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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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
PMID 18552984 · PMC2426732 · Molecular vision · 2008 · 8 claims · 4 setups
Coding/flanking regions of RHO, PRPF31, and IMPDH1, plus exons 4F/4G/4H of RP1, were PCR-amplified and directly sequenced in 48 isolated and 53 adRP Indian patients and 75 controls
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Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.
PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups
In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.
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Human disease classification in the postgenomic era: a complex systems approach to human pathobiology.
PMID 17625512 · PMC1948102 · Molecular systems biology · 2007 · 8 claims · 5 setups
Current syndromic disease classification lacks specificity despite historically serving clinicians well
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Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.
PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL
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Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.
PMID 19010816 · PMC6953412 · Molecular cancer research : MCR · 2008 · 8 claims · 8 setups
Activating RAS-MAPK pathway mutations are present in >70% of serous LMP tumors versus ~12.5% of serous ovarian carcinomas
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Has reproduction · 90
Cell type differences in human cytomegalovirus transcription and epigenetic regulation with insights into major immediate-early enhancer-promoter control.
PMID 40758707 · PMC12333995 · PLoS pathogens · 2025 · 8 claims · 7 setups
Six viral promoters (UL5, UL72, EP3, UL57-AS, US16-AS, US30-S) are ≥50-fold more active in D-NT2 than in HFF at 96 h post-infection and are classified as viral long promoters.
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Characterizing natural variation using next-generation sequencing technologies.
PMID 19801172 · PMC3994700 · Trends in genetics : TIG · 2009 · 8 claims · 8 setups
Next-generation sequencing enables complete, genome-wide surveys of genetic variation at unprecedented resolution, overcoming limitations of genotyping panels and microarrays.
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Gata-3 and mammary cell fate.
PMID 17381824 · PMC1868924 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Gata-3 is required for formation of mammary placodes during embryonic development
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Candidate target genes for loss of heterozygosity on human chromosome 17q21.
PMID 15187990 · PMC2409524 · British journal of cancer · 2004 · 8 claims · 5 setups
JUP (plakoglobin) is the only identified gene physically located between the D17S746 and D17S846 markers that define the smallest common region of LOH on chromosome 17q21
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Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.
PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups
Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.
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Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.
PMID 15722479 · PMC549431 · Nucleic acids research · 2005 · 7 claims · 4 setups
Two base deletion probes display the highest average hybridization specificity, followed by single base substitution, single base deletion, and single base insertion probes.
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions.
PMID 19934256 · PMC2808967 · Nucleic acids research · 2010 · 8 claims · 6 setups
SuperCYP is a comprehensive relational database aggregating CYP enzyme, drug metabolism, SNP/mutation, and structural information from literature and web resources.
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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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An optimized procedure for the design and evaluation of Ecotilling assays.
PMID 18973671 · PMC2586031 · BMC genomics · 2008 · 8 claims · 7 setups
An optimized procedure integrating Vector NTI, Ensembl, Genomatix Suite, GelBuddy, and sequencing/functional-prediction tools streamlines the design, evaluation and interpretation of human Ecotilling assays
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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
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Genetics of osteoarticular disorders, Florence, Italy, 22-23 February 2002.
PMID 12223106 · PMC128940 · Arthritis research · 2002 · 8 claims · 8 setups
OP and OA are common, polygenic, multifactorial quantitative disorders influenced by both low-penetrance genetic variants and environmental factors
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Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS.
PMID 15731331 · PMC549577 · Nucleic acids research · 2005 · 8 claims · 7 setups
Multiplexed base-specific cleavage/MALDI-TOF MS (Multiplexed Comparative Sequence Analysis) enables simultaneous discovery of sequence polymorphisms across multiple target regions
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Positive selection for the male functionality of a co-retroposed gene in the hominoids.
PMID 19832993 · PMC2773790 · BMC evolutionary biology · 2009 · 8 claims · 8 setups
PIPSL is an extraordinary co-retroposed protein-coding gene that may participate in male-specific functions of humans and close relatives