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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Genomes of Helicobacter pylori from native Peruvians suggest admixture of ancestral and modern lineages and reveal a western type cag-pathogenicity island.
PMID 16872520 · PMC1553449 · BMC genomics · 2006 · 8 claims · 7 setups
Native Peruvian H. pylori strains comprise two lineages: predominant hp-Europe and ~20% hsp-Amerind (Amerindian ancestry, closer to Alaska strains)
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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.
PMID 19806195 · PMC2751832 · PloS one · 2009 · 8 claims · 8 setups
The W438 hPolλ variant has reduced base substitution fidelity in vitro compared to wild-type R438
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Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.
PMID 33722289 · PMC7962346 · Genome biology · 2021 · 7 claims · 8 setups
A three-base-pair (HDR) or single-base (PE2) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder, but not heart or brain
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Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups
Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)
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Triplex targeted genomic crosslinks enter separable deletion and base substitution pathways.
PMID 16186129 · PMC1236719 · Nucleic acids research · 2005 · 8 claims · 4 setups
Targeted pso-TFO genomic crosslinks resolve via genetically separable pathways leading to either base substitutions or deletions.
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K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.
PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups
K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event
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Oncogenic mutations in GNAQ occur early in uveal melanoma.
PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups
Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM
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Variation in the Neisseria lactamica porin, and its relationship to meningococcal PorB.
PMID 18451061 · PMC2885628 · Microbiology (Reading, England) · 2008 · 8 claims · 6 setups
N. lactamica por is less diverse than meningococcal porB2 and porB3
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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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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.
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Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups
OPTC is a candidate gene involved in POAG pathogenesis
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A missense mutation in LIM2 causes autosomal recessive congenital cataract.
PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups
A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family
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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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Genetic variation in PARL influences mitochondrial content.
PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups
PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis
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The Neandertal genome and ancient DNA authenticity.
PMID 19661919 · PMC2725275 · The EMBO journal · 2009 · 8 claims · 6 setups
Only direct assays of DNA sequence positions where Neandertals differ from all contemporary humans can reliably estimate human contamination.
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Infrequent involvement of p53 gene mutations in the tumourigenesis of Japanese prostate cancer.
PMID 7691145 · PMC1968625 · British journal of cancer · 1993 · 6 claims · 3 setups
p53 gene mutations are infrequent in the tumorigenesis of primary Japanese prostate cancer
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Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups
Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age
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Genetic variability of the P120' surface protein gene of Mycoplasma hominis isolates recovered from Tunisian patients with uro-genital and infertility disorders.
PMID 18053243 · PMC2225410 · BMC infectious diseases · 2007 · 7 claims · 5 setups
The P120' surface-exposed N-terminal region undergoes substantial genetic variability among Tunisian M. hominis clinical isolates