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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Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations.
PMID 15984912 · PMC1166350 · PLoS biology · 2005 · 8 claims · 6 setups
Most mtDNA lineages in Taiwanese aboriginal populations are distinct from those in China and the Taiwan Han population, consistent with descent from the island's initial late Pleistocene settlers
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Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4).
PMID 9989976 · PMC2192941 · The Journal of experimental medicine · 1999 · 8 claims · 8 setups
The Lps locus was fine-mapped to a 0.9-cM interval spanning a 1.7-Mb genomic contig on mouse chromosome 4.
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Comparative genomic analysis of the gut bacterium Bifidobacterium longum reveals loci susceptible to deletion during pure culture growth.
PMID 18505588 · PMC2430713 · BMC genomics · 2008 · 8 claims · 8 setups
Comparative genomics of B. longum DJO10A (minimally cultured) and NCC2705 (culture collection strain) reveals 17 unique DNA regions in DJO10A and 6 in NCC2705 despite otherwise high genome collinearity and identity
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BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.
PMID 9155062 · PMC2228233 · British journal of cancer · 1997 · 6 claims · 4 setups
A restriction site-generating PCR (RG-PCR) assay was developed to detect the BRCA1 5382insC mutation.
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Detection of atovaquone-proguanil resistance conferring mutations in Plasmodium falciparum cytochrome b gene in Luanda, Angola.
PMID 16597338 · PMC1513587 · Malaria journal · 2006 · 6 claims · 4 setups
No pfcytb mutations associated with atovaquone-proguanil treatment failure (codon 268 wild type, T802A, A803C) were found in the Luanda study population.
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Optical mapping discerns genome wide DNA methylation profiles.
PMID 18667073 · PMC2516518 · BMC molecular biology · 2008 · 6 claims · 3 setups
Methylated restriction sites can be identified in optical maps as cleavage sites that are absent relative to the in silico (sequence-based) restriction map, since most restriction enzymes fail to cut methylated cognate sequences.
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Leber's hereditary optic neuropathy--case report and literature review.
PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups
Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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A novel role for mitochondria in regulating epigenetic modification in the nucleus.
PMID 18458531 · PMC2639623 · Cancer biology & therapy · 2008 · 8 claims · 6 setups
Mitochondria regulate epigenetic (DNA methylation) modification in the nucleus
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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups
An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)
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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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Detection of p53 mutations in precancerous gastric tissue.
PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups
p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay
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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups
MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments
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The role of p53 inactivation in human cervical cell carcinoma development.
PMID 7841033 · PMC2033612 · British journal of cancer · 1995 · 8 claims · 7 setups
HPV DNA sequences were detected in 43 of 47 (91.5%) primary uterine cervical cancers
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Association of Escherichia coli O157:H7 tir polymorphisms with human infection.
PMID 17718910 · PMC2063500 · BMC infectious diseases · 2007 · 8 claims · 6 setups
tir polymorphisms 255 T>A and RR1-RU3 (presence/absence) associate strongly with human vs bovine isolate source
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Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.
PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups
No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients
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An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.
PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups
The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization
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Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.
PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups
No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing
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Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.
PMID 9099970 · PMC2222784 · British journal of cancer · 1997 · 6 claims · 6 setups
No germline TP53 mutations (exons 5-8) were found in 128 breast cancer patients from 109 families with familial cancer.