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 novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups
The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)
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Has reproduction · 85
Systematic Analysis of Long Non-Coding RNA Genes in Nonalcoholic Fatty Liver Disease.
PMID 35893239 · PMC9332188 · Non-coding RNA · 2022 · 6 claims · 5 setups
Many lncRNAs, like protein-coding genes, are differentially expressed in NAFLD patients compared to healthy normal-weight and obese individuals.
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A spectrum of severe familial liver disorders associate with telomerase mutations.
PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups
Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.
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Has reproduction · 71
IL-6 trans-Signaling Regulates Neutrophilic Inflammation in Alcohol-Associated Hepatitis.
PMID 40562277 · PMC13168973 · The American journal of pathology · 2026 · 8 claims · 8 setups
Hepatic IL-6R expression progressively declines with increasing severity of alcohol-related liver disease, from normal to early ASH to nonsevere and severe AH
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Identification of novel markers for liver fibrosis in HIV/hepatitis C virus coinfected individuals using genomics-based approach.
PMID 18614866 · PMC2654216 · AIDS (London, England) · 2008 · 8 claims · 6 setups
An 8-marker model combining six serum markers, age, and ART experience predicts liver fibrosis stage with an AUROC of 0.904.
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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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Direct evidence of extensive diversity of HIV-1 in Kinshasa by 1960.
PMID 18833279 · PMC3682493 · Nature · 2008 · 7 claims · 8 setups
Recovered and characterized HIV-1 sequences (DRC60) from a 1960 Bouin's-fixed paraffin-embedded lymph node biopsy from Léopoldville, Belgian Congo
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Has reproduction · 58
Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.
PMID 38901430 · PMC11293351 · Cell reports. Medicine · 2024 · 8 claims · 8 setups
rs56258221 (BACH2/MIR4464) associates with a distinct peripheral blood T cell immunophenotype in people with PSC
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A proteomic strategy to identify novel serum biomarkers for liver cirrhosis and hepatocellular cancer in individuals with fatty liver disease.
PMID 19656391 · PMC2729079 · BMC cancer · 2009 · 8 claims · 4 setups
2D gel proteomic profiling of immunodepleted serum reveals protein spot patterns that differentiate pre-cirrhotic NAFLD, cirrhotic NAFLD, and cirrhotic NAFLD with HCC
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Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.
PMID 9823980 · PMC2063181 · British journal of cancer · 1998 · 7 claims · 5 setups
CYP2D6, CYP3A, and an N-acetyltransferase enzyme activity are functionally expressed in human prostate tissue
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Lost in the world of functional genomics, systems biology, and translational research: is there life after the Milstein award?
PMID 17681845 · PMC1994668 · Cytokine & growth factor reviews · 2007 · 8 claims · 8 setups
Genomic and proteomic approaches provide a comprehensive view of virus-host interactions and advance understanding of innate immunity and interferon/cytokine signaling
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Genetic distance and heterogenecity between quasispecies is a critical predictor to IFN response in Egyptian patients with HCV genotype-4.
PMID 17300723 · PMC1805740 · Virology journal · 2007 · 7 claims · 7 setups
Genetic distance and heterogeneity between HCV quasispecies is a critical predictor of IFN response in Egyptian genotype-4 patients
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups
A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).