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).

• Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

  PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

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  Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

  buccal subject ttge real-time pcr-based

• SPRR1B+ keratinocytes prime oral mucosa for rapid wound healing via STAT3 activation.

  PMID 39300285 · PMC11413210 · Communications biology · 2024 · 8 claims · 8 setups

  Has reproduction · 78

  A shared wound healing gene set (P2-WHGs, 146 genes) is constitutively expressed in uninjured oral mucosa but not in uninjured skin

  injured normal p2-whgs oral bulk single-cell gene

• Improvements to cardiovascular gene ontology.

  PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups

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  Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.

  coronary phospholamban mammalian lines gene expression large-scale

• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

  PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups

  Has reproduction · 84

  Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1

  blood-derived four patients col2a1 targeted clinical transthoracic

• Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

  PMID 18925961 · PMC2588460 · BMC cancer · 2008 · 8 claims · 4 setups

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  aCGH profiling of CMML samples reveals three profile types: normal-like (two-thirds of cases), large chromosomal abnormalities, and focal single/few-gene gains or losses

  bone array-cgh sanger nested

• A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

  PMID 22821884 · PMC4166655 · American journal of medical genetics. Part A · 2012 · 8 claims · 6 setups

  Has reproduction · 88

  A novel heterozygous HRAS c.266C>G (p.S89C) germline mutation was identified in two siblings with severe fetal hydrops/pleural effusion (Patient 1) and polyhydramnios/Dandy-Walker malformation (Patient 2).

  cos-7 parental hras genomic ras immunoblotting egf

• Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

  PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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  Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

  hispanic hmfs001 family genomic clinical echocardiography ophthalmologic

• Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

  PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

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  CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

  ebv-transformed genomic father peripheral intracellular snp sequencing