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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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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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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Genomic studies of mood disorders -- the brain as a muscle?
PMID 15833130 · PMC1088952 · Genome biology · 2005 · 7 claims · 5 setups
FGF family members and receptors (notably FGF1, FGF2, FGFR2, FGFR3) are down-regulated in postmortem prefrontal cortex of subjects with major depressive disorder but not in bipolar or control subjects.
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups
Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)
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Multiple epiphyseal dysplasia.
PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups
An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members
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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.
PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups
Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population
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OPTIC: orthologous and paralogous transcripts in clades.
PMID 17933761 · PMC2238935 · Nucleic acids research · 2008 · 6 claims · 7 setups
OPTIC is a database providing gene predictions and orthology assignments for three clades: amniotes (human, dog, mouse, opossum, platypus, chicken), 12 Drosophila species, and 4 Caenorhabditis nematodes.
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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups
HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH
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Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.
PMID 18728755 · PMC2519029 · Molecular vision · 2008 · 8 claims · 5 setups
Male patients exhibit typical bilateral foveal retinoschisis in two retinal layers detected by OCT
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BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
PMID 18704680 · PMC2775077 · Breast cancer research and treatment · 2009 · 8 claims · 8 setups
The Breast Cancer Family Registry is an open resource for collaborative interdisciplinary and translational studies of the genetic epidemiology of breast cancer.
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Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.
PMID 19901218 · PMC3514888 · Archives of ophthalmology (Chicago, Ill. : 1960) · 2009 · 8 claims · 4 setups
No COL2A1 mutations were found, making ocular Stickler syndrome an unlikely diagnosis for this family
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Ancient adaptive evolution of the primate antiviral DNA-editing enzyme APOBEC3G.
PMID 15269786 · PMC479043 · PLoS biology · 2004 · 7 claims · 6 setups
APOBEC3G has been under strong, recurrent positive selection throughout primate evolution (~33 million years)
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Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.
PMID 16277682 · PMC1297578 · Arthritis research & therapy · 2005 · 6 claims · 4 setups
The M404V mutation in p62/SQSTM1 exon 8 segregates with the polyostotic form of PDB in the F01 Italian family
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Identification of the proliferation/differentiation switch in the cellular network of multicellular organisms.
PMID 17166053 · PMC1664705 · PLoS computational biology · 2006 · 8 claims · 8 setups
Integrating interactome and transcriptome data reveals a pair of transcriptionally anticorrelated network modules (P and D) each comprising hundreds of genes, present across individuals and species.
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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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Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.
PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups
A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals
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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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More breast cancer genes?
PMID 11305950 · PMC138680 · Breast cancer research : BCR · 2001 · 8 claims · 7 setups
A new high-risk breast cancer gene termed BRCAX may exist on chromosome 13q, identified via CGH and linkage analysis in Nordic families
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Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups
Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.
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A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
PMID 19668596 · PMC2722711 · Molecular vision · 2009 · 8 claims · 6 setups
A novel heterozygous CRYGD mutation c.43C>A (R15S) causes congenital coralliform cataract in Family A