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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Novel selection and genetic characterisation of an etoposide-resistant human leukaemic CCRF-CEM cell line.
PMID 8382508 · PMC1968246 · British journal of cancer · 1993 · 8 claims · 5 setups
CEM/VP-1 is 15-fold more resistant to etoposide than parental CCRF-CEM cells
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Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation.
PMID 18947387 · PMC2579299 · Molecular cancer · 2008 · 8 claims · 8 setups
A novel t(2;11)(q11.2;p15.1) translocation was identified as the sole cytogenetic abnormality in a childhood T-ALL case
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Pathogenesis of vestibular schwannoma in ring chromosome 22.
PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups
Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)
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Loss of cyclin-dependent kinase inhibitor genes and chromosome 9 karyotypic abnormalities in human bladder cancer cell lines.
PMID 7577470 · PMC2033929 · British journal of cancer · 1995 · 8 claims · 4 setups
Homozygous deletion of both p15 and p16 occurred in 7 of 13 (54%) independent bladder cancer cell lines tested
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Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.
PMID 19806195 · PMC2751832 · PloS one · 2009 · 8 claims · 8 setups
The W438 hPolλ variant has reduced base substitution fidelity in vitro compared to wild-type R438
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Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups
Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)
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Genomic and epigenetic instability in colorectal cancer pathogenesis.
PMID 18773902 · PMC2866182 · Gastroenterology · 2008 · 8 claims · 7 setups
Genomic instability (CIN or MSI) is a key early molecular step in colorectal tumorigenesis that may initiate rather than merely accompany the adenoma-carcinoma sequence
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Defective DNA repair and increased genomic instability in Artemis-deficient murine cells.
PMID 12615897 · PMC2193825 · The Journal of experimental medicine · 2003 · 8 claims · 8 setups
Artemis-deficient ES cells are severely impaired in VDJ coding joining but retain relatively normal RS (signal) joining
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Integration of cytogenetic landmarks into the draft sequence of the human genome.
PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups
7,600 cytogenetically defined landmarks (from a set of 8,877 clones) were placed on the draft sequence of the human genome as a public resource
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.
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APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.
PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups
Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.
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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups
The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap
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The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.
PMID 19956657 · PMC2777318 · PloS one · 2009 · 6 claims · 4 setups
The FOXL2 c.402C>G mutation is not commonly found in a wide variety of other cancers and is likely pathognomonic for A-GCTs and closely related tumors.
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups
Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.