Nodes are publications, genes, proteins, variants, diseases, biological processes, drugs, evidence records and hypotheses of a research case. Solid lines are documented connections; dashed lines are hypotheses still under review. No connection is inferred from word co-occurrence.
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Research case
Gene
Protein
Variant
Disease
Biological process
Drug / compound
Evidence record
Publication
Hypothesis
Documented connection
Under review
Evidence record
N1002K stabilization: equal-expression gate
No exact-N1002K functional experiment was located. I909T/L1012P checkpoint rescue at matched abundance makes an abundance-limited mechanism plausible, but equally expressed B56-binding mutants still failed chromosome-congression rescue and mouse L1012P showed allelic effects beyond total protein level. Stabilization remains conditional; no drug is promoted.
Evidence-guided drug repurposing. Explore how two germline BUB1B variants raise separate RNA and protein questions in mosaic variegated aneuploidy, and which evidence could inform …
Functional CFTR evidence supports investigating amlexanox, but negative NEFL rescue with neurite toxicity and context-dependent NMD responses prevent promotion to an established le…
No exact L737* measurement or exact six-flanking-base match in the 5,837-PTC table. Twelve nearest contexts have a median paired gentamicin increment of 0.0165 percentage points.
No direct BUBR1 or N1002K rescue evidence was located in the audit. Heat-shock responses are context-dependent; arimoclomol is not promoted to lead candidate.
Genetic senescent-cell ablation delayed selected phenotypes in BubR1-deficient mice; uPAR CAR T benefits came from other mouse models. HER2 CAR T and nivolumab/ipilimumab show limi…
No exact-N1002K functional experiment was located. I909T/L1012P checkpoint rescue at matched abundance makes an abundance-limited mechanism plausible, but equally expressed B56-bin…
Montelukast has a published permutation q of 0.021150, but the response is reporter-dependent and confounded by non-NMD isoform changes. No hit establishes functional BUBR1 rescue.
A related 731X construct motivates testing whether L737* retains useful function when NMD is bypassed. The exact L737* experiment has not been performed.
G418/ELX-02 with or without mefloquine were studied beyond reporters, including endogenous PKD1 protein and withdrawal measurements. This does not establish gentamicin-combination …
The primary BUB1B-spanning feature has a Rap/Pro mean ratio of 0.585706 (41.43% lower); reduced-serum/Pro is 0.186191. Three nearly full-span features give the same direction. This…
The synthetic fixture flags fewer raw error-positive divisions without a lower error rate per completed division. It does not measure sirolimus activity.
Amlexanox and montelukast remain conditional; gentamicin plus mefloquine remains an experimental branch. No exact-genotype pharmacological rescue is established.
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.