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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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups
A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)
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Modification of the Creator recombination system for proteomics applications--improved expression by addition of splice sites.
PMID 16519801 · PMC1421398 · BMC biotechnology · 2006 · 8 claims · 8 setups
The Creator Splice system (5' intron splicing) significantly increases protein expression levels compared to the standard Creator system
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A search for structurally similar cellular internal ribosome entry sites.
PMID 17591613 · PMC1950536 · Nucleic acids research · 2007 · 8 claims · 7 setups
Cellular IRES are not defined by an overall conserved structure (unlike viral IRES) but instead depend on short RNA motifs and shared trans-acting factors (ITAFs)
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Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.
PMID 19754929 · PMC2759954 · BMC genetics · 2009 · 8 claims · 4 setups
Breast tumor heterozygotes show a significant difference in relative mRNA levels between the two alleles of rs4986938
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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The TRIP12's intrinsically disordered region induces chromatin condensates and interferes with nuclear processes.
PMID 41660270 · PMC12876695 · iScience · 2026 · 8 claims · 8 setups
TRIP12 overexpression induces dose-dependent formation of chromatin condensates enriched in heterochromatin marks
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Mutational analysis of human CEACAM1: the potential of receptor polymorphism in increasing host susceptibility to bacterial infection.
PMID 16953805 · PMC1859983 · Cellular microbiology · 2007 · 7 claims · 8 setups
Ile-91 is the primary docking residue required for binding of all tested Nm and Hi strains to CEACAM1, despite structural diversity of bacterial ligands
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Ancient variation of the AvrPm17 gene in powdery mildew limits the effectiveness of the introgressed rye Pm17 resistance gene in wheat.
PMID 35857869 · PMC9335242 · Proceedings of the National Academy of Sciences of the United States of America · 2022 · 6 claims · 8 setups
AvrPm17 is encoded by a paralogous, tandemly duplicated effector gene pair located in a pericentromeric, mildew sublineage-specific effector cluster (family E003) showing signs of recurring gene conversion.
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Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups
FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups
50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.