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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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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Proteomic analysis of human aqueous humor using multidimensional protein identification technology.
PMID 20019884 · PMC2793904 · Molecular vision · 2009 · 8 claims · 4 setups
Albumin/IgG depletion combined with MudPIT (2D-LC-MS/MS) enables high-confidence, extensive characterization of the human AH proteome
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Investigating the genetic association between ERAP1 and ankylosing spondylitis.
PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups
The genetic association between ERAP1 and AS is confirmed in an independent replication cohort
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Pathway analysis of kidney cancer using proteomics and metabolic profiling.
PMID 17123452 · PMC1665458 · Molecular cancer · 2006 · 8 claims · 8 setups
31 proteins are differentially expressed with high statistical significance (p<0.05) in ccRCC tumor tissue compared to adjacent non-malignant kidney tissue
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Insights into the coupling of duplication events and macroevolution from an age profile of animal transmembrane gene families.
PMID 16895434 · PMC1534073 · PLoS computational biology · 2006 · 8 claims · 7 setups
The density of transmembrane gene duplicates positively correlates with the estimated maximum number of cell types of common ancestors
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Comparative genomics of Lbx loci reveals conservation of identical Lbx ohnologs in bony vertebrates.
PMID 18541024 · PMC2446394 · BMC evolutionary biology · 2008 · 8 claims · 3 setups
Extant bony vertebrates (osteichthyans) retain only Lbx1- and Lbx2-type genes; no distinct Lbx3/Lbx4 proteins exist.
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Coxiella burnetii genotyping.
PMID 16102309 · PMC3320512 · Emerging infectious diseases · 2005 · 8 claims · 5 setups
Multispacer sequence typing (MST) is the first reliable method for typing Coxiella burnetii isolates
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Bias of selection on human copy-number variants.
PMID 16482228 · PMC1366494 · PLoS genetics · 2006 · 8 claims · 8 setups
Human CNVs are significantly overrepresented near telomeres and centromeres and enriched in simple tandem repeats relative to the genome as a whole
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A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.
PMID 18925953 · PMC2580767 · BMC genetics · 2008 · 8 claims · 6 setups
A 460–465 bp insertion is present in intron 4 of the Amel-Y locus in most Cetartiodactyla lineages (cetaceans and ruminants) but absent in pig
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The repertoire of G protein-coupled receptors in the sea squirt Ciona intestinalis.
PMID 18452600 · PMC2396169 · BMC evolutionary biology · 2008 · 8 claims · 5 setups
169 gene products in the Ciona genome were identified as putative GPCRs
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Identification of multiple independent horizontal gene transfers into poxviruses using a comparative genomics approach.
PMID 18304319 · PMC2268676 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
Comparative synteny conservation around a horizontally transferred gene (HTgene) can distinguish single versus multiple independent HGT events even without a robust phylogenetic tree.
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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
PMID 19092437 · PMC2810953 · Genetics in medicine : official journal of the American College of Medical Genetics · 2008 · 8 claims · 5 setups
CFTR-related disorders form a disease spectrum ranging from isolated congenital absence of the vas deferens (CAVD) to multiorgan classic cystic fibrosis (CF).
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Gene module regulation in dilated cardiomyopathy and the role of Na/K-ATPase.
PMID 35901050 · PMC9333241 · PloS one · 2022 · 5 claims · 8 setups
Several co-expressed gene modules are significantly associated with left ventricle ejection fraction (LVEF) and the DCM phenotype, enriched in fibrosis-related, small molecule transporting-related, and immune response-related pathways.
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Phylogenomic approaches to common problems encountered in the analysis of low copy repeats: the sulfotransferase 1A gene family example.
PMID 15752422 · PMC555591 · BMC evolutionary biology · 2005 · 8 claims · 8 setups
A previously unidentified fourth human SULT1A gene (SULT1A4) exists on chromosome 16 and is transcriptionally active
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Eighth major clade for hepatitis delta virus.
PMID 17073101 · PMC3294742 · Emerging infectious diseases · 2006 · 7 claims · 7 setups
Three HDV isolates (dFr644, dFr2072, dFr2736) form a monophyletic group distinct from HDV-1 through HDV-7, constituting a new eighth major clade (HDV-8) of the Deltavirus genus.
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Human PAML browser: a database of positive selection on human genes using phylogenetic methods.
PMID 17962310 · PMC2238824 · Nucleic acids research · 2008 · 8 claims · 5 setups
The Human PAML Browser is a web-accessible database of codeml-based positive selection test results for 13,721 human genes with orthologs in UCSC multispecies alignments.
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Tubulin proteomics: towards breaking the code.
PMID 18840397 · PMC4039029 · Analytical biochemistry · 2009 · 8 claims · 8 setups
Tubulin isotype and posttranslational-modification diversity constitutes a 'tubulin code' that is read by microtubule-associated proteins and translates into specific in vivo functions
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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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Potential biomarkers of human salivary function: a modified proteomic approach.
PMID 18804197 · PMC2633945 · Archives of oral biology · 2009 · 6 claims · 6 setups
Two SDS-PAGE bands, identified by MS-MS as statherin and a truncated (N-terminal 8-aa-missing) cystatin S, are the strongest and most consistent predictors of HAA/LAA group membership and clinical/microbiological outcomes
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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