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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Of brain and bone: the unusual case of Dr. A.
PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups
Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex
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A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups
A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family
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A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
PMID 19956413 · PMC2786890 · Molecular vision · 2009 · 7 claims · 4 setups
A novel missense mutation (1565T→A) in exon 12 of TGFBI, causing an I522N amino acid substitution, causes lattice corneal dystrophy type I in the studied Chinese family.
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Alzheimer's disease biomarker discovery in symptomatic and asymptomatic patients: experimental approaches and future clinical applications.
PMID 19796674 · PMC2840994 · Experimental gerontology · 2010 · 8 claims · 4 setups
cDNA microarray screening of 6794 genes identified 32 genes aberrantly expressed (>1.8-fold) in the superior temporal gyrus of moderate dementia cases versus cognitively normal controls
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The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.
PMID 19784393 · PMC2751802 · Molecular vision · 2009 · 6 claims · 4 setups
A novel MYOC missense mutation, Y371D (1111t→g), causes an aggressive, autosomal dominant form of JOAG in this family.
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Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups
A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.
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Has reproduction · 93
Experimental identification and in silico prediction of bacterivory in green algae.
PMID 33649548 · PMC8245530 · The ISME journal · 2021 · 7 claims · 6 setups
Five prasinophyte strains (Pterosperma cristatum NIES626, Pyramimonas parkeae CCMP726, Pyramimonas parkeae NIES254, Nephroselmis pyriformis RCC618, Dolichomastix tenuilepis CCMP3274) ingest live fluorescently labeled bacteria, detected by microscopy and/or flow cytometry
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Has reproduction · 59
Comparing time series transcriptome data between plants using a network module finding algorithm.
PMID 31164912 · PMC6544932 · Plant methods · 2019 · 8 claims · 6 setups
Converting gene expression patterns into co-expression networks and applying a cross-species network module finding algorithm (OrthoClust with simulated annealing) solves the problem of matching developmental stages between two species without requiring one-to-one stage mapping.
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Has reproduction · 93
Under the Shadow: Old-biased Genes Are Subject to Weak Purifying Selection at Both the Tissue- and Cell Type-Specific Levels.
PMID 41092135 · PMC12569596 · Genome biology and evolution · 2025 · 7 claims · 6 setups
ADICT (age-related decrease in transcriptome conservation) is commonly found in ageing tissues of nonmammalian species, including chicken brain, killifish liver and skin, and fruit fly brain
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Has reproduction · 64
Blood Transcriptome Analysis of Septic Patients Reveals a Long Non-Coding Alu-RNA in the Complement C5a Receptor 1 Gene.
PMID 35447887 · PMC9027897 · Non-coding RNA · 2022 · 6 claims · 7 setups
A computational pipeline intersecting immune gene coordinates with Alu element coordinates can identify candidate Alu-lncRNAs
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Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups
Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number
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Global genetic diversity of human metapneumovirus fusion gene.
PMID 15207075 · PMC3323143 · Emerging infectious diseases · 2004 · 8 claims · 6 setups
Phylogenetic analysis of the HMPV F gene identifies two main groups (A and B, 93%-96% amino acid identity) further divided into four subgroups (A1, A2, B1, B2)
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Getting it right: being smarter about clinical trials.
PMID 16608383 · PMC1435786 · PLoS medicine · 2006 · 9 claims · 8 setups
Bias and confounding in observational studies can produce misleading associations that are overturned by randomized trials (e.g., HRT).
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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups
Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP
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Application of machine learning in SNP discovery.
PMID 16398931 · PMC1955739 · BMC bioinformatics · 2006 · 8 claims · 6 setups
PolyBayes produces high false-positive SNP predictions even with stringent parameters
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Narcisse: a mirror view of conserved syntenies.
PMID 17981845 · PMC2238891 · Nucleic acids research · 2008 · 8 claims · 4 setups
Narcisse is a database/web tool providing an integrated, multi-level comparative analysis of sequence similarities and conserved chromosomal segments (syntenies) across animal, plant, fungal and bacterial completely sequenced genomes.
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Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
PMID 17615541 · PMC2768756 · Molecular vision · 2007 · 8 claims · 4 setups
Eleven different RS1 mutations were identified in 12 Chinese XLRS families, including four novel mutations (26delT, 488delG, Asp145His, Arg156Gly).
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A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.
PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups
A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family
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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups
Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2