MétaCan
Menu
Back to cohort
Record W2045018335 · doi:10.1191/0961203303lu359xx

Genetic studies of pulmonary arterial hypertension

2003· review· en· W2045018335 on OpenAlexfundno aff
Jane H. Morse

Bibliographic record

VenueLupus · 2003
Typereview
Languageen
FieldMedicine
TopicPulmonary Hypertension Research and Treatments
Canadian institutionsnot available
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteUniversity of CalgaryVanderbilt University
KeywordsBMPR2Bone morphogenetic protein receptorGeneMedicineGeneticsHuman leukocyte antigenLocus (genetics)PathogenesisAutoantibodyPulmonary hypertensionAlleleBone morphogenetic proteinImmunologyBiologyAntibodyAntigenInternal medicine

Abstract

fetched live from OpenAlex

These genetic studies of primary pulmonary hypertension (PPH) initially tried to define immunogenetic subsets. Because only small subsets could be classified when defined by HLA/autoantibody associations and the familial form of PPH failed to segregate with the HLA class II locus, the focus shifted to a genome scan of families with PPH (FPPH). This approach identified a gene on chromosome 2q33,34 called PPH1. Mutations in this gene, now known to be bone morphogenetic protein receptor 2 (BMPR2), can cause PPH. Mutations in a second gene, ALK-1, present in families with hereditary hemorrhagic telangiectasia type 2, also causes PPH. Both genes, involved in TGF-B signaling, provide exciting clues for defining the pathogenesis of PPH.

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.

How this classification was reachedexpand

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: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.958
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0030.001
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 head0.135
GPT teacher head0.381
Teacher spread0.246 · 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

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designNot applicable
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations8
Published2003
Admission routes1
Has abstractyes

Explore more

Same venueLupusSame topicPulmonary Hypertension Research and TreatmentsFrench-language works237,207