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).
-
Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
-
Has reproduction · 93
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
PMID 38600112 · PMC11006913 · Nature communications · 2024 · 8 claims · 5 setups
Many of the 92 assayed HD missense variants alter DNA binding affinity and/or specificity compared to their corresponding reference alleles
-
Has reproduction · 92
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
PMID 41124077 · PMC12795473 · Cell reports · 2025 · 6 claims · 5 setups
Non-DNA-contacting residues, especially in the loop between helices 2 and 3 and in wing 2, control mono- vs. bispecificity of FH domains for the FKH and FHL motifs
-
Full-text index only
BioHealthBase: informatics support in the elucidation of influenza virus host pathogen interactions and virulence.
PMID 17965094 · PMC2238987 · Nucleic acids research · 2008 · 7 claims · 5 setups
BioHealthBase BRC is a public integrated bioinformatics database and analysis resource for influenza virus, Francisella tularensis, Mycobacterium tuberculosis, Microsporidia species and ricin toxin.
-
Has reproduction · 67
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · PMC12646653 · The Journal of clinical investigation · 2025 · 8 claims · 8 setups
Heterozygous CDKL1 missense variants (Cys143Arg, Ser206Leu, Thr135Met) were identified in 6 patients from 3 families with TAAD spectrum disorders
-
Has reproduction · 68
Mod(mdg4) variants repress telomeric retrotransposon HeT-A by blocking subtelomeric enhancers.
PMID 36373634 · PMC9723646 · Nucleic acids research · 2022 · 8 claims · 8 setups
Specific splice variants of Mod(mdg4) repress HeT-A by blocking subtelomeric enhancers in ovarian somatic cells (OSCs)
-
Full-text index only
Mutation screening of HSF4 in 150 age-related cataract patients.
PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups
Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.
-
Full-text index only
Flanking p10 contribution and sequence bias in matrix based epitope prediction: revisiting the assumption of independent binding pockets.
PMID 18925947 · PMC2600787 · BMC structural biology · 2008 · 8 claims · 3 setups
The extended matrix PP10 (built from a proline-containing peptide library) shows significant improvement in binding prediction over the original nine-residue matrix P9
-
Full-text index only
A novel method of screening thrombin-inhibiting DNA aptamers using an evolution-mimicking algorithm.
PMID 16002787 · PMC1174901 · Nucleic acids research · 2005 · 8 claims · 5 setups
An evolution-mimicking algorithm (EMA) that shuffles and mutates loop sequences while keeping the G-quartet intact can screen DNA aptamers based on inhibitory activity rather than binding affinity.
-
Full-text index only
Mutation analysis of the MSMB gene in familial prostate cancer.
PMID 19997100 · PMC2816656 · British journal of cancer · 2010 · 8 claims · 5 setups
No deleterious mutations were found in the MSMB coding region in 192 familial prostate cancer cases
-
Has reproduction · 98
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.
PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups
Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)
-
Has reproduction
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
PMID 35764878 · PMC9437031 · European journal of human genetics : EJHG · 2022 · 8 claims · 6 setups
HRAS c.466C>T p.(Phe156Leu) is a novel de novo pathogenic variant causing an attenuated Costello syndrome phenotype in two unrelated boys
-
Full-text index only
C-terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense.
PMID 19997494 · PMC2778949 · PLoS pathogens · 2009 · 8 claims · 8 setups
The C-terminal helix of apoL1 is entirely responsible for its interaction with SRA
-
Has reproduction · 61
RegulonDB 11.0: Comprehensive high-throughput datasets on transcriptional regulation in Escherichia coli K-12.
PMID 35584008 · PMC9465075 · Microbial genomics · 2022 · 8 claims · 7 setups
RegulonDB 11.0 is a radical upgrade offering access to more than 2000 high-throughput datasets on transcriptional regulation in E. coli K-12.
-
Has reproduction · 100
Recurrent RNA edits in human preimplantation potentially enhance maternal mRNA clearance.
PMID 36543858 · PMC9772385 · Communications biology · 2022 · 8 claims · 7 setups
Compiled the largest human embryonic A-to-I editome to date from 2071 RNA-seq transcriptomes and identified thousands of per-stage Recurrent Embryonic Edits (REEs, present in ≥50% of samples per stage)
-
Has reproduction · 54
A 14-bp motif in the KIT active promoter region is critical for melanin accumulation in yaks, mice, and humans.
PMID 40629379 · PMC12239316 · BMC biology · 2025 · 8 claims · 7 setups
A 14-bp deletion in the KIT gene promoter region is associated with the all-white phenotype in yaks, identified via GWAS
-
Full-text index only
Zinc finger nucleases: custom-designed molecular scissors for genome engineering of plant and mammalian cells.
PMID 16251401 · PMC1270952 · Nucleic acids research · 2005 · 8 claims · 8 setups
ZFNs combining the FokI nuclease domain with custom zinc finger proteins can deliver site-specific double-strand breaks to plant and mammalian genomes.
-
Full-text index only
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups
A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)
-
Full-text index only
Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.
PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups
Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency
-
Full-text index only
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance