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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Genomic view of the evolution of the complement system.
PMID 16896831 · PMC2480602 · Immunogenetics · 2006 · 8 claims · 6 setups
Bony fish and higher vertebrates share practically the same set of complement genes, indicating most complement gene duplications occurred by the teleost/mammalian divergence (~500 MYA)
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The UCSC genome browser database: update 2007.
PMID 17142222 · PMC1669757 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser Database provides sequence and annotation data for 13 vertebrate and 19 invertebrate species as of September 2006.
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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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Rapid detection and curation of conserved DNA via enhanced-BLAT and EvoPrinterHD analysis.
PMID 18307801 · PMC2268679 · BMC genomics · 2008 · 8 claims · 8 setups
eBLAT detects up to 75% more conserved bases than original BLAT alignments, with the largest gains between evolutionarily distant orthologs
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Conserved elements with potential to form polymorphic G-quadruplex structures in the first intron of human genes.
PMID 18187510 · PMC2275096 · Nucleic acids research · 2008 · 8 claims · 6 setups
G-richness downstream of the TSS is strand-biased, concentrated on the nontemplate strand, with a peak at +200 to +300 bp
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Large-scale discovery and validation of functional elements in the human genome.
PMID 15774039 · PMC1088940 · Genome biology · 2005 · 8 claims · 8 setups
Genome-wide tiling microarray hybridization reveals large, diverse sets of transcripts, many of which lack existing gene annotations
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Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties.
PMID 15804357 · PMC1129089 · BMC genomics · 2005 · 8 claims · 6 setups
MagT1 is a novel mammalian Mg2+ transporter with channel-like properties, showing no amino acid sequence identity to other known transporters
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Application of ecotoxicogenomics for studying endocrine disruption in vertebrates and invertebrates.
PMID 16818254 · PMC1874166 · Environmental health perspectives · 2006 · 8 claims · 8 setups
Estrogen-responsive genes in mouse uterus are induced in a dose-dependent, ER-α-dependent manner, as shown by loss of induction in ER-α knockout mice.
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TreeFam: a curated database of phylogenetic trees of animal gene families.
PMID 16381935 · PMC1347480 · Nucleic acids research · 2006 · 7 claims · 6 setups
Tree-based inference of orthologs and paralogs is more robust than BLAST-based methods because evolutionary rates (and thus pairwise BLAST scores) vary across gene family members
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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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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups
Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.
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Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication.
PMID 18811940 · PMC2564943 · BMC evolutionary biology · 2008 · 8 claims · 8 setups
Teleosts, unlike tetrapods, possess two closely linked paralogous AQP1 genes, aqp1a and aqp1b (formerly AQP1o), arising from a teleost-specific duplication of an ancestral AQP1 gene
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant
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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.
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N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.
PMID 18402670 · PMC2330028 · BMC medical genetics · 2008 · 7 claims · 6 setups
NAT8 is a novel positional candidate gene for blood pressure and renal function based on its chromosomal location within a BP linkage region and its expression in embryonic/adult kidney and liver
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Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups
Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband
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A rigorous method for multigenic families' functional annotation: the peptidyl arginine deiminase (PADs) proteins family example.
PMID 16271148 · PMC1310624 · BMC genomics · 2005 · 8 claims · 5 setups
Integrating EST-based expression data with phylogenetic analysis is a valid new method for functionally annotating multigenic protein families
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups
SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.