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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K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.
PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups
K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event
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Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups
An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype
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Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.
PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups
Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC
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Role of p16/MTS1, cyclin D1 and RB in primary oral cancer and oral cancer cell lines.
PMID 10389982 · PMC2363027 · British journal of cancer · 1999 · 7 claims · 5 setups
p16/MTS1 mutations and loss of expression are very common in OSCC cell lines and less frequent in primary OSCC tumours
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Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups
The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits
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Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.
PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups
A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma
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Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
PMID 17697348 · PMC2042502 · BMC genetics · 2007 · 8 claims · 5 setups
CTCE eliminates the need for laboratory optimization of separation conditions for each exonic target sequence.
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Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.
PMID 19656662 · PMC2744841 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups
Pyrosequencing™ can substitute for traditional sequencing methods, providing rapid (<1 h) and reliable detection of antibiotic resistance mutations in P. aeruginosa
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Has reproduction · 88
CIRCprimerXL: Convenient and High-Throughput PCR Primer Design for Circular RNA Quantification.
PMID 36304334 · PMC9580850 · Frontiers in bioinformatics · 2022 · 8 claims · 5 setups
CIRCprimerXL is a high-throughput, user-friendly circRNA RT-qPCR primer design pipeline available as both a web tool and a standalone Nextflow/Docker pipeline
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Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.
PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups
All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).
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Novel mutation of the PRNP gene of a clinical CJD case.
PMID 17129366 · PMC1693557 · BMC infectious diseases · 2006 · 7 claims · 5 setups
A novel PRNP point mutation at codon 193 (ACC→ATC, T193I, C578T transition) was identified in a CJD patient, heterozygous for threonine/isoleucine
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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups
Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening
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Additional EFNB1 mutations in craniofrontonasal syndrome.
PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups
Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients
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Point mutations in GLI3 lead to misregulation of its subcellular localization.
PMID 19829694 · PMC2758996 · PloS one · 2009 · 6 claims · 8 setups
The MID1-α4-PP2A complex regulates the subcellular localization and transcriptional activity of GLI3.
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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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Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.
PMID 8198970 · PMC1969417 · British journal of cancer · 1994 · 6 claims · 8 setups
A significant minority of leiomyosarcomas harbor p53 gene point mutations or deletions
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Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.
PMID 8957064 · PMC5921002 · Japanese journal of cancer research : Gann · 1996 · 6 claims · 4 setups
Both components of combined hepatocellular-cholangiocellular carcinoma share the same genetic and phenotypic character and may arise from the same origin in some cases
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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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Recurrent KRAS codon 146 mutations in human colorectal cancer.
PMID 16969076 · PMC2714972 · Cancer biology & therapy · 2006 · 8 claims · 8 setups
KRAS A146 missense mutations are a recurrent, previously unrecognized class of somatic mutation in colorectal cancer
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.