Statements under research, with what informs and what limits them.
A hypothesis here is a research-management object: it names its evidence, the gaps that keep it open and a status (proposed, conditional, deprioritized, withdrawn). No status means validated; biological validation is work this project has not performed.
Research candidates stay conditional: amlexanox and montelukast remain conditional and gentamicin plus mefloquine remains an experimental branch; no exact-genotype pharmacological rescue is established.
Montelukast is a reporter-dependent hit in a three-reporter NMD screen (MVA-NMD-003); amlexanox has functional evidence in one gene and negative evidence with toxicity in another (MVA-AMLEXANOX-010); rapamycin lowers, not raises, the BUB1B locus RNA signal in a fibroblast model (MVA-RAP-GSE65145-001); immunotherapy results concern tumor control, not disease rescue (MVA-IMMUNE-011).
Preserving RNA leaves the stop codon: NMD modulation alone cannot establish a useful L737* protein product.
The L737* allele raises an RNA and translation question first. Readthrough needs exact-context and functional validation; the exact L737* experiment has not been performed (record MVA-L737-NMD-FIRST-001), the readthrough table has no exact L737* context (MVA-RT-002) and the endogenous-protein evidence for readthrough combinations comes from another gene and stop context (MVA-RT-TRANSFER-009).
Abundance is a starting point: matched N1002K protein abundance must be followed by independent functional measurements.
No exact-N1002K functional experiment was located; comparator variants rescued the checkpoint at matched abundance while other equally expressed mutants failed chromosome congression (MVA-N1002K-GATE-002). Stability and residual function remain unresolved, and arimoclomol has no target-engagement evidence at relevant exposure (MVA-ARI-007). Arrest duration is a checkpoint control, not segregation fidelity (MVA-CTRL-006).
Curated: Case page, 01 Summary and findings (card "N1002K / protein function")
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BioLab is the biomedical research area of Stackfire Labs: research cases built around open evidence, reproducible reanalyses and an explicit record of what remains unresolved. It organizes evidence and proposes experiments; it does not run patient experiments or recommend treatments.
Two germline BUB1B variants in mosaic variegated aneuploidy raise separate questions: L737* is an RNA and translation question, N1002K a protein stability and function question. The case records reanalyses and evidence audits, an October 24, 2026 robustness audit and a candidate decision matrix. No exact-genotype pharmacological rescue is established; wet-lab validation remains future work.
A shared research library of publications kept as references, not copies. Every entry links to its original source and records which public bibliographic services supplied its metadata and when. Reading states and collections are bibliographic organization, never scientific validation.
The graph connects a case to its variants, processes, evidence records, publications and hypotheses. Solid lines are documented connections; dashed lines are hypotheses under review. A connection says that a source or record links two items: it is not evidence of causation or efficacy. Every view also has a list alternative.
A research trail is an ordered reading of the evidence, step by step. Hypotheses are statements under research with the evidence that informs or limits them; none is marked validated. Evidence gaps name what has not been measured or located. All of them link to existing records and publications instead of copying them.
The auditable record of the MVA reanalyses with their execution records and downloads, and a Protein Structure Explorer of the predicted BUBR1 model. Tools marked Planned are not built yet. Reanalyses of public processed data and predicted structures are not biological experiments.
No. BioLab is research context, not a clinical diagnostic report or a treatment recommendation. Drug candidates are research hypotheses with explicit gates, not proven treatments. Questions about a person’s care belong with their clinical team.