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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Detection of venous thromboembolism by proteomic serum biomarkers.
PMID 17579716 · PMC1891085 · PloS one · 2007 · 5 claims · 8 setups
A neural network-based classifier built from direct MALDI-TOF MS serum protein expression profiles can diagnose VTE with sensitivity/specificity that exceeds D-dimer assays
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Fucosylated glycoproteins as markers of liver disease.
PMID 19126969 · PMC3827789 · Disease markers · 2008 · 8 claims · 6 setups
Core alpha 1,6-linked fucosylation of AFP (AFP-L3) is increased in HCC and is a more specific marker of HCC than total AFP
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Associations between hepatitis B virus genotype and mutants and the risk of hepatocellular carcinoma.
PMID 18695135 · PMC2518166 · Journal of the National Cancer Institute · 2008 · 8 claims · 7 setups
HBV genotype C is an independent risk factor for HCC compared with genotype B
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Hepatitis B virus genotypes/subgenotypes in voluntary blood donors in Makassar, South Sulawesi, Indonesia.
PMID 19691824 · PMC2732614 · Virology journal · 2009 · 7 claims · 5 setups
HBV/B and HBV/C are the dominant genotypes among HBsAg-positive blood donors in Makassar
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Has reproduction
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
PMID 29734338 · PMC5937737 · PLoS genetics · 2018 · 8 claims · 8 setups
PAK1 is a novel direct effector of RIT1
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Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.
PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups
The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.
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Overlapping gene mutations of hepatitis B virus in a chronic hepatitis B patient with hepatitis B surface antigen loss during lamivudine therapy.
PMID 15953865 · PMC2782199 · Journal of Korean medical science · 2005 · 7 claims · 5 setups
Serum HBsAg became negative after 36 months of lamivudine therapy while HBeAg and HBV DNA remained positive
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.
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Genetic divergence of hepatitis C virus: the role of HIV-related immunosuppression.
PMID 18769357 · PMC3071283 · Journal of acquired immune deficiency syndromes (1999) · 2008 · 7 claims · 6 setups
HIV coinfection is associated with ~0.5 log10 higher HCV RNA levels, suggesting increased HCV replication
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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups
A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.
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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups
DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing
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From genomes to systems.
PMID 15535877 · PMC545775 · Genome biology · 2004 · 8 claims · 8 setups
Biological networks (protein-gene interactions in the genome, protein-protein interactions in the proteome, biochemical reactions in the metabolome) are scale-free rather than random
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Detection of YMDD motif mutants by oligonucleotide chips in lamivudine-untreated patients with chronic hepatitis B virus infection.
PMID 15308845 · PMC2816888 · Journal of Korean medical science · 2004 · 6 claims · 5 setups
An oligonucleotide chip was developed using probes for wild-type YMDD, M552V, and three M552I probe variants to detect HBV polymerase YMDD motif mutations
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Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.
PMID 16778407 · PMC2729969 · Journal of Korean medical science · 2006 · 7 claims · 8 setups
The patient was diagnosed with cystic fibrosis based on elevated sweat chloride concentration and identification of two CFTR mutations.
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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).
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Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.
PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups
The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers
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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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Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups
The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)
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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