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).

Publications 1.3k Datasets 392.5k Experiments 5

System / cell line: additional ✕ Assay: motif ✕ Clear

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups

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Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy

pedigrees pedigree genomic ubiad1 microsatellite fine direct
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

PMID 41820575 · PMC13083237 · Nature genetics · 2026 · 5 claims · 3 setups

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A genome-wide association study identifies a major risk locus for aFTLD-U on chromosome 15q14, with lead SNP rs549846383 (P=5.85×10^-21, OR=26.7)

pathologically additional individuals genome-wide case-control long-read
SysZNF: the C2H2 zinc finger gene database.

PMID 18974185 · PMC2686507 · Nucleic acids research · 2009 · 7 claims · 6 setups

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SysZNF is a database that systematically catalogs C2H2-ZNF genes in human and mouse with physical location, gene models, expression probes, protein domains, homologs, and literature links

user-defined hmm domain all-to-all
Complex landscapes of somatic rearrangement in human breast cancer genomes.

PMID 20033038 · PMC3398135 · Nature · 2009 · 8 claims · 6 setups

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There are more somatic rearrangements in some breast cancers than previously appreciated by cytogenetic methods.

breast subset confirmed paired-end fish exon-exon
Inventory and analysis of the protein subunits of the ribonucleases P and MRP provides further evidence of homology between the yeast and human enzymes.

PMID 16998185 · PMC1636426 · Nucleic acids research · 2006 · 8 claims · 6 setups

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Fungal Pop8 is evolutionarily related to the Rpp14/Pop5 protein family, suggesting Pop8 is the fungal orthologue of Rpp14

sequences sequence eukaryotic mrp psi-blast phylogenetic hmm

Experiments

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

SysZNF: the C2H2 zinc finger gene database.

Complex landscapes of somatic rearrangement in human breast cancer genomes.

Inventory and analysis of the protein subunits of the ribonucleases P and MRP provides further evidence of homology between the yeast and human enzymes.