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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Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.
PMID 19716302 · PMC2748900 · Current biology : CB · 2009 · 7 claims · 4 setups
Direct sequencing of a 13-generation pedigree yields a Y-chromosome mutation rate of 3.0 × 10^-8 mutations/nucleotide/generation
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p16 mutation spectrum in the premalignant condition Barrett's esophagus.
PMID 19043591 · PMC2585012 · PloS one · 2008 · 8 claims · 6 setups
44 of 304 Barrett's esophagus patients (14.5%) had p16 mutations (47 total mutations), with a spectrum consistent with oxidative damage and chronic inflammation
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Predominance of CIN versus MSI in the development of rectal cancer at young age.
PMID 12379157 · PMC130963 · BMC cancer · 2002 · 6 claims · 5 setups
MSI occurs in only a small fraction of rectal cancers in young patients (3/30), far below rates reported in mixed young-onset colorectal cancer series
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Intricate targeting of immunoglobulin somatic hypermutation maximizes the efficiency of affinity maturation.
PMID 15867095 · PMC2213188 · The Journal of experimental medicine · 2005 · 7 claims · 6 setups
IgVH genes have evolved precise placement of coding-strand Cs so that AID-induced C-to-T mutations are predominantly silent, especially in the CDRs.
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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups
CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID
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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups
Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series
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Multiple genetic alterations cause frequent and heterogeneous human histocompatibility leukocyte antigen class I loss in cervical cancer.
PMID 10727458 · PMC2193119 · The Journal of experimental medicine · 2000 · 8 claims · 8 setups
Tumor-associated HLA class I alterations were present in 90% of cervical cancer lesions tested
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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Has reproduction · 91
Cotranscriptional RNA strand exchange underlies the gene regulation mechanism in a purine-sensing transcriptional riboswitch.
PMID 35348734 · PMC9756952 · Nucleic acids research · 2022 · 7 claims · 6 setups
A nascent intermediate central helix forms in the yxjA riboswitch that is mutually exclusive with both the aptamer's P1 helix and the expression platform's intrinsic terminator hairpin.
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TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.
PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups
CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue
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Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
PMID 19078957 · PMC2696133 · Nature · 2009 · 8 claims · 8 setups
GNAQ is frequently somatically mutated in blue nevi (83%) and uveal melanoma (46%)
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Getting started in computational immunology.
PMID 18769677 · PMC2518523 · PLoS computational biology · 2008 · 8 claims · 7 setups
Affinity maturation is driven by cycles of somatic hypermutation and affinity-dependent selection acting on B cell Ig receptors.
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A spectrum of severe familial liver disorders associate with telomerase mutations.
PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups
Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.
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Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.
PMID 19654294 · PMC2754824 · Cancer research · 2009 · 8 claims · 7 setups
Secondary BRCA2 mutations restore BRCA2 protein/reading frame and thereby cause acquired platinum and PARP inhibitor resistance in BRCA2-mutated ovarian carcinoma
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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Has reproduction · 90
Evolutionary repair: Changes in multiple functional modules allow meiotic cohesin to support mitosis.
PMID 32155147 · PMC7138332 · PLoS biology · 2020 · 8 claims · 8 setups
Replacing the mitotic kleisin Scc1 with the meiotic kleisin Rec8 impairs sister chromosome cohesion, advances genome replication timing, and reduces reproductive fitness by 45%.
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Has reproduction · 95
Stem rust resistance in wheat is suppressed by a subunit of the mediator complex.
PMID 32111840 · PMC7048732 · Nature communications · 2020 · 6 claims · 8 setups
SuSr-D1 encodes Med15b.D, a subunit of the conserved Mediator complex that regulates transcription of protein-coding genes.
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Has reproduction · 63
Comparative Genomics of Borderline Oxacillin-Resistant Staphylococcus aureus Detected during a Pseudo-outbreak of Methicillin-Resistant S. aureus in a Neonatal Intensive Care Unit.
PMID 35038924 · PMC8764539 · mBio · 2022 · 7 claims · 8 setups
Of 42 isolates flagged as MRSA by screening agar, only 9 were PBP2a- and mecA-positive true MRSA, while the remaining 33 were mecA-negative and largely met criteria for BORSA
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups
TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls
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Has reproduction · 72
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.