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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RAPseq enables large-scale identification of RBP-RNA interactions and reveals essentials of post-transcriptional gene regulation.
PMID 41755635 · PMC12956339 · Nucleic acids research · 2026 · 7 claims · 8 setups
RAPseq is a novel in vitro, antibody-free and cross-linking-free method that profiles RBP binding to native cellular RNA transcriptome-wide using recombinant Halo-tagged RBPs and affinity purification followed by sequencing.
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Development of a potent monoclonal antibody for treatment of human metapneumovirus infections.
PMID 41680141 · PMC13013820 · Nature communications · 2026 · 8 claims · 8 setups
4F11 is a highly potent neutralizing mAb against HMPV with in vitro and in vivo efficacy
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nf-core/crisprseq: a versatile pipeline for comprehensive analysis of CRISPR gene editing and screening assays.
PMID 41551929 · PMC12805889 · NAR genomics and bioinformatics · 2026 · 8 claims · 5 setups
nf-core/crisprseq is the first generic pipeline enabling analysis of the broad spectrum of CRISPR designs, from targeted gene edits (KO, KI, BE, PE) to large-scale functional screens
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Intracellular sorting and targeting of melanosomal membrane proteins: identification of signals for sorting of the human brown locus protein, gp75.
PMID 7642699 · PMC2199968 · The Journal of cell biology · 1995 · 7 claims · 7 setups
The 36-amino acid cytoplasmic tail of gp75 alone is sufficient to direct intracellular retention and targeting of chimeric CD8 proteins to the endosomal/lysosomal compartment in fibroblasts
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Biased exon/intron distribution of cryptic and de novo 3' splice sites.
PMID 16141195 · PMC1197134 · Nucleic acids research · 2005 · 7 claims · 5 setups
Cryptic 3'ss (from 3'YAG consensus mutations) are significantly more frequent in exons than in introns
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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups
50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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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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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
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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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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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An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.
PMID 18445289 · PMC2386494 · BMC bioinformatics · 2008 · 8 claims · 6 setups
Using RNAsubopt suboptimal solutions computed once for the wild-type sequence, specific multiple-point mutations likely to cause conformational rearrangement can be selected without brute-force enumeration.
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Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.
PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups
Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.
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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups
Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)
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Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.
PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups
A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family
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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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Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor.
PMID 19657311 · PMC2767399 · Pancreas · 2009 · 8 claims · 6 setups
A homozygous P86S mutation in GCGR is associated with hyperglucagonemia and α cell hyperplasia in the patient
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No direct effect of the -521 C/T polymorphism in the human dopamine D4 receptor gene promoter on transcriptional activity.
PMID 16723017 · PMC1481588 · BMC molecular biology · 2006 · 8 claims · 3 setups
The -521 C/T SNP has no significant effect on transcriptional activity of the DRD4 promoter in any of three neural cell lines tested
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A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.
PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups
The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls
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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.