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 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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Mutation in mitochondrial complex I ND6 subunit is associated with defective response to hypoxia in human glioma cells.
PMID 15248896 · PMC481082 · Molecular cancer · 2004 · 8 claims · 8 setups
An unreported T14634C mutation in the mtDNA-encoded ND6 subunit of Complex I is present in the hypoxia-sensitive glioma cell line M010b but not in hypoxia-tolerant lines.
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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Molecular epidemiology of DFNB1 deafness in France.
PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups
35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations
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Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.
PMID 16277675 · PMC1297570 · Arthritis research & therapy · 2005 · 8 claims · 6 setups
The TNF-RII T676G polymorphism is associated with circulating levels of sTNF-RI and sTNF-RII in RA, with a trend TT > TG > GG
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes.
PMID 15809229 · PMC1074396 · Nucleic acids research · 2005 · 8 claims · 6 setups
Comparative gene finding (SGP2) between human and chicken, followed by RT-PCR verification, adds at most ~0.2% new genes to the multi-exonic human gene catalog
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups
Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)
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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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Dog Y chromosomal DNA sequence: identification, sequencing and SNP discovery.
PMID 17026745 · PMC1630699 · BMC genetics · 2006 · 8 claims · 6 setups
Identified 32 male-specific Y-chromosome sequences totaling 24159 bp via combined Blast (human Y chromosome match, absence from female dog genome) and PCR male-specificity screening of a male poodle shotgun genome.
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Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.
PMID 16891820 · PMC2729898 · Journal of Korean medical science · 2006 · 7 claims · 7 setups
All three unrelated Korean MM patients carried compound heterozygous mutations in the DYSF gene.
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A high-throughput method for quantifying alleles and haplotypes of the malaria vaccine candidate Plasmodium falciparum merozoite surface protein-1 19 kDa.
PMID 16626494 · PMC1459863 · Malaria journal · 2006 · 8 claims · 5 setups
Pyrosequencing, after adjustment to a standard curve, provides accurate and precise estimates of allele frequencies in mixed MSP-1_19 infections
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Evolution of the NANOG pseudogene family in the human and chimpanzee genomes.
PMID 16469101 · PMC1457002 · BMC evolutionary biology · 2006 · 7 claims · 5 setups
The NANOG gene and all pseudogenes except NANOGP8 occupy orthologous chromosomal positions in the chimpanzee genome, indicating they originated before the human-chimpanzee divergence.
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Target cell APOBEC3C can induce limited G-to-A mutation in HIV-1.
PMID 17967058 · PMC2042017 · PLoS pathogens · 2007 · 8 claims · 8 setups
APOBEC3C is necessary and sufficient to induce G-to-A mutation in some HIV-1 strains despite Vif expression
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Discovering multiple transcripts of human hepatocytes using massively parallel signature sequencing (MPSS).
PMID 17601345 · PMC1929076 · BMC genomics · 2007 · 8 claims · 8 setups
MPSS detected 10,279 UniGene clusters, representing 7,475 known genes, in human hepatocytes
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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups
Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2
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A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.
PMID 19083245 · PMC2662477 · Blood cells, molecules & diseases · 2009 · 7 claims · 4 setups
A new CYP2C9 coding polymorphism, G1078A (D360N) in exon 7, was identified in an African American patient who experienced major gastrointestinal hemorrhage on warfarin therapy
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Mutations in the focal adhesion targeting region of deleted in liver cancer-1 attenuate their expression and function.
PMID 18829524 · PMC2597479 · Cancer research · 2008 · 8 claims · 6 setups
The DLC-1 fragment spanning residues 201-500 is sufficient for focal adhesion targeting (FAT region)
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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
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Biologic diversity of polyomavirus BK genomic sequences: Implications for molecular diagnostic laboratories.
PMID 18712842 · PMC2906129 · Journal of medical virology · 2008 · 8 claims · 5 setups
Coverage of naturally occurring BKV strains varies substantially among current PCR diagnostic assays due to primer/probe mismatches
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CNGA3 mutations in two United Arab Emirates families with achromatopsia.
PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups
Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val