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<i>Adam10</i> haploinsufficiency causes freckle‐like macules in <i>Hairless</i> mice

2012· article· en· W1501704066 on OpenAlexaff
Grace Tharmarajah, Laura Faas, Karina Reiß, Paul Säftig, Antony R. Young, Catherine D. Van Raamsdonk

Bibliographic record

VenuePigment Cell & Melanoma Research · 2012
Typearticle
Languageen
FieldMedicine
TopicHair Growth and Disorders
Canadian institutionsUniversity of British Columbia
FundersDeutsche Forschungsgemeinschaft
KeywordsHairlessHaploinsufficiencyBiologyHair follicleMutationEpidermis (zoology)MelanocyteHair cycleGeneticsCell biologyPhenotypeGeneAnatomy

Abstract

fetched live from OpenAlex

The Hairless nuclear receptor co-repressor is required for hair follicle regeneration during the hair cycle. The classical Hairless(Hr) /Hairless(Hr) mouse mutant loses all hair between 2 and 3 weeks of age. As the mice age, their trunk skin develops epidermal pigmentation, a feature of human skin which is not found in normal haired mice. In this report, we present a new, dominant mouse mutation, Pied, which arose within a colony of Hairless(Hr) /Hairless(Hr) mice and causes freckle-like macules on the skin. The Pied macules require Hairless(Hr) homozygosity to form and are composed of localized clusters of epidermal melanocytes. Through linkage analysis, we find that the Pied mutation is a 1914 base pair loss-of-function deletion in the Adam10 zinc metalloprotease gene. The pathways that specifically maintain long-term pigmentation patterns in adults are not well understood. We have identified Adam10 as an inhibitor of melanocyte expansion in adult skin.

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)0.002
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.565
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.001

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 head0.056
GPT teacher head0.347
Teacher spread0.291 · 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 designObservational
Domainnot available
GenreEmpirical

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

Citations18
Published2012
Admission routes1
Has abstractyes

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