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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A catalog of human cDNA expression clones and its application to structural genomics.
PMID 15345055 · PMC522878 · Genome biology · 2004 · 8 claims · 7 setups
A high-throughput screening approach can identify human cDNA clones from the hEx1 library that express soluble protein in E. coli
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52-kD SS-A/Ro: genomic structure and identification of an alternatively spliced transcript encoding a novel leucine zipper-minus autoantigen expressed in fetal and adult heart.
PMID 7561701 · PMC2192297 · The Journal of experimental medicine · 1995 · 7 claims · 7 setups
The 52-kD SS-A/Ro gene spans 10 kb of DNA and is composed of seven exons, with the translation initiation codon in exon 2 and the leucine zipper encoded by exon 4.
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Molecular cloning, genomic characterization and over-expression of a novel gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR and macaque testis.
PMID 12908878 · PMC194569 · BMC genomics · 2003 · 8 claims · 7 setups
XRRA1 is a novel gene down-regulated ~2-fold in XR-resistant HCT116 Clone2_XRR relative to HCT116 Clone10, identified via cDNA microarray
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Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.
PMID 18283111 · PMC2265576 · The Journal of cell biology · 2008 · 8 claims · 6 setups
α1-antitrypsin is a novel ERGIC-53 cargo protein identified via a YFP protein-fragment complementation assay (PCA) cDNA library screen
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Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.
PMID 19806195 · PMC2751832 · PloS one · 2009 · 8 claims · 8 setups
The W438 hPolλ variant has reduced base substitution fidelity in vitro compared to wild-type R438
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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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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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Are gene expression microarray analyses reliable? A review of studies of retinoic acid responsive genes.
PMID 15626329 · PMC5171945 · Genomics, proteomics & bioinformatics · 2003 · 6 claims · 8 setups
Published microarray studies aiming to identify RA-responsive genes show substantial, often contradictory, differences in results across research groups.
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Identification of novel citrullinated autoantigens of synovium in rheumatoid arthritis using a proteomic approach.
PMID 17125526 · PMC1794520 · Arthritis research & therapy · 2006 · 8 claims · 6 setups
51 citrullinated protein spots were detected in RA synovial tissue, of which 30 (58.8%) were autoantigenic (reactive with RA sera)
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.
PMID 19843922 · PMC2766080 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 7 setups
Homomeric Kir2.1-V227F channels have significantly reduced I K1 (inward reduced ~40%; outward reduced 85-99% at -40 to -60mV) compared to WT
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Assembling a jigsaw puzzle with 20,000 parts.
PMID 12801408 · PMC193613 · Genome biology · 2003 · 8 claims · 8 setups
Re-routing the intracellular interaction domains of receptor tyrosine kinases can redirect their signaling output, e.g. converting a growth signal into an apoptosis signal.
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Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain.
PMID 15737014 · PMC549606 · PLoS medicine · 2005 · 7 claims · 6 setups
A secondary EGFR exon 20 mutation (T790M) is found in tumors from patients with acquired resistance to gefitinib or erlotinib
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Modification of the Creator recombination system for proteomics applications--improved expression by addition of splice sites.
PMID 16519801 · PMC1421398 · BMC biotechnology · 2006 · 8 claims · 8 setups
The Creator Splice system (5' intron splicing) significantly increases protein expression levels compared to the standard Creator system
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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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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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What have we learned from the congenital myasthenic syndromes.
PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups
CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction
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Switches in expression of Plasmodium falciparum var genes correlate with changes in antigenic and cytoadherent phenotypes of infected erythrocytes.
PMID 7606775 · PMC3730239 · Cell · 1995 · 6 claims · 8 setups
Expression of a specific var gene (A4var) correlates with A4 antigenic type and with binding to ICAM-1
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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups
PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer