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).
-
Full-text index only
Genetic polymorphisms of Echinococcus tapeworms in China as determined by mitochondrial and nuclear DNA sequences.
PMID 19800346 · PMC2823955 · International journal for parasitology · 2010 · 8 claims · 7 setups
Species identification by mitochondrial (cox1) and nuclear (ef1a) markers was identical across isolates, indicating introgressive hybridization among sympatric Echinococcus species is infrequent.
-
Full-text index only
Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes
-
Full-text index only
Pharmacogenomic biomarkers.
PMID 12364812 · PMC3850811 · Disease markers · 2002 · 8 claims · 8 setups
Development of a pharmacogenomic biomarker requires sequential steps: laboratory identification, retrospective confirmation in clinical samples, prospective clinical trial validation, and regulatory approval before patient stratification.
-
Full-text index only
Environmental genome project: focusing on differences to understand the whole.
PMID 12460813 · PMC1241127 · Environmental health perspectives · 2002 · 8 claims · 4 setups
The EGP has generated a working list of more than 550 environmentally responsive genes involved in pathways such as metabolism, DNA repair, and cell cycle control as candidates for SNP resequencing.
-
Full-text index only
Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.
PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups
The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.
-
Full-text index only
Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.
PMID 19099557 · PMC2630295 · Cardiovascular ultrasound · 2008 · 8 claims · 4 setups
HCM and about 50% of idiopathic DCM are familial diseases with an autosomal dominant pattern of inheritance
-
Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
-
Has reproduction · 93
A comparative study on recombination activity in cattle.
PMID 41942849 · PMC13067647 · Genetics, selection, evolution : GSE · 2026 · 8 claims · 8 setups
Genotype data with high systematic missingness across breeds and arrays can be streamlined and analysed with three complementary recombination-estimation approaches (HMM-based LINKPHASE3, deterministic hsphase, likelihood-based hsrecombi)
-
Full-text index only
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.
-
Full-text index only
Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.
PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups
Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.
-
Full-text index only
Genetic diversity of swine influenza viruses isolated from pigs during 2000 to 2005 in Thailand.
PMID 19453423 · PMC4941901 · Influenza and other respiratory viruses · 2008 · 8 claims · 6 setups
Phylogenetic analysis revealed nine distinct genotypes among the 12 Thai SIVs examined.
-
Full-text index only
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups
G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation
-
Full-text index only
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups
A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01
-
Full-text index only
Genetic diversity of clinical isolates of Bacillus cereus using multilocus sequence typing.
PMID 18990211 · PMC2585095 · BMC microbiology · 2008 · 8 claims · 7 setups
The 55 clinical B. cereus isolates were phylogenetically diverse, comprising 38 sequence types (STs) distributed across two of three previously described clades.
-
Full-text index only
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups
LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype
-
Full-text index only
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups
Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C
-
Full-text index only
Indi-gene-ous conflict.
PMID 11401778 · PMC1240322 · Environmental health perspectives · 2001 · 8 claims · 2 setups
Richard Ward collected blood samples from Nuu-chah-nulth Indians for an arthritis genetics study, then used them without consent for unrelated genetic anthropology research identifying them as a distinct population.
-
Has reproduction · 93
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.
PMID 37563310 · PMC10457199 · Nature immunology · 2023 · 8 claims · 8 setups
Genome-wide pQTL mapping of 91 inflammation-related plasma proteins in 14,824 participants identified 180 pQTLs (59 cis, 121 trans).
-
Has reproduction · 57
The identification of a Distinct Astrocyte Subtype that Diminishes in Alzheimer's Disease.
PMID 38502590 · PMC11567244 · Aging and disease · 2024 · 7 claims · 6 setups
A distinct astrocyte subpopulation marked by low GFAP, plus AQP4 and CD63 expression, exists in normal brain but is diminished in AD samples in both human and mouse.
-
Has reproduction
The impact of haplotypes derived from Chinese pigs on genetic variation and economic traits in the Duroc breed.
PMID 41131451 · PMC12551222 · Genetics, selection, evolution : GSE · 2025 · 7 claims · 8 setups
Significant genetic introgression from Chinese pigs into commercial European lines was confirmed, with introgressed segments predominantly deriving from Southern Chinese domestic pigs (CSDP) with additional contributions from Eastern Chinese domestic pigs (CEDP).