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).
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A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups
PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.
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Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups
An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype
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Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
PMID 15890066 · PMC1142516 · BMC medical genetics · 2005 · 7 claims · 3 setups
Screening of the PITX2 coding region and exon-intron junctions in 96 dTGA patients revealed no stop or frameshift mutations.
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Cardiac conduction system malformations in heterotaxy result from dysregulated Pitx2 expression.
PMID 41734036 · PMC13043103 · JCI insight · 2026 · 8 claims · 8 setups
Cryptic-/- embryos (right isomerism model) develop bilateral sinoatrial nodes and an ectopic anterior AV node and bundle, accompanied by reduced Pitx2 expression
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DNA methylation analysis by digital bisulfite genomic sequencing and digital MethyLight.
PMID 18628296 · PMC2504308 · Nucleic acids research · 2008 · 8 claims · 6 setups
Digital PCR compartmentalizes individual bisulfite-converted DNA template molecules into separate wells, enabling single-molecule DNA methylation analysis