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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RiboSubstrates: a web application addressing the cleavage specificities of ribozymes in designated genomes.
PMID 17076887 · PMC1634876 · BMC bioinformatics · 2006 · 7 claims · 4 setups
RiboSubstrates is a web-based Perl application that scans a cDNA database for all potential substrates of a given ribozyme, including perfect matches, Wobble base-pair matches, and mismatch-containing matches.
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A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.
PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups
Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression
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Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups
Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.
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Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.
PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups
Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb
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Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.
PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups
Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex
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ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.
PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups
Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH
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The impact of new research technologies on our understanding of environmental causes of disease: the concept of clinical vulnerability.
PMID 19948053 · PMC2793242 · Environmental health : a global access science source · 2009 · 8 claims · 8 setups
GWAS-identified genetic variants confer only modest relative risks (1.15-1.5), comparable in magnitude to weak/contested environmental exposures
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Toxoplasma: the next 100years.
PMID 18672085 · PMC2596634 · Microbes and infection · 2008 · 8 claims · 8 setups
Micronemes, rhoptries, and dense granules are specialized secretory organelles that mediate T. gondii host cell invasion and remodeling
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Asthma investigators begin to reap the fruits of genomics.
PMID 14611649 · PMC329104 · Genome biology · 2003 · 7 claims · 8 setups
Microarray profiling of animal models of allergic asthma can identify novel differentially expressed candidate genes involved in inflammation and airway remodeling.
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Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?
PMID 16983454 · PMC6275806 · Cellular & molecular biology letters · 2006 · 7 claims · 7 setups
Human FKBP6 expression is restricted to the testis among 15 adult tissues examined
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A novel GJA8 mutation causing a recessive triangular cataract.
PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups
A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.
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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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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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Comparative analysis of cancer genes in the human and chimpanzee genomes.
PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups
All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).
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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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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.
PMID 15175115 · PMC425576 · BMC genetics · 2004 · 6 claims · 3 setups
The SLC22A1LS gene is paternally imprinted (i.e., only the maternal allele is expressed).
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Molecular epidemiology of measles viruses in the United States, 1997-2001.
PMID 12194764 · PMC2732556 · Emerging infectious diseases · 2002 · 8 claims · 6 setups
The diversity of measles virus genotypes observed in the US from 1997–2001 reflects multiple imported sources of virus, indicating no strain of measles is endemic in the United States.
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.