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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Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.
PMID 18424447 · PMC2465800 · Human molecular genetics · 2008 · 6 claims · 8 setups
Nonsense-mediated mRNA decay (NMD) degrades mutant SOD1 mRNA carrying a PTC in non-terminal exons (1-4), explaining why ALS-associated PTC mutations are found only in exon 5
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A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
PMID 20003495 · PMC2802351 · Orphanet journal of rare diseases · 2009 · 8 claims · 7 setups
A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I
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Has reproduction
Repression of Divergent Noncoding Transcription by a Sequence-Specific Transcription Factor.
PMID 30576656 · PMC6310685 · Molecular cell · 2018 · 8 claims · 8 setups
Depletion of Rap1 induces divergent noncoding transcription at a large fraction of Rap1-regulated gene promoters
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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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Rare-type mutations of MMAC1 tumor suppressor gene in human glioma cell lines and their tumors of origin.
PMID 10551321 · PMC5926156 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 6 setups
6 of 10 glioma cell lines examined showed MMAC1 mutations with presumed loss of heterozygosity (LOH)
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Has reproduction · 57
Genome-wide screening of potential RNase Y-processed mRNAs in the M49 serotype Streptococcus pyogenes NZ131.
PMID 29900693 · PMC6460267 · MicrobiologyOpen · 2019 · 8 claims · 7 setups
RNase Y selectively processes GAS mRNA, but its overall impact is confined to a limited set of virulence factor transcripts.
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Has reproduction · 50
Genome-wide identification of Hfq-regulated small RNAs in the fire blight pathogen Erwinia amylovora discovered small RNAs with virulence regulatory function.
PMID 24885615 · PMC4070566 · BMC genomics · 2014 · 8 claims · 8 setups
A total of 40 candidate Hfq-dependent sRNAs were identified genome-wide in E. amylovora by combining RNA-seq with a Rho-independent terminator search.
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A gene encoding antigenic peptides of human squamous cell carcinoma recognized by cytotoxic T lymphocytes.
PMID 9449708 · PMC2212124 · The Journal of experimental medicine · 1998 · 8 claims · 8 setups
A gene, SART-1, encoding antigenic peptides recognized by HLA-A2601-restricted CTLs was identified from human squamous cell carcinoma cells.
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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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Use of modified U1 snRNAs to inhibit HIV-1 replication.
PMID 17158512 · PMC1802557 · Nucleic acids research · 2007 · 7 claims · 6 setups
U1 snRNAs complementary to 5 of 15 targeted conserved regions in the HIV-1 terminal exon significantly suppress HIV-1 protein expression and viral replication, coincident with loss of viral RNA
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Has reproduction · 50
Grad-seq identifies KhpB as a global RNA-binding protein in Clostridioides difficile that regulates toxin production.
PMID 37223250 · PMC10117727 · microLife · 2021 · 8 claims · 9 setups
Grad-seq resolves in-gradient sedimentation profiles for ~87-88% of annotated C. difficile transcripts and ~50% of annotated proteins, providing a comprehensive RNA-protein complexome resource
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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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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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Meeting highlights: beyond the genome 2000: the 18th International Congress of Biochemistry and Molecular Biology.
PMID 11119309 · PMC2448388 · Yeast (Chichester, England) · 2000 · 8 claims · 8 setups
Celera sequenced a human genome to ~45-fold coverage from one donor and used high-quality sequence stretches to define ~6 million SNPs
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Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4).
PMID 9989976 · PMC2192941 · The Journal of experimental medicine · 1999 · 8 claims · 8 setups
The Lps locus was fine-mapped to a 0.9-cM interval spanning a 1.7-Mb genomic contig on mouse chromosome 4.
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The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups
A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu