References, not copies: every entry links to its original source and keeps where its metadata came from. Reading states organise the library; they are not a judgement of scientific quality.
Published sources behind the validated MVA · BUB1B evidence snapshot. Each reference is cited by at least one evidence record. Open the research case.
Supplementary audit documentation · October 24, 2026 research revision · 15 files at commit bc39224
Computational audit documents of this collection's research case, linked at a fixed commit of the research repository. They are not references of the library, experiments or an official resubmission, and they are not counted above. They are read in the “Robustness and limits” step of the case trail and on the case page.
Decision matrixCandidate decision matrix
One page: verified product, exact versus other-model evidence, exposure, function, current gate and decisive experiment. Not an efficacy ranking.
Audit guideBounded exploratory robustness audit
What is stable, what changes and what remains insufficient; reproduction commands and execution provenance.
Protocol amendmentProtocol amendment 01
Recorded before execution: omits a shared-denominator genome-wide correlation, adds an equal-context-weighted PTC summary.
ResultsSensitivity results (machine-readable)
Source inventory and hashes, PTC rows and contexts, every deletion, GSE65145 features and contrasts, stable / changes / insufficient.
Mingzhe Zhang, Tingting Lei, Ying Wang and 4 moreCommunications Biology
BubR1 is a key component of the mitotic checkpoint, a surveillance mechanism which ensures accurate chromosome segregation by facilitating the assembly of the mitotic checkpoint complex (MCC) and promoting its binding to… abstract via Europe PMC
Evidence snapshot note: BUBR1 TPR / MCC–APC/C functional controls. Model: HeLa endogenous BUBR1 RNAi and RNAi-resistant YFP replacement. Where: Figure 4B; supplementary source-data workbook, Sheet1 · cited by MVA-CTRL-006
Elena Torban, Lucie Canaff, Sima Babayeva and 5 moreScientific Reports
Autosomal-Dominant Polycystic Kidney Disease, ADPKD, is the most common genetic kidney disease affecting 1:1000 people worldwide. It is caused by mutations in the PKD1 (~ 80%) or PKD2 gene (~ 15%). Although the germline … abstract via Europe PMC
Evidence snapshot note: Torban et al. — PKD1 readthrough and partial cellular rescue. Model: Human HEK293 PKD1 reporters and WT9-12 cells; other-gene evidence. Where: Figures 1H-I, 4, 5 and 6; published 2025-11-22 · cited by MVA-RT-TRANSFER-009
Ignasi Toledano, Fran Supek, Ben LehnerNature Genetics
Abstract Premature termination codons (PTCs) cause ~10–20% of inherited diseases and are a major mechanism of tumor suppressor gene inactivation in cancer. A general strategy to alleviate the effects of PTCs would be to … abstract via Crossref
Evidence snapshot note: Toledano et al. — genome-scale PTC readthrough. Model: Human HEK293T landing-pad reporters; not endogenous BUB1B. Where: Supplementary Table 3; Extended Data Figure 4 · cited by MVA-RT-002
Meenakshi Hegde, Shoba Navai, Christopher DeRenzo and 34 moreNature Cancer
Evidence snapshot note: Autologous HER2-specific CAR T cells after lymphodepletion for advanced sarcoma: a phase 1 trial. Model: People with progressive HER2-positive sarcoma, including rhabdomyosarcoma.. Where: Abstract; Table 1 and response results / Figure 4 located through indexed primary-article text. · cited by MVA-IMMUNE-011
Corina Amor, Inés Fernández-Maestre, Saria Chowdhury and 16 moreNature Aging
Abstract Senescent cells, which accumulate in organisms over time, contribute to age-related tissue decline. Genetic ablation of senescent cells can ameliorate various age-related pathologies, including metabolic dysfunc… abstract via Crossref
Evidence snapshot note: Prophylactic and long-lasting efficacy of senolytic CAR T cells against age-related metabolic dysfunction. Model: Naturally aged C57BL/6 mice and high-fat-diet mice.. Where: Figures 3-5 (clearance, safety assessments and metabolic endpoints); Figures 6-7 (persistence/prevention and high-fat diet). · cited by MVA-IMMUNE-011
Nesrine Benslimane, Federica Miressi, Camille Loret and 7 morePharmaceuticals
Nonsense mutations are involved in multiple peripheral neuropathies. These mutations induce the presence of a premature termination codon (PTC) at the mRNA level. As a result, a dysfunctional or truncated protein is synt… abstract via Crossref
Evidence snapshot note: Amlexanox in GDAP1 neuronal progenitors. Model: Human iPSC-derived neuronal progenitors with GDAP1 p.Ser194* (UGA). Where: Figures 2-4 · cited by MVA-AMLEXANOX-010
Kara L. Davis, Elizabeth Fox, Emasenyie Isikwei and 7 moreClinical Cancer Research
PURPOSE: In many cancers, nivolumab in combination with ipilimumab improves response rates compared with either agent alone, but the combination has not been evaluated in childhood cancer. We conducted a phase I/II trial… abstract via OpenAlex
Evidence snapshot note: A Phase I/II Trial of Nivolumab Plus Ipilimumab in Children and Young Adults with Relapsed/Refractory Solid Tumors: ADVL1412. Model: Children and young adults with recurrent/refractory solid tumors.. Where: Abstract reproduced by the investigators at Children's Oncology Group; Figure 3A located in indexed primary text. · cited by MVA-IMMUNE-011
Christoph Steurer, Sarah Kerschbaum, Christina Wegrostek and 5 moreMolecular Biotechnology
Abstract The heat shock response (HSR) pathway is a highly conserved rescue mechanism, which protects the cells from harmful insults disturbing the cellular protein homeostasis via expression of chaperones. Furthermore, … abstract via Crossref
Evidence snapshot note: Steurer et al. — HSF1 reporter evaluation. Model: Human HSF-responsive reporter and endogenous target systems. Where: Table 1 and Figure 4: negative arimoclomol response in this system · cited by MVA-ARI-007
Kohei Omachi, Hirofumi Kai, Michel Roberge, Jeffrey H. MineriScience
Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the COL4A3 , COL4A4 , or COL4A5 genes encoding collagen α3α4α5(IV) of basement membranes. Collagen IV chains that are truncated due … abstract via Europe PMC
Evidence snapshot note: Omachi et al. — COL4A5 readthrough reporters. Model: HEK293 COL4A5 cDNA reporters; different gene and context. Where: Figure 6: gentamicin plus mefloquine · cited by MVA-RT-002
Nonsense-mediated mRNA decay (NMD) degrades transcripts with premature stop codons. Given the prevalence of nonsense single nucleotide polymorphisms (SNPs) in the general population, it is urgent to catalog the effects o… abstract via Europe PMC
Evidence snapshot note: Zhao et al. — molecular profiling of NMD modulators. Model: Mouse Neuro-2a; three AS-NMD isoform reporters. Where: Tables S1/S2/S4; Figures 2–5 and 7 · cited by MVA-NMD-003, MVA-AMLEXANOX-010
Markus T. Sainio, Tiina Rasila, Svetlana M. Molchanova and 12 moreFrontiers in Cell and Developmental Biology
Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill the axonal cytoplasm, establish caliber growth, and provide structural support. Domin… abstract via Crossref
Evidence snapshot note: NEFL motor-neuron negative rescue. Model: Human iPSC-derived NEFL nonsense motor neurons. Where: Figure 6; Treatments · cited by MVA-AMLEXANOX-010
Kara L Davis, Elizabeth Fox, Melinda S Merchant and 8 moreThe Lancet Oncology
Evidence snapshot note: Nivolumab in children and young adults with relapsed or refractory solid tumours or lymphoma (ADVL1412). Model: Pediatric and young-adult relapsed/refractory malignancies; phase 1-2.. Where: Abstract, findings and interpretation; no figure-level extraction. · cited by MVA-IMMUNE-011
Cynthia J. Sieben, Karthik B. Jeganathan, Grace G. Nelson and 8 moreJournal of Clinical Investigation
Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations; increased chromosome missegregation; and a broad spectrum of clinical features, inc… abstract via OpenAlex
Evidence snapshot note: Sieben et al. — allelic effects in MVA progeria syndrome. Model: Mouse BubR1 L1002P ortholog model of human L1012P with hypomorphic or truncating alleles. Where: Abstract and Figures 1-3; related variant, not N1002K · cited by MVA-N1002K-GATE-002
Catherine A.S. Deane, Ian R. BrownCell Stress and Chaperones
Few effective therapies exist for the treatment of neurodegenerative diseases that have been characterized as protein misfolding disorders. Upregulation of heat shock proteins (Hsps) mitigates against the accumulation of… abstract via OpenAlex
Evidence snapshot note: Deane and Brown — conditional heat-shock co-induction. Model: Differentiated human SH-SY5Y cells; arimoclomol plus celastrol. Where: Figures 2–5; not a BUBR1 study · cited by MVA-ARI-007
Zoe E Gillespie, Kimberly MacKay, Michelle Sander and 10 moreNucleus
Rapamycin is a well-known inhibitor of the Target of Rapamycin (TOR) signaling cascade; however, the impact of this drug on global genome function and organization in normal primary cells is poorly understood. To explore… abstract via OpenAlex
Evidence snapshot note: Gillespie et al. — rapamycin and normal human fibroblast transcription. Model: 2DD normal human foreskin fibroblasts; two biological replicates per condition. Where: GSE65145 processed tracks; Figures 1 and 3; Figure S2; Cell culture and RNA-seq methods · cited by MVA-RAP-GSE65145-001
Peng Xu, Elizabeth A. Raetz, Mayumi Kitagawa and 2 moreBiology Open
Summary BUBR1 is a mitotic phosphoprotein essential for the maintenance of chromosome stability by promoting chromosome congression and proper kinetochore–microtubule (K-fiber) attachment, but the underlying mechanism(s)… abstract via Crossref
Evidence snapshot note: Xu et al. — BUBR1 recruits PP2A-B56 for chromosome congression. Model: HeLa BUBR1 depletion/reconstitution and BUB1B-mutated MVA fibroblast rescue. Where: Figures 2 and 4; equally expressed B56-binding mutants are functional counterexamples · cited by MVA-N1002K-GATE-002
Sara Gonzalez-Hilarion, Terence Beghyn, Jieshuang Jia and 7 moreOrphanet Journal of Rare Diseases
Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA survei… abstract via Europe PMC
Evidence snapshot note: Amlexanox rescue in human cells. Model: Human 6CFSMEo- CFTR nonsense cells. Where: Figure 6 · cited by MVA-AMLEXANOX-010
Saskia J.E. Suijkerbuijk, Maria H.J. van Osch, Frank L. Bos and 3 moreCancer Research
Genetic mutations in the mitotic regulatory kinase BUBR1 are associated with the cancer-susceptible disorder mosaic variegated aneuploidy (MVA). In patients with biallelic mutations, a missense mutation pairs with a trun… abstract via OpenAlex
Evidence snapshot note: Suijkerbuijk et al. — molecular causes of BUBR1 dysfunction. Model: U2OS/HeLa BUBR1 depletion and replacement. Where: Figures 4D and 5; comparator variants, not N1002K · cited by MVA-N1002K-GATE-002, MVA-L737-NMD-FIRST-001
External results are not part of the library. They come live from the public sources named on each card; save one to keep it with its provenance.
Type a query above and search the public sources. Results stay separate from the library until you save them.
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.