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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Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.
PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups
High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.
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Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.
PMID 17912529 · PMC4876910 · World journal of urology · 2007 · 8 claims · 8 setups
Activating FGFR3 mutations occur frequently in bladder cancer and are strongly associated with low tumour grade and stage
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BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas.
PMID 17453004 · PMC2359941 · British journal of cancer · 2007 · 8 claims · 4 setups
BRAF V600E mutation was found in 4 of 20 (20%) anaplastic thyroid carcinomas overall
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Analysis of human prostate cancers and cell lines for mutations in the TP53 and KLF6 tumour suppressor genes.
PMID 12915879 · PMC2376923 · British journal of cancer · 2003 · 4 claims · 4 setups
KLF6 exon2 miscoding mutations are uncommon in prostate cancer, contrary to the earlier report of ~55% mutation frequency
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A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups
A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.
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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups
A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.
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p53 as a potential predictive factor of response to chemotherapy: feasibility of p53 assessment using a functional test in yeast from trucut biopsies in breast cancer patients.
PMID 11875738 · PMC2375302 · British journal of cancer · 2002 · 8 claims · 6 setups
p53 status can be reliably determined by yeast functional assay from single frozen sections of trucut biopsies
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Homogeneous point mutation detection by quantum dot-mediated two-color fluorescence coincidence analysis.
PMID 16517937 · PMC1390686 · Nucleic acids research · 2006 · 8 claims · 6 setups
QD-mediated two-color fluorescence coincidence detection combined with oligonucleotide ligation assay (OLA) enables separation-free, homogeneous point mutation detection.
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FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer.
PMID 17668422 · PMC2443273 · The Journal of pathology · 2007 · 8 claims · 4 setups
FGFR3 mutations occur in 42% of primary urothelial carcinomas and are significantly associated with low tumour grade and stage
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A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups
A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.
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Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade.
PMID 15138484 · PMC2409464 · British journal of cancer · 2004 · 8 claims · 4 setups
High-grade breast tumours show a high frequency of LOH and/or abnormal expression of ATM, BRCA1 and TP53
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The diagnosis and management of pre-invasive breast disease: promise of new technologies in understanding pre-invasive breast lesions.
PMID 14580250 · PMC314415 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups
ADH and ductal carcinoma in situ (DCIS) are precursor lesions molecularly similar to adjacent invasive breast cancer
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Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.
PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups
Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.
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Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients.
PMID 17626639 · PMC1952070 · BMC cancer · 2007 · 7 claims · 4 setups
EGFR mutations (exon 19 deletions, exon 21 L858R) did not correlate with gefitinib response in this cohort
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The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.
PMID 16859552 · PMC1538596 · BMC genomics · 2006 · 7 claims · 7 setups
Numts co-amplified with mtDNA during PCR generate false heteroplasmic signals at specific nucleotide positions.
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Squamous morules are functionally inert elements of premalignant endometrial neoplasia.
PMID 19180120 · PMC2633489 · Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2009 · 8 claims · 5 setups
Squamous morules are hormonally incompetent, lacking ER/PR expression and proliferative activity, unlike the glandular component
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Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.
PMID 18983905 · PMC2693938 · Experimental gerontology · 2009 · 8 claims · 6 setups
mtDNA deletion mutations induce ETS enzyme abnormalities (COXneg/SDHhyp phenotypes) linked to intra-fiber atrophy and fiber loss
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Transcription dynamics.
PMID 19782025 · PMC6326382 · Molecular cell · 2009 · 8 claims · 8 setups
Transcription factors locate their sparse specific binding sites via a 3D scanning mechanism combining rapid nuclear diffusion with frequent, very transient (seconds-scale) nonspecific chromatin interactions.
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Gene co-expression network analysis in human spinal cord highlights mechanisms underlying amyotrophic lateral sclerosis susceptibility.
PMID 33707641 · PMC7970949 · Scientific reports · 2021 · 8 claims · 8 setups
WGCNA on control human cervical spinal cord RNA-seq identifies 13 co-expression modules (SC.M1-M13), each representing distinct biological processes or cell types.