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).

• A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

  PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups

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  A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19

  affected family rp19 selected genome-wide microsatellite direct

• Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

  PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups

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  A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.

  genomic patients pcr clinical genomic

• Nucleotide sequence polymorphism at the apical membrane antigen-1 locus reveals population history of Plasmodium vivax in Thailand.

  PMID 19643205 · PMC2790030 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2009 · 8 claims · 6 setups

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  The domain II loop of PvAMA-1 is almost completely conserved at the amino acid level, consistent with strong purifying selection.

  plasmodium pvama-1 vivax pcr molecular merozoite

• Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.

  PMID 41637188 · PMC12932927 · Cell reports · 2026 · 8 claims · 8 setups

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  Combined MPRA enhancer assays, RNA-seq (DE/ATU) analysis, and CRISPR-Cas9 engineering to dissect the function of 94 rare non-coding variants (RNVs) associated with blood traits

  k-562 chrf-288-11 hl-60 thp-1 massively bulk crispr-cas9

• CD38 expression by neonatal human naive CD4+ T cells shapes their distinct metabolic and tolerogenic properties.

  PMID 41746743 · PMC13078883 · The Journal of clinical investigation · 2026 · 8 claims · 8 setups

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  CD38 is markedly more highly expressed on cord blood (CB) naive CD4+ T cells than adult blood (AB) naive CD4+ T cells, with an age-dependent gradient from fetal to pediatric life.

  pbmcs sorted scrna-seq naive flow bulk compass

• Gene expression profiling identifies potential biomarkers for vaso-occlusive episodes in sickle cell disease.

  PMID 41797711 · PMC13041688 · JCI insight · 2026 · 8 claims · 5 setups

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  Pathways linked to complement activation, coagulation, and IL-6/JAK/STAT3 signaling are enriched during VOEs in CD45+ leukocytes

  cd45+ cd71+ plasma bulk gsva plasma

• Monocytes Defined by Platelet Interactions and Oxidative Stress Signaling Underlie HIV-Associated Atherosclerosis.

  PMID 41823228 · PMC13055746 · Journal of the American Heart Association · 2026 · 8 claims · 8 setups

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  Two monocyte clusters (platelet-monocyte complex [PMC] and CD14+ monocytes) contribute independently to vascular immune dysregulation in PLWH

  circulating plasma platelet-monocyte cd14+ single-cell plasma bulk

• Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

  PMID 41872207 · PMC13171879 · Nature communications · 2026 · 8 claims · 7 setups

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  A sequential sequencing strategy (WES→WGS→RNA-seq→NLR-seq) identifies COL4A3/COL4A4/COL4A5 variants in 509/555 (91.7%) of Alport syndrome patients

  chinese prediction-negative randomly minigene whole-exome whole-genome sequencing

• scDenorm: a denormalization tool for integrating single-cell transcriptomics data.

  PMID 41915012 · PMC13142155 · GigaScience · 2026 · 8 claims · 7 setups

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  Inconsistent delta-method normalization across datasets introduces biases (e.g., B-cell separation) that persist even after integration with Harmony, scanorama, or BBKNN.

  10x brain ucsc datasets scrna-seq integration snrna-seq

• Stimulation to secrete insulin induces pancreatic β-cell dysfunction through Tfe3 activation.

  PMID 41940345 · PMC13049674 · iScience · 2026 · 8 claims · 8 setups

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  Continuous glucose supplementation in mice induces Tfe3 nuclear accumulation in islet β-cells, associated with Mafa downregulation and impaired glucose tolerance

  c57bl pancreas min6 intraperitoneal immunofluorescence insulin

• Novel approaches for mechanistic understanding and predicting preeclampsia.

  PMID 19836839 · PMC2790420 · Journal of reproductive immunology · 2009 · 8 claims · 6 setups

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  The classic two-stage hypothesis (Stage I poor placental perfusion causing Stage II maternal symptoms) needs reevaluation because reduced perfusion alone may be insufficient to cause PE.

  maternal il-10-deficient first-trimester third-trimester surgical seldi-tof genetic

• Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

  PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups

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  Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.

  lung plasmid pcr-based denaturing

• The limits of reductionism in medicine: could systems biology offer an alternative?

  PMID 16681415 · PMC1459480 · PLoS medicine · 2006 · 8 claims · 3 setups

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  Reductionist medical science (focus on singular causal factors, homeostasis-as-normal-range, one-risk-factor epidemiology, additive treatment of comorbidities) has inherent limitations for explaining complex disease behavior

  escherichia population genome mathematical epidemiological genome

• Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

  PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups

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  Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.

  genomic real-time rflp sequencing

• Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

  PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups

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  The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder

  genomic haplotype direct full

• Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients.

  PMID 18366776 · PMC2311324 · BMC neurology · 2008 · 6 claims · 3 setups

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  ACE I/D genotype and allele distributions do not differ significantly between migraine patients and controls

  genomic migraine pcr clinical

• Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets.

  PMID 35672799 · PMC9175345 · Genome biology · 2022 · 8 claims · 7 setups

  Has reproduction

  CD4+ T cells and B cells independently and significantly contribute to MS GWAS heritability enrichment, distinct from a merely shared immune regulatory landscape.

  flow-sorted cd4+ hematopoietic gwas bulk atac-seq stratified

• Metabolic profiling during malaria reveals the role of the aryl hydrocarbon receptor in regulating kidney injury.

  PMID 33021470 · PMC7538157 · eLife · 2020 · 8 claims · 8 setups

  Has reproduction · 62

  Plasma AHR ligands derived from heme metabolism (biliverdin, bilirubin) and tryptophan/kynurenine pathway metabolites increase during acute Pc malaria in mice and acute cerebral malaria in humans

  c57bl pediatric littermate untargeted targeted bilirubin

• Constraints to gene flow increase the risk of genome erosion in the Ngorongoro Crater lion population.

  PMID 40258987 · PMC12012037 · Communications biology · 2025 · 8 claims · 9 setups

  Has reproduction · 68

  200 years of quasi-isolation and the 1962 epizootic caused a two-fold increase in inbreeding and an excess of highly deleterious mutations in Crater lions relative to other Greater Serengeti populations

  african lion crater simulated genome principal admixture

• Estimation of genetic parameters and genome-wide association study for carcass traits in native chickens.

  PMID 40211845 · PMC12229932 · Animal bioscience · 2025 · 8 claims · 7 setups

  Has reproduction · 71

  Carcass traits (SW, EW, ThW, and their percentages except SP) show moderate to high heritability (0.20-0.50), while SP has low heritability (0.08)

  sanhuang breast whole-genome genome-wide heritability