MEFV gene in any of the 54 Turkish BD patients analyzed.
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Proximal 6q, a region showing allele loss in primary breast cancer.
PMID 7841042 · PMC2033574 · British journal of cancer · 1995 · 8 claims · 1 setups
A proximal region of 6q (6q13 to 6q16.3-q21) shows a markedly elevated frequency of allelic imbalance (mean 35.3%) across seven microsatellite markers, higher than background AI levels.
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Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.
PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups
The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016
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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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Has reproduction · 92
Draft Genome Sequences of Antimicrobial-Resistant Shigella Clinical Isolates from Pakistan.
PMID 31346012 · PMC6658682 · Microbiology resource announcements · 2019 · 6 claims · 7 setups
Draft genome sequences of three multidrug-resistant Shigella clinical isolates from Pakistan (two S. flexneri, one S. sonnei) are reported as a resource for AMR surveillance.
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Has reproduction · 83
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.
PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 7 setups
A multigene expression biomarker from PBMCs accurately classifies familial breast cancer (FBC) status
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Has reproduction · 88
Human methylome variation across Infinium 450K data on the Gene Expression Omnibus.
PMID 33937763 · PMC8061458 · NAR genomics and bioinformatics · 2021 · 8 claims · 8 setups
Among annotated HM450K GEO samples, about two-thirds were from blood, one-quarter from brain, and about one-third were from cancer patients.
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Has reproduction · 71
Utilizing the codon adaptation index to evaluate the susceptibility to HIV-1 and SARS-CoV-2 related coronaviruses in possible target cells in humans.
PMID 36760235 · PMC9905242 · Frontiers in cellular and infection microbiology · 2022 · 8 claims · 8 setups
CAI is positively correlated with translational efficiency, validating its use as a proxy for translational efficiency at the elongation level.
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Has reproduction · 67
An individualized causal framework for learning intercellular communication networks that define microenvironments of individual tumors.
PMID 36548438 · PMC9822106 · PLoS computational biology · 2022 · 8 claims · 6 setups
An individualized Bayesian causal discovery framework can learn tumor-specific intercellular communication networks (ICNs) by combining single-cell gene expression module (GEM) discovery, bulk tumor deconvolution, and individualized causal network learning.
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Has reproduction · 50
Vascular adhesion protein-1 defines a unique subpopulation of human hematopoietic stem cells and regulates their proliferation.
PMID 34719737 · PMC8629906 · Cellular and molecular life sciences : CMLS · 2021 · 7 claims · 8 setups
VAP-1 is expressed on a subset of human HSC and on bone marrow vasculature forming a hematogenic niche
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Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.
PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups
LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested
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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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Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.
PMID 11207042 · PMC2363770 · British journal of cancer · 2001 · 8 claims · 4 setups
FAMA using large bifluorescent amplicons (avg 1.2 kb) with chemical cleavage of mismatch, combined with DGGE for 9 small exons, allows sensitive, unbiased scanning of the entire BRCA2 coding sequence with few amplicons (15 FAMA + 9 DGGE)
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INI1 mutations in meningiomas at a potential hotspot in exon 9.
PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups
A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.
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No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.
PMID 11961312 · PMC3054847 · Journal of Korean medical science · 2002 · 5 claims · 4 setups
FXIII Val34Leu polymorphism is absent or rare in both PICH patients and healthy controls among Koreans
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Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.