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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Has reproduction
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups
HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition
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Has reproduction · 88
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
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).
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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
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Bromodomain protein IBD1 bridges histone acetylation and H2A.Z deposition to fine-tune transcription.
PMID 41728948 · PMC12926916 · Nucleic acids research · 2026 · 8 claims · 8 setups
IBD1's bromodomain recognizes H3K9/K14 di-acetylation to recruit the SWR complex subunit ARP6, ensuring precise H2A.Z incorporation into chromatin
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Has reproduction · 48
Rbfox2 controls autoregulation in RNA-binding protein networks.
PMID 24637117 · PMC3967051 · Genes & development · 2014 · 8 claims · 8 setups
Rbfox2 cross-regulates AS-NMD events within RNA-binding protein genes to alter their expression, tuning autoregulatory splicing networks and placing Rbfox2 at a critical node of a multilayer regulatory network.
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Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
PMID 19753315 · PMC2742642 · Molecular vision · 2009 · 8 claims · 5 setups
Wild-type HA-tagged CLRN1 is correctly trafficked to the plasma membrane in transfected BHK-21 cells
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Mutational Signatures and Clonal Hematopoiesis in Intestinal Metaplasia across Countries with Varying Stomach Cancer Incidence.
PMID 41532847 · PMC13056296 · Cancer discovery · 2026 · 8 claims · 8 setups
High-depth targeted sequencing of >1,500 IM samples from six countries identified 47 significantly mutated driver genes, including ARID1A, KRAS/MAPK pathway genes, and PIGR
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Dominant clones leverage developmental epigenomic states to drive ependymoma.
PMID 41882368 · PMC13102692 · Nature · 2026 · 8 claims · 8 setups
Chromatin accessibility patterns in neural progenitor cells are pre-established during normal development and are subsequently commissioned (not created) by ZR binding to drive oncogene expression
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Increased constraints on MC4R during primate and human evolution.
PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups
There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.
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Has reproduction · 80
The Cohesin Ring Uses Its Hinge to Organize DNA Using Non-topological as well as Topological Mechanisms.
PMID 29754816 · PMC6371919 · Cell · 2018 · 8 claims · 7 setups
Co-entrapment of sister DNAs inside cohesin rings (CDs) correlates perfectly with sister chromatid cohesion across multiple cell-cycle stages and mutants
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Has reproduction · 80
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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Has reproduction · 90
Evolutionary repair: Changes in multiple functional modules allow meiotic cohesin to support mitosis.
PMID 32155147 · PMC7138332 · PLoS biology · 2020 · 8 claims · 7 setups
Replacing Scc1 with Rec8 in mitosis impairs sister chromosome cohesion, advances the timing of genome replication, and reduces reproductive fitness by 45%