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).

• Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

  PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups

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  The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17

  family genomic case-control case fluorescence long-range mutation

• 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

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

  blood hek293a bosc serum sanger calcium confocal

• Polymorphic repeat in AIB1 does not alter breast cancer risk.

  PMID 11056690 · PMC13920 · Breast cancer research : BCR · 2000 · 7 claims · 3 setups

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  AIB1 alleles with 26 or fewer glutamine repeats are not associated with increased breast cancer risk in the general population

  peripheral cohort plasma pcr nested plasma

• Identification of the Wheat (Triticum aestivum) IQD Gene Family and an Expression Analysis of Candidate Genes Associated with Seed Dormancy and Germination.

  PMID 35456910 · PMC9025732 · International journal of molecular sciences · 2022 · 8 claims · 8 setups

  Has reproduction · 78

  73 IQD gene family members were identified in the wheat genome and classified into six phylogenetic groups

  triticum taiqd wheat rice genome-wide phylogenetic gene

• Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

  PMID 18955570 · PMC2585845 · The Journal of experimental medicine · 2008 · 7 claims · 8 setups

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  Familial primary PAP is caused by compound heterozygous mutations in CSF2RA: a paternal G174R point mutation and a maternal 1.6-Mb deletion at Xp22.33 encompassing CSF2RA.

  peripheral pbmc blood lung flow western gm-csf

• Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.

  PMID 19949658 · PMC2775850 · Journal of Korean medical science · 2009 · 8 claims · 4 setups

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  All 12 analyzed CGD patients from 10 unrelated Jeju families carry an identical homozygous c.7C>T substitution in exon 1 of CYBA, predicted to cause a nonsense mutation (p.Q3X)

  peripheral genomic dhr western rt-pcr

• Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier.

  PMID 18654618 · PMC2442658 · PLoS genetics · 2008 · 8 claims · 5 setups

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  Loss of AGG interruptions in CGG repeat tracts predisposes FMR1 alleles to instability and faster progression toward premutation/disease state

  fmr1 xq28 genome agg fluorescence genome-wide

• A spectrum of severe familial liver disorders associate with telomerase mutations.

  PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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  Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

  leukocyte leukocytes reconstitution liver sanger flow telomerase

• Metatranscriptomics-based investigation of bacterial community dynamics across a dissolved organic matter gradient in southern Lake Michigan.

  PMID 41860215 · PMC13101498 · Applied and environmental microbiology · 2026 · 7 claims · 6 setups

  Has reproduction · 81

  Offshore Lake Michigan bacterioplankton show higher expression of DOM, N, and P acquisition/transporter genes than nearshore bacterioplankton

  bacterioplankton lake metatranscriptomics metagenomic nutrient

• Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

  PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups

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  Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA

  build chimpanzee unrelated ceph comparative three-color pcr

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex

• Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.

  PMID 26969729 · PMC4812528 · Molecular systems biology · 2016 · 8 claims · 6 setups

  Has reproduction · 67

  Cell adhesion pathways are significantly and consistently dysregulated in women who develop familial breast cancer (FBC)

  peripheral pbmcs normal mammary gene exome western

• The DNA sequence and analysis of human chromosome 13.

  PMID 15057823 · PMC2665288 · Nature · 2004 · 8 claims · 8 setups

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  95.5 Mb of finished sequence from chromosome 13 was completed, containing 633 genes and 296 pseudogenes.

  chromosome rpci-11 genomic comparative fluorescence

• Association of GSK3B with Alzheimer disease and frontotemporal dementia.

  PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

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  The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

  genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization

• Sequencing the regulatory genome.

  PMID 18598374 · PMC2481419 · Genome biology · 2008 · 8 claims · 8 setups

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  Nuclear-lamina-associated domains (LADs) define chromatin regions with distinct transcriptional characteristics (fewer, lower-expressed genes, low RNA Pol II occupancy, H3K27me3-enriched borders)

  interphase nine beta-globin drosophila nuclear digital chip

• Pseudoalteromonas is a symbiont of marine invertebrates that exhibits broad patterns of phylosymbiosis.

  PMID 42007585 · PMC13245728 · The ISME journal · 2026 · 8 claims · 8 setups

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  Pseudoalteromonas is a symbiont with substantial evidence of phylosymbiosis across at least three marine invertebrate phyla (Nematoda, Mollusca, and Cnidaria)

  pseudoalteromonas mollusca individual live pangenomic core-genome average