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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Has reproduction · 73
Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.
PMID 34779495 · PMC8611403 · Oncology reports · 2022 · 7 claims · 8 setups
NF1 is highly expressed in cetuximab-sensitive colorectal cancer cell lines (NCI-H508, Caco2) but weakly expressed in cetuximab-resistant lines (KM12C, SW480)
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The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups
NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots
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Chromosomal phenotypes and submicroscopic abnormalities.
PMID 15601540 · PMC3525070 · Human genomics · 2004 · 8 claims · 8 setups
Microdeletion syndromes are flanked by region-specific low-copy repeats (LCRs), and non-allelic homologous recombination (NAHR) between these LCRs, via interchromosomal or intrachromosomal mechanisms, causes the deletions.
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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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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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Has reproduction
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
PMID 35764878 · PMC9437031 · European journal of human genetics : EJHG · 2022 · 8 claims · 6 setups
HRAS c.466C>T p.(Phe156Leu) is a novel de novo pathogenic variant causing an attenuated Costello syndrome phenotype in two unrelated boys
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Glioblastoma subclasses can be defined by activity among signal transduction pathways and associated genomic alterations.
PMID 19915670 · PMC2771920 · PloS one · 2009 · 8 claims · 6 setups
Proteomic analysis of glioma samples reveals three signaling subclasses of GBM associated with predominant EGFR activation, PDGFR activation, or loss of NF1
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Has reproduction
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
PMID 32499600 · PMC7576819 · European journal of human genetics : EJHG · 2020 · 7 claims · 3 setups
The novel HRAS c.186_206dup p.(Glu62_Arg68dup) variant was identified in an individual with hypertrophic cardiomyopathy, Chiari 1 malformation and ectodermal findings consistent with a RASopathy.
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Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.
PMID 18925961 · PMC2588460 · BMC cancer · 2008 · 8 claims · 4 setups
aCGH profiling of CMML samples reveals three profile types: normal-like (two-thirds of cases), large chromosomal abnormalities, and focal single/few-gene gains or losses
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Human synthetic lethal inference as potential anti-cancer target gene detection.
PMID 20015360 · PMC2804737 · BMC systems biology · 2009 · 7 claims · 8 setups
Targeting the synthetic lethal partner of a gene mutated in cancer selectively damages tumor cells while sparing healthy cells, offering a rationale for anti-cancer drug design
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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)