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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Altered spin state equilibrium in the T309V mutant of cytochrome P450 2D6: a spectroscopic and computational study.
PMID 17318599 · PMC1915625 · Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2007 · 7 claims · 7 setups
The T309V mutation shifts the CYP2D6 heme spin equilibrium toward the six-coordinate low-spin (6cLS) state, decreasing the five-coordinate high-spin (5cHS) fraction relative to wild type.
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Transcription dynamics.
PMID 19782025 · PMC6326382 · Molecular cell · 2009 · 8 claims · 8 setups
Transcription factors locate their sparse specific binding sites via a 3D scanning mechanism combining rapid nuclear diffusion with frequent, very transient (seconds-scale) nonspecific chromatin interactions.
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Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
PMID 16855287 · PMC1524908 · Nucleic acids research · 2006 · 8 claims · 8 setups
Splicing-affecting genomic variations can account for up to 50% of mutations leading to gene dysfunction in some genes
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Rapid identification of PAX2/5/8 direct downstream targets in the otic vesicle by combinatorial use of bioinformatics tools.
PMID 18828907 · PMC2760872 · Genome biology · 2008 · 8 claims · 8 setups
A combinatorial bioinformatics pipeline (evolutionary double filtering comparative genomics, GXD/ZFIN database queries, MEDLINE text mining) can rapidly and specifically identify PAX2/5/8 direct downstream targets in the otic vesicle
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A combination of genomic approaches reveals the role of FOXO1a in regulating an oxidative stress response pathway.
PMID 18301748 · PMC2244703 · PloS one · 2008 · 8 claims · 7 setups
FOXO1a mRNA and protein expression are elevated in human liver compared to chimpanzee liver
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Human genomic diversity, viral genomics and proteomics, as exemplified by human papillomaviruses and H5N1 influenza viruses.
PMID 19706363 · PMC3525194 · Human genomics · 2009 · 8 claims · 6 setups
A novel HPV type (HPV-85) was identified and phylogenetically characterized, showing closest relatedness to HPV-70/39/18/45/59 within the A7 genital HPV group
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Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
PMID 19808356 · PMC2765062 · Circulation. Heart failure · 2009 · 8 claims · 4 setups
Myofilament protein levels (MYBPC3 and MYH7) are increased, not decreased, in HCM patients carrying a mutation in either gene compared to healthy heart tissue
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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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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
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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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Mutation analysis of the MDM4 gene in German breast cancer patients.
PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups
Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients
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Has reproduction · 70
Extensive androgen receptor enhancer heterogeneity in primary prostate cancers underlies transcriptional diversity and metastatic potential.
PMID 36450752 · PMC9712620 · Nature communications · 2022 · 8 claims · 8 setups
AR enhancer/chromatin binding usage is highly heterogeneous between primary prostate tumors, with <5% of all AR binding sites shared by half of tumors analyzed.
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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
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups
The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells
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Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.
PMID 18804399 · PMC2702757 · Parkinsonism & related disorders · 2009 · 6 claims · 4 setups
The same LRRK2 I2020T mutation can produce diverse neuropathologies (pure nigral degeneration, Lewy body pathology, or MSA-P) even when clinical presentation and PET findings are virtually identical across family members.
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Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups
Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband
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With the finished human genome in hand, what next?
PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups
Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.
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Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups
The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.
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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.