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).

• Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

  PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups

  Full-text index only

  Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

  blood hek293a bosc serum sanger calcium confocal

• 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

  Full-text index only

  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.

  genomic pcr proband restriction sscp automated

• The role of X-chromosome inactivation in female predisposition to autoimmunity.

  PMID 11056674 · PMC17816 · Arthritis research · 2000 · 6 claims · 2 setups

  Full-text index only

  Skewed X-chromosome inactivation in the thymus could lead to inadequate thymic deletion of T cells reactive to X-linked polymorphic self-antigens, predisposing to autoimmunity

  peripheral fluorescent pcr

• Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

  PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups

  Full-text index only

  MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions

  genomic real-time multiplex long-range

• Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.

  PMID 16778401 · PMC2729963 · Journal of Korean medical science · 2006 · 6 claims · 5 setups

  Full-text index only

  Genetic polymorphisms of the GABA A α1 and α6 receptor genes are significantly associated with alcohol dependence, surviving Bonferroni correction.

  genomic hospitalized pcr-rflp structured

• Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

  PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

  Full-text index only

  The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

  blood germline tumor family mutation mlpa microsatellite

• Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

  PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

  Full-text index only

  Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

  peripheral ceph individuals cases strp genotyping fluorescent

• huSA: a comprehensive database for multi-dimensional resolution of bulk, single cell and spatial transcription profiles in skin diseases.

  PMID 41719583 · PMC12923168 · Database : the journal of biological databases and curation · 2026 · 7 claims · 8 setups

  Has reproduction · 50

  huSA is a comprehensive, publicly accessible database integrating bulk RNA-seq, scRNA-seq, and spatial transcriptomics data across 17 skin diseases and 63 independent datasets

  skin scrna-seq scrna-seq transcription cell-cell

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

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

  Full-text index only

  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

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

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

  Full-text index only

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

  genomic migraine pcr clinical

• Single-Cell Analysis Reveals Characterization of Infiltrating T Cells in Moderately Differentiated Colorectal Cancer.

  PMID 33584715 · PMC7873865 · Frontiers in immunology · 2020 · 8 claims · 8 setups

  Has reproduction · 45

  Eight distinct T cell populations can be identified from CRC tumor tissue by unsupervised clustering of scRNA-seq data

  tumor-infiltrating peripheral cd4+ tumor single-cell unsupervised pearson

• NK2R control of energy expenditure and feeding to treat metabolic diseases.

  PMID 39537932 · PMC11602716 · Nature · 2024 · 8 claims · 8 setups

  Has reproduction · 87

  NK2R activation is sufficient to suppress appetite centrally and increase energy expenditure peripherally

  european-ancestry brain nk2r greenlandic gwas transcriptome-wide receptor

• Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

  PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups

  Full-text index only

  A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.

  bone fibroblast 32d.cl8.6 32d rt-pcr genomic flow

• Novel approaches for mechanistic understanding and predicting preeclampsia.

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

  Full-text index only

  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

• To Explore the Key Subgroup and Their Immune Microenvironment During the Formation of Coronary Plaque With scRNA-seq.

  PMID 40454289 · PMC12126265 · Cardiology research and practice · 2025 · 6 claims · 8 setups

  Has reproduction · 33

  C1 RACK1+ NK cells are a crucial subgroup for understanding coronary plaque formation, exhibiting the highest cell stemness/differentiation potential and positioned at the start of the pseudotime trajectory

  coronary scrna-seq five type single-cell doublet copy

• Systems spatiotemporal dynamics of traumatic brain injury at single-cell resolution reveals humanin as a therapeutic target.

  PMID 35951114 · PMC9372016 · Cellular and molecular life sciences : CMLS · 2022 · 8 claims · 8 setups

  Has reproduction · 98

  Coordinated gene expression patterns across cell types are disrupted and re-organized by mTBI with distinct regional, cellular, and temporal (24-h vs 7-day) specificity.

  hippocampus frontal peripheral cell-type single-cell svm-based ligand-receptor

• Alcohol consumption and breast tumor mitochondrial DNA mutations.

  PMID 19847642 · PMC4403627 · Breast cancer research and treatment · 2010 · 8 claims · 6 setups

  Full-text index only

  Somatic mtDNA mutations are a frequent occurrence in breast tumors

  breast paraffin-embedded blood study ttge sequencing immunohistochemistry

• Mural cell-derived chemokines provide a protective niche to safeguard vascular macrophages and limit chronic inflammation.

  PMID 37652021 · PMC10588993 · Immunity · 2023 · 7 claims · 8 setups

  Has reproduction · 83

  Vascular macrophages form a spatiotemporal niche in direct contact with mural cells across microvascular and macrovascular beds

  cx3cr1-mφ rfp-rep coronary peritoneal intravital confocal single-cell

• Assessing personalized molecular portraits underlying endothelial-to-mesenchymal transition within pulmonary arterial hypertension.

  PMID 39462326 · PMC11513636 · Molecular medicine (Cambridge, Mass.) · 2024 · 8 claims · 8 setups

  Has reproduction · 81

  scRNA-seq of PAH and control lung tissue identifies nine distinct cell populations with high heterogeneity in composition, function, distribution, and communication

  lung pah scrna-seq-derived endothelial scrna-seq bulk cell-cell

• Characterizing Neutrophil Subtypes in Cancer Using scRNA Sequencing Demonstrates the Importance of IL1β/CXCR2 Axis in Generation of Metastasis-specific Neutrophils.

  PMID 38358352 · PMC10903300 · Cancer research communications · 2024 · 8 claims · 7 setups

  Has reproduction · 64

  Two main neutrophil subtypes exist in primary tumors: an activated subtype sharing transcriptomic signatures with healthy neutrophils, and a tumor-specific subtype.

  colorectal sorted integrated neutrophil scrna-seq bulk immunohistochemistry