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
A transcriptomic atlas of Aedes aegypti reveals detailed functional organization of major body parts and gut regional specializations in sugar-fed and blood-fed adult females.
PMID 35471187 · PMC9113746 · eLife · 2022 · 8 claims · 5 setups
Created Aegypti-Atlas, an online RNAseq resource covering Ae. aegypti body parts, gut regions, and a blood meal digestion time course
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Has reproduction · 98
Systems spatiotemporal dynamics of traumatic brain injury at single-cell resolution reveals humanin as a therapeutic target.
PMID 35951114 · PMC9372016 · Cellular and molecular life sciences : CMLS · 2022 · 8 claims · 8 setups
Coordinated gene expression patterns across cell types are disrupted and re-organized by mTBI with distinct regional, cellular, and temporal (24-h vs 7-day) specificity.
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Has reproduction · 78
A single-cell compendium of human cerebrospinal fluid identifies disease-associated immune cell populations.
PMID 39744938 · PMC11684814 · The Journal of clinical investigation · 2025 · 8 claims · 4 setups
Integration of public and newly generated scRNA-seq datasets yields a compendium of 139 subjects (193 samples, 403,973 immune cells) spanning CSF and blood across healthy controls and multiple neurologic diseases.
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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers.
PMID 11250722 · PMC138789 · Breast cancer research : BCR · 2000 · 8 claims · 8 setups
BRCA1 and BRCA2 mutations confer an 80-85% lifetime risk (by age 80) of female breast cancer
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Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.
PMID 11556835 · PMC2375072 · British journal of cancer · 2001 · 6 claims · 4 setups
MD-CFLP can detect DNA sequence alterations (single-base substitutions, small insertions/deletions) in BRCA1 fragments longer than 1 kb
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A big circuit model.
PMID 12940284 · PMC1316925 · Environmental health perspectives · 2003 · 8 claims · 8 setups
In early prostate carcinogenesis, apoptosis signals are primarily suppressed rather than growth rate being increased.
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Report on the Molecular Approaches to Osteoarthritis Symposium, Imperial College London, UK, 18-20 April 2004.
PMID 15380034 · PMC546282 · Arthritis research & therapy · 2004 · 8 claims · 8 setups
OA cartilage and synovium show an 'IL-1 signature' of upregulated inflammatory cytokines/chemokines, with peripheral blood leukocytes possibly activated by trafficking through affected joints
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Molecular variants of the ATM gene in Hodgkin's disease in children.
PMID 14735203 · PMC2409549 · British journal of cancer · 2004 · 8 claims · 4 setups
Missense variants of the ATM gene occur in childhood Hodgkin lymphoma but at low frequency (9%), and thus do not play a major role in oncogenesis of the disease
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Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.
PMID 15841082 · PMC2361763 · British journal of cancer · 2005 · 8 claims · 5 setups
Somatic missense GRIM-19 mutations occur in a subset of sporadic Hürthle cell carcinomas but not in non-Hürthle cell thyroid carcinomas or blood donors
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups
Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)
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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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MMASS: an optimized array-based method for assessing CpG island methylation.
PMID 17041235 · PMC1635254 · Nucleic acids research · 2006 · 8 claims · 7 setups
MMASS-v2 (optimized AciI/HinP1I/HpyCH4IV/HpaII enzyme combination with McrBC digestion) offers improved sensitivity and statistical power for microarray-based CpG island methylation detection compared to MMASS-v1, MMASS-sub and the Nouzova method
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups
ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable
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MLGA--a rapid and cost-efficient assay for gene copy-number analysis.
PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups
MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis
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Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups
OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.
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Role of variation in the serotonin transporter protein gene (SLC6A4) in trait disturbances in the ventral anterior cingulate in bipolar disorder.
PMID 19037205 · PMC2826628 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 7 claims · 4 setups
The 5-HTTLPR s allele contributes to a trait-related, genetically-derived neurobiological subgroup within BD characterized by prominent vACC dysfunction.
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A novel GJA8 mutation causing a recessive triangular cataract.
PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups
A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.
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Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups
A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family