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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mtDNA depletion confers specific gene expression profiles in human cells grown in culture and in xenograft.
PMID 18980691 · PMC2612029 · BMC genomics · 2008 · 8 claims · 8 setups
mtDNA depletion confers specific, shared gene expression profiles in A549 cells grown in culture and as xenografts
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Evolution of the NANOG pseudogene family in the human and chimpanzee genomes.
PMID 16469101 · PMC1457002 · BMC evolutionary biology · 2006 · 7 claims · 5 setups
The NANOG gene and all pseudogenes except NANOGP8 occupy orthologous chromosomal positions in the chimpanzee genome, indicating they originated before the human-chimpanzee divergence.
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RExPrimer: an integrated primer designing tool increases PCR effectiveness by avoiding 3' SNP-in-primer and mis-priming from structural variation.
PMID 19958502 · PMC2788391 · BMC genomics · 2009 · 7 claims · 4 setups
RExPrimer integrates local SNP, indel, pseudogene, and CNV/structural variation databases with the Primer3 core algorithm to avoid mis-priming and SNP-in-Primer effects.
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IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.
PMID 11056671 · PMC17813 · Arthritis research · 2000 · 8 claims · 5 setups
Somatically mutated IgVH genes with amino acid deletions and mixed IgV molecules were found in all three anatomical regions, suggesting a novel pathway for generating (auto)antibody specificities
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Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups
A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups
Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype
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RPS4Y gene family evolution in primates.
PMID 18477388 · PMC2397393 · BMC evolutionary biology · 2008 · 8 claims · 8 setups
The duplication event giving rise to RPS4Y2 occurred after the divergence of New World monkeys, about 35 million years ago.
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Rare-type mutations of MMAC1 tumor suppressor gene in human glioma cell lines and their tumors of origin.
PMID 10551321 · PMC5926156 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 6 setups
6 of 10 glioma cell lines examined showed MMAC1 mutations with presumed loss of heterozygosity (LOH)
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Contribution of retrotransposition to developmental disorders.
PMID 31604926 · PMC6789007 · Nature communications · 2019 · 8 claims · 6 setups
De novo retrotransposition events cause a small but detectable fraction of severe developmental disorders, with 4 of 9 de novo MEIs deemed likely causative (~0.04%).
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PMID 16625196 · PMC2610434 · Nature · 2006 · 8 claims · 7 setups
A finished sequence of human chromosome 17 (78,839,971 bases, ~2.8% of the euchromatic genome) was generated.
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.
PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups
Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes
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Comparative genomics search for losses of long-established genes on the human lineage.
PMID 18085818 · PMC2134963 · PLoS computational biology · 2007 · 8 claims · 6 setups
A novel comparative genomics method (TransMap-based syntenic mapping of gene structures between human, mouse, and dog) can detect losses of well-established single-copy genes without relying on sequence homology to a parental gene, distinguishing them from typical duplication- or retrotransposition-derived pseudogenes.
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Molecular correlates of host specialization in Staphylococcus aureus.
PMID 17971880 · PMC2040198 · PloS one · 2007 · 8 claims · 6 setups
Genome sequencing of ET3-1 revealed genomic elements not previously identified in S. aureus, including homologs of virulence factors from other Gram-positive pathogens
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Evolution and functional divergence of NLRP genes in mammalian reproductive systems.
PMID 19682372 · PMC2735741 · BMC evolutionary biology · 2009 · 7 claims · 7 setups
Major NLRP genes duplicated before the divergence of mammals, with lineage-specific duplications in primates (NLRP7, NLRP11) and rodents (Nlrp1, Nlrp4, Nlrp9)