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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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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Breast cancer proteomics reveals correlation between estrogen receptor status and differential phosphorylation of PGRMC1.
PMID 18922159 · PMC2614521 · Breast cancer research : BCR · 2008 · 8 claims · 5 setups
PGRMC1 protein spots are differentially abundant between ER-negative and ER-positive breast tumors, with two of three spots more abundant in ER-negative tumors
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Cancer biomarker AKR1B10 and carbonyl metabolism.
PMID 19028477 · PMC6193474 · Chemico-biological interactions · 2009 · 8 claims · 6 setups
AKR1B10 reduces the anticancer drug daunorubicin to daunorubicinol, decreasing its chemotherapeutic effectiveness
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Proteomics in animal models of Alzheimer's and Parkinson's diseases.
PMID 18703168 · PMC2630427 · Ageing research reviews · 2009 · 8 claims · 6 setups
Proteomics studies in APPSw transgenic mice reveal differential expression of proteins involved in metabolism, ubiquitin/proteasome system, cellular transport, synaptic/axonal integrity, and inflammation
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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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A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups
A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.
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Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups
A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination
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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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Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups
A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).
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Ankyrin-linked hereditary spherocytosis in an African-American kindred.
PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups
A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.
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Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.
PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups
pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC
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MutDB: update on development of tools for the biochemical analysis of genetic variation.
PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups
MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)
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A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups
A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.
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One-pot shotgun quantitative mass spectrometry characterization of histones.
PMID 19764812 · PMC2798817 · Journal of proteome research · 2009 · 8 claims · 8 setups
One-pot propionylation and trypsin digestion of unfractionated bulk histones enables quantitative Bottom Up MS characterization of histone PTMs without prior off-line HPLC or SDS-PAGE purification
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Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
PMID 18397877 · PMC2427143 · Human molecular genetics · 2008 · 8 claims · 8 setups
All six somatic TSC1 missense mutations found in bladder tumours cause loss of TSC1 function, but via distinct molecular mechanisms.
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Mutational analysis of p80 coilin indicates a functional interaction between coiled bodies and the nucleolus.
PMID 7490287 · PMC2200013 · The Journal of cell biology · 1995 · 8 claims · 7 setups
p80 coilin plays an important role in subnuclear organization and there is a functional interaction between coiled bodies and nucleoli
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Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.
PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups
Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains