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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Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.
PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups
hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)
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Mosaicism in von Hippel-Lindau disease: an event important to recognize.
PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups
The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.
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Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer.
PMID 18842121 · PMC2571110 · BMC cancer · 2008 · 8 claims · 2 setups
Somatic mutations in the mtDNA D-loop are found in 57% of ovarian cancer samples, mostly C-tract length changes and substitutions
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INI1 mutations in meningiomas at a potential hotspot in exon 9.
PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups
A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.
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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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MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
PMID 16834459 · PMC1502153 · PLoS medicine · 2006 · 8 claims · 8 setups
A somatic activating mutation in MPL (W515L, transmembrane domain) is present in 9% (4/45) of JAK2V617F-negative myelofibrosis (MF) patients
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Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.
PMID 11879542 · PMC128918 · Arthritis research · 2002 · 8 claims · 6 setups
Antibody sequences that violate normal ontogenic/developmental constraints indicate a failure of B-cell regulation
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FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).
PMID 19758696 · PMC2826525 · Leukemia research · 2010 · 7 claims · 4 setups
MC, FISH, and SNP-A are complementary techniques whose combined use improves diagnostic yield for detecting del(5q), -7/del(7q), trisomy 8, and del(20q) in MDS
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ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.
PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups
Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH
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Neoadjuvant sintilimab plus chemotherapy in EGFR-mutant NSCLC: Phase 2 trial interim results (NEOTIDE/CTONG2104).
PMID 38897205 · PMC11293361 · Cell reports. Medicine · 2024 · 8 claims · 8 setups
Neoadjuvant sintilimab plus carboplatin/nab-paclitaxel is clinically feasible and tolerable in resectable EGFR-mutant NSCLC, with all 18 patients completing treatment and undergoing radical surgery.
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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups
MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors
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Oncogenic mutations in GNAQ occur early in uveal melanoma.
PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups
Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM
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Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.
PMID 19653712 · PMC2810483 · Archives of pathology & laboratory medicine · 2009 · 6 claims · 7 setups
Anterior diffuse retinoblastoma, traditionally considered sporadic/nonheritable, can arise from a germline RB1 mutation and thus may be heritable
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Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.
PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups
-26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells
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Targeted disruption of the S1P2 sphingosine 1-phosphate receptor gene leads to diffuse large B-cell lymphoma formation.
PMID 19903857 · PMC2973841 · Cancer research · 2009 · 8 claims · 8 setups
S1P2−/− mice develop clonal B-cell lymphomas with age, with ~half affected by 1.5-2 years