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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Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.
PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups
Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.
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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups
Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy
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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups
50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.
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Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.
PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups
Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.
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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Increased constraints on MC4R during primate and human evolution.
PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups
There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.
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In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 16995940 · PMC1590028 · BMC genomics · 2006 · 8 claims · 6 setups
In silico ESE-prediction algorithms (ESEfinder, RescueESE, PESX) do not reliably predict actual in vivo splicing behavior of missense mutations
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Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.
PMID 1694220 · PMC2188166 · The Journal of experimental medicine · 1990 · 8 claims · 8 setups
Patient 14 (moderate phenotype) carries a C-to-T substitution at nucleotide 517 of the beta subunit cDNA, changing amino acid 149 from leucine to proline
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Molecular cloning, genomic characterization and over-expression of a novel gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR and macaque testis.
PMID 12908878 · PMC194569 · BMC genomics · 2003 · 8 claims · 7 setups
XRRA1 is a novel gene down-regulated ~2-fold in XR-resistant HCT116 Clone2_XRR relative to HCT116 Clone10, identified via cDNA microarray
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Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass.
PMID 18443592 · PMC2742198 · Nature genetics · 2008 · 8 claims · 8 setups
Osteoglycin (Ogn) is a major candidate regulator of rat LVM, with increased Ogn protein expression associated with elevated LVM