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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CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.
PMID 15507145 · PMC526769 · BMC medical genetics · 2004 · 8 claims · 7 setups
PCR amplification and sequencing of CLC-2 revealed 1 SNP in the promoter, 4 SNPs in intron 1, and none in exon 20
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Has reproduction · 83
Cold-Induced Lipoprotein Clearance in Cyp7b1-Deficient Mice.
PMID 35478959 · PMC9038073 · Frontiers in cell and developmental biology · 2022 · 7 claims · 8 setups
Cyp7b1 deficiency blunts cold-induced hepatic Cyp7b1 upregulation and plasma bile acid synthesis
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Novel mutation of the PRNP gene of a clinical CJD case.
PMID 17129366 · PMC1693557 · BMC infectious diseases · 2006 · 7 claims · 5 setups
A novel PRNP point mutation at codon 193 (ACC→ATC, T193I, C578T transition) was identified in a CJD patient, heterozygous for threonine/isoleucine
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Has reproduction
PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles.
PMID 30904610 · PMC6624118 · Biochimica et biophysica acta. Molecular basis of disease · 2019 · 8 claims · 8 setups
PID1 serves as an insulin-regulated retention adaptor protein controlling co-translocation of LRP1 and GLUT4 to the adipocyte plasma membrane
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Has reproduction
TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality.
PMID 33516944 · PMC7903014 · Molecular metabolism · 2021 · 7 claims · 8 setups
BAT whitening at thermoneutrality is associated with TFEB-dependent mitochondrial degradation.
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Activation-induced cytidine deaminase acts as a mutator in BCR-ABL1-transformed acute lymphoblastic leukemia cells.
PMID 17485517 · PMC2118573 · The Journal of experimental medicine · 2007 · 8 claims · 8 setups
AID mRNA is aberrantly expressed in Ph+ ALL but largely absent in Ph- ALL
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Dicer, Drosha, and outcomes in patients with ovarian cancer.
PMID 19092150 · PMC2710981 · The New England journal of medicine · 2008 · 8 claims · 6 setups
Dicer and Drosha mRNA levels correlate with corresponding protein levels and are decreased in 60% and 51% of ovarian-cancer specimens, respectively
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A combination of genomic approaches reveals the role of FOXO1a in regulating an oxidative stress response pathway.
PMID 18301748 · PMC2244703 · PloS one · 2008 · 8 claims · 7 setups
FOXO1a mRNA and protein expression are elevated in human liver compared to chimpanzee liver
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Examination of FMR1 transcript and protein levels among 74 premutation carriers.
PMID 19927162 · PMC4122982 · Journal of human genetics · 2010 · 7 claims · 4 setups
FMR1 premutation carriers (55-199 CGG repeats) show increased FMR1 transcript levels alongside decreased FMRP levels compared to normal individuals.
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Role of p16/MTS1, cyclin D1 and RB in primary oral cancer and oral cancer cell lines.
PMID 10389982 · PMC2363027 · British journal of cancer · 1999 · 7 claims · 5 setups
p16/MTS1 mutations and loss of expression are very common in OSCC cell lines and less frequent in primary OSCC tumours
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Alteration of the copy number and deletion of mitochondrial DNA in human hepatocellular carcinoma.
PMID 15150555 · PMC2409531 · British journal of cancer · 2004 · 8 claims · 5 setups
mtDNA copy number and the content of mitochondrial respiratory proteins are reduced in HCC tumor tissue compared with corresponding non-tumorous liver.
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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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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Has reproduction
Genetic Dissection of Tissue-Specific Apolipoprotein E Function for Hypercholesterolemia and Diet-Induced Obesity.
PMID 26695075 · PMC4687855 · PloS one · 2015 · 8 claims · 8 setups
Hepatocyte apoE is required for normal VLDL production and protects against diet-induced dyslipidemia
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Mitotic checkpoint protein hsMAD2 as a marker predicting liver metastasis of human gastric cancers.
PMID 11572763 · PMC5926839 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 4 setups
No mutations were found in the coding sequence of the hsMAD2 gene in 32 primary gastric cancers
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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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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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The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
PMID 12381271 · PMC134458 · BMC genetics · 2002 · 7 claims · 8 setups
UNC93A maps within the minimal region of allele loss on 6q27 between D6S264 and D6S149, centromeric to D6S149
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Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters.
PMID 12237774 · PMC2364248 · British journal of cancer · 2002 · 8 claims · 8 setups
RhoA, RhoB, Rac1 and Cdc42 protein levels are markedly overexpressed in breast tumours compared to matched normal tissue from the same patient
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Inactivation of O6-methylguanine-DNA methyltransferase by promoter CpG island hypermethylation in gastric cancers.
PMID 12085181 · PMC2375420 · British journal of cancer · 2002 · 6 claims · 8 setups
Loss of MGMT expression in gastric carcinomas frequently results from promoter CpG island hypermethylation.