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Record W2952200551 · doi:10.1016/j.stem.2019.05.013

Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis

2019· article· en· W2952200551 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueCell stem cell · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicHedgehog Signaling Pathway Studies
Canadian institutionsUniversity of TorontoSickKids FoundationAlberta Children's HospitalUniversity of CalgaryHospital for Sick Children
FundersNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Cancer InstituteMedical Research CouncilFondation de l'Avenir pour la Recherche Médicale AppliquéeCancer Research UKWellcome TrustCollege of Natural Resources and Sciences, Humboldt State UniversityHector Stiftung IICentre National de la Recherche ScientifiqueSamuel Waxman Cancer Research FoundationSociété Française de Dermatologie et de Pathologie Sexuellement TransmissibleInstitut National Du CancerBrain Tumour CharityHector StiftungInstitut National de la Santé et de la Recherche MédicaleFondation ARC pour la Recherche sur le CancerAgence Nationale de la RechercheScience Foundation IrelandUniversity of California, San FranciscoPediatric Brain Tumor FoundationAmerican Cancer SocietyNational Institutes of HealthUniversité Nice Sophia AntipolisNational Institute for Health and Care ResearchAlex's Lemonade Stand Foundation for Childhood CancerV Foundation for Cancer Research
KeywordsMedulloblastomaBiologyStem cellCancer researchCarcinogenesisGermlineProgenitor cellTranscriptomePTCH1Neuroepithelial cellNeural stem cellGeneticsCancerSonic hedgehogGene

Abstract

fetched live from OpenAlex

Human neural stem cell cultures provide progenitor cells that are potential cells of origin for brain cancers. However, the extent to which genetic predisposition to tumor formation can be faithfully captured in stem cell lines is uncertain. Here, we evaluated neuroepithelial stem (NES) cells, representative of cerebellar progenitors. We transduced NES cells with MYCN, observing medulloblastoma upon orthotopic implantation in mice. Significantly, transcriptomes and patterns of DNA methylation from xenograft tumors were globally more representative of human medulloblastoma compared to a MYCN-driven genetically engineered mouse model. Orthotopic transplantation of NES cells generated from Gorlin syndrome patients, who are predisposed to medulloblastoma due to germline-mutated PTCH1, also generated medulloblastoma. We engineered candidate cooperating mutations in Gorlin NES cells, with mutation of DDX3X or loss of GSE1 both accelerating tumorigenesis. These findings demonstrate that human NES cells provide a potent experimental resource for dissecting genetic causation in medulloblastoma.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.009
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.005
GPT teacher head0.182
Teacher spread0.177 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it