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 organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.
PMID 11454237 · PMC34549 · BMC genetics · 2001 · 6 claims · 4 setups
The desmuslin (DMN) gene was localized to chromosome 15q26.3 via electronic screening of the human genome database, and its 5-exon genomic organization was determined.
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A genome-wide survey demonstrates widespread non-linear mRNA in expressed sequences from multiple species.
PMID 16237125 · PMC1258171 · Nucleic acids research · 2005 · 8 claims · 6 setups
A genome-wide computational survey identifies 245 genes in mammals (264 across six species) that produce RREO events in expressed sequences
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Human SNPs resulting in premature stop codons and protein truncation.
PMID 16595072 · PMC3500177 · Human genomics · 2006 · 8 claims · 6 setups
Genome-wide screening of dbSNP identified 28 validated X-SNPs from 28 genes with known minor allele frequencies.
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Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome.
PMID 17517773 · PMC1920257 · Nucleic acids research · 2007 · 8 claims · 5 setups
An endonuclease-independent pathway (NCLI) for L1 insertion has been active in recent human genome evolution
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Genome-wide analysis of the human Alu Yb-lineage.
PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups
1,733 Alu Yb-lineage elements are present on human autosomal chromosomes
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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1
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Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups
Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups
DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients
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Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.
PMID 11870543 · PMC2375272 · British journal of cancer · 2002 · 8 claims · 5 setups
DFFA is localized within the 1p36.2-3 smallest region of overlap (SRO) of deletions defined in Scandinavian neuroblastoma tumours, distal to marker D1S244
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Comparative genomics and experimental promoter analysis reveal functional liver-specific elements in mammalian hepatic lipase genes.
PMID 17428321 · PMC1853088 · BMC genomics · 2007 · 8 claims · 7 setups
Cis-regulatory elements responsible for liver-specific HL expression are conserved among mammalian HL genes
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Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties.
PMID 18673550 · PMC2533329 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
The human TRIM family is split into two groups (group 1 and group 2) that differ in domain structure, genomic organization, and evolutionary properties.
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Uprobe 2008: an online resource for universal overgo hybridization-based probe retrieval and design.
PMID 18515352 · PMC2447791 · Nucleic acids research · 2008 · 7 claims · 7 setups
Uprobe provides new predesigned whole-genome universal overgo probe sets for screening marsupial, rodent, and carnivore BAC libraries.
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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Has reproduction · 82
Whole-genome analysis of a multidrug-resistant Klebsiella michiganensis environmental isolate from an orthopedic ward in Mwanza, Tanzania reveals IncF-family plasmid replicon signatures associated with resistance determinants.
PMID 41957580 · PMC13173886 · BMC genomics · 2026 · 6 claims · 8 setups
Genome-based taxonomy (GTDB-Tk and ANI) reclassified the isolate A55848, phenotypically identified as K. oxytoca, as Klebsiella michiganensis
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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups
MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors
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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups
Mutations in USH2A are responsible for most cases of USH2
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Short-term genome evolution of Listeria monocytogenes in a non-controlled environment.
PMID 19014550 · PMC2642827 · BMC genomics · 2008 · 6 claims · 6 setups
The 2000 listeriosis outbreak was likely caused by an L. monocytogenes strain that persisted in the food processing facility for at least 12 years since 1988
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Has reproduction · 79
Detection of Virus-Related Sequences Associated With Potential Etiologies of Hepatitis in Liver Tissue Samples From Rats, Mice, Shrews, and Bats.
PMID 34177835 · PMC8221242 · Frontiers in microbiology · 2021 · 8 claims · 6 setups
Viral metagenomics of liver tissue from rats, mice, shrews, and bats revealed a diverse set of sequences related to herpesviruses, orthomyxoviruses, anelloviruses, hepeviruses, hepadnaviruses, flaviviruses, parvoviruses, and picornaviruses
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Genetic variation of SARS coronavirus in Beijing Hospital.
PMID 15200810 · PMC3323231 · Emerging infectious diseases · 2004 · 8 claims · 4 setups
113 sequence variations at 9 recurrent variant sites were identified in 29 full-length S-gene sequences compared to the BJ01 reference strain
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI