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 genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling.
PMID 11435474 · PMC2193443 · The Journal of experimental medicine · 2001 · 8 claims · 7 setups
MD-2 is a required component of the LPS signaling complex; a point mutation in MD-2 abolishes LPS-induced signaling
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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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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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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups
A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI
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Has reproduction · 78
4-Methylcytosine DNA modification is critical for global epigenetic regulation and virulence in the human pathogen Leptospira interrogans.
PMID 33301041 · PMC7708080 · Nucleic acids research · 2020 · 7 claims · 8 setups
A 4mC orphan MTase (lomA) is present only in the pathogenic (P) clade of Leptospira and methylates CTAG motifs.
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Has reproduction
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups
HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition
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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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HIV-1 Nef binds the DOCK2-ELMO1 complex to activate rac and inhibit lymphocyte chemotaxis.
PMID 14737186 · PMC314466 · PLoS biology · 2004 · 8 claims · 8 setups
HIV-1 Nef binds the DOCK2-ELMO1 complex (which also contains Rac) in T cells
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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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Dissociation of the carbohydrate-binding and splicing activities of galectin-1.
PMID 18662664 · PMC2590671 · Archives of biochemistry and biophysics · 2008 · 7 claims · 7 setups
GST-Gal3 and GST-Gal1 pull down the general transcription factor TFII-I from HeLa nuclear extract, identified by mass spectrometry and confirmed by immunoblot
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Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.
PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups
CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA
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Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups
GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers