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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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups
Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.
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Genetic and biochemical studies in Argentinean patients with variegate porphyria.
PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups
All 18 studied VP patients harbored PPOX gene mutations in heterozygous state
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New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.
PMID 16340004 · PMC1310899 · Nucleic acids research · 2005 · 7 claims · 8 setups
Long pure palindromes (>~200 bp) cannot be stably cloned in E.coli due to cruciform-driven instability, and no E.coli mutant fully overcomes this cloning block.
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Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.
PMID 15841082 · PMC2361763 · British journal of cancer · 2005 · 8 claims · 5 setups
Somatic missense GRIM-19 mutations occur in a subset of sporadic Hürthle cell carcinomas but not in non-Hürthle cell thyroid carcinomas or blood donors
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Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.
PMID 15083190 · PMC2410274 · British journal of cancer · 2004 · 8 claims · 2 setups
Somatic k-ras mutations occur in 9 of 54 (16.7%) MYH polyposis colorectal tumours, with frequency increasing with degree of dysplasia.
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Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.
PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups
Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.
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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups
dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation
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Searching for genes underlying behavior: lessons from circadian rhythms.
PMID 18988844 · PMC3744585 · Science (New York, N.Y.) · 2008 · 8 claims · 5 setups
Forward genetic mutagenesis screens successfully identified the molecular components of the circadian clock across Drosophila, Neurospora, cyanobacteria, Arabidopsis, and mouse.
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DNA sequencing: bench to bedside and beyond.
PMID 17855400 · PMC2094077 · Nucleic acids research · 2007 · 8 claims · 7 setups
DNA sequencing methods derived from Sanger's 1977 dideoxy method have dominated sequencing for 30 years despite being only incrementally refined.
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Has reproduction · 96
Immuno-detection by sequencing enables large-scale high-dimensional phenotyping in cells.
PMID 29921844 · PMC6008431 · Nature communications · 2018 · 8 claims · 8 setups
ID-seq combines antibody-based protein detection with DNA-sequencing of DNA-tagged antibodies to measure large numbers of (phospho-)proteins in many samples in parallel
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BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.
PMID 10952777 · PMC2363542 · British journal of cancer · 2000 · 7 claims · 4 setups
11 mutations (9 BRCA1, 2 BRCA2) were identified across 105 Turkish patients using combined PTT, sequencing, and heteroduplex analysis.
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Has reproduction · 60
Deconvolution of the hematopoietic stem cell microenvironment reveals a high degree of specialization and conservation.
PMID 35494238 · PMC9046238 · iScience · 2022 · 8 claims · 6 setups
A customized bootstrapping/random-forest divide-and-conquer clustering pipeline integrating three scRNA-seq datasets robustly resolves cell states despite high cell-to-cell similarity within compartments
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A novel approach for rapid screening of mitochondrial D310 polymorphism.
PMID 16433919 · PMC1388229 · BMC cancer · 2006 · 7 claims · 4 setups
A single-step BsaXI RFLP assay can rapidly determine 7-C carriers at the D310 first polyC stretch of mtDNA without sequencing
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Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.
PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups
Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied
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The Universal Protein Resource (UniProt) in 2010.
PMID 19843607 · PMC2808944 · Nucleic acids research · 2010 · 8 claims · 5 setups
UniProt is a centralized, freely accessible, comprehensive knowledgebase of protein sequence and functional annotation maintained by the EBI, SIB and PIR consortium.
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The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.
PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups
No CDX2 mutations predisposing to sporadic colorectal cancer were identified
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Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters.
PMID 12237774 · PMC2364248 · British journal of cancer · 2002 · 8 claims · 8 setups
RhoA, RhoB, Rac1 and Cdc42 protein levels are markedly overexpressed in breast tumours compared to matched normal tissue from the same patient
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Molecular epidemiology of measles viruses in the United States, 1997-2001.
PMID 12194764 · PMC2732556 · Emerging infectious diseases · 2002 · 8 claims · 6 setups
The diversity of measles virus genotypes observed in the US from 1997–2001 reflects multiple imported sources of virus, indicating no strain of measles is endemic in the United States.
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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.