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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Comparative genomics of cyclin-dependent kinases suggest co-evolution of the RNAP II C-terminal domain and CTD-directed CDKs.
PMID 15380029 · PMC521075 · BMC genomics · 2004 · 8 claims · 6 setups
Cell-cycle related CDKs (orthologs of CDK1-6) are present in all sampled eukaryotic organisms, including the most ancestral protists.
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A computational screen for type I polyketide synthases in metagenomics shotgun data.
PMID 18953415 · PMC2568958 · PloS one · 2008 · 8 claims · 6 setups
Combining HMM domain searches with maximum-likelihood phylogenetic trees can discriminate true PKS I sequences from evolutionarily related but functionally different enzymes (e.g., FAS I) in metagenomic data.
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Spinocerebellar ataxia type 23: a genetic update.
PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups
The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.
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Has reproduction · 78
Identification of the Wheat (Triticum aestivum) IQD Gene Family and an Expression Analysis of Candidate Genes Associated with Seed Dormancy and Germination.
PMID 35456910 · PMC9025732 · International journal of molecular sciences · 2022 · 8 claims · 8 setups
73 IQD gene family members (TaIQD1-73) were identified in the wheat genome and phylogenetically divided into six major groups.
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
PMID 18614783 · PMC2518320 · The New England journal of medicine · 2008 · 7 claims · 5 setups
A heterozygous frameshift mutation in NPPA (encoding atrial natriuretic peptide, ANP) causes familial atrial fibrillation
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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups
A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.
PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups
Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups
40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD
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Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.
PMID 17327828 · PMC2633468 · Molecular vision · 2007 · 6 claims · 5 setups
AD non-syndromic high-grade myopia in the Hutterite family MYO-101 shows significant linkage to a locus on chromosome 10q21.1
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Comparison of complete nuclear receptor sets from the human, Caenorhabditis elegans and Drosophila genomes.
PMID 11532213 · PMC55326 · Genome biology · 2001 · 7 claims · 5 setups
The human genome contains fewer than 50 functional nuclear receptors, far fewer than C. elegans and about twice as many as Drosophila
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Identifying related L1 retrotransposons by analyzing 3' transduced sequences.
PMID 12734010 · PMC156586 · Genome biology · 2003 · 8 claims · 6 setups
L1 elements with transduction-derived 3' sequence (L1-TDs) can be computationally identified using RepeatMasker/TSDfinder and grouped into families sharing a common progenitor via BLAST comparison of downstream sequences.
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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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How accurately is ncRNA aligned within whole-genome multiple alignments?
PMID 17963514 · PMC2206062 · BMC bioinformatics · 2007 · 7 claims · 4 setups
MULTIZ does a fairly accurate job of aligning ncRNA regions across 17 vertebrate genomes, but better alignments exist in some regions.
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Molecular characterization of retinitis pigmentosa in Saudi Arabia.
PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups
The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.
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DAVID Knowledgebase: a gene-centered database integrating heterogeneous gene annotation resources to facilitate high-throughput gene functional analysis.
PMID 17980028 · PMC2186358 · BMC bioinformatics · 2007 · 7 claims · 3 setups
The DAVID Gene Concept, a single-linkage algorithm, merges gene clusters from Entrez Gene, UniRef100, and PIR-NREF100 that share protein IDs and species into unified DAVID gene clusters, improving cross-referencing between NCBI and UniProt systems
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Analysis of the human Alu Ye lineage.
PMID 15725352 · PMC554112 · BMC evolutionary biology · 2005 · 8 claims · 6 setups
Two new Alu subfamilies, Ye4 and Ye6, were discovered, complementing the previously described Ye5 subfamily.
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The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups
A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu
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A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.
PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups
Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.