{"id":"W4414123292","doi":"10.3390/dermatopathology12030030","title":"Mimicking the LOX-Related Autosomal Recessive Congenital Ichthyosis Skin Disease Using a CRISPR-Cas9 System and Unravelling 12S-LOX Function in the Skin","year":2025,"lang":"en","type":"article","venue":"Dermatopathology","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre hospitalier de l'Université Laval","funders":"Fonds de Recherche du Québec - Santé","keywords":"Epidermis (zoology); Congenital ichthyosis; Ichthyosis; Human skin; Disease; Atopic dermatitis; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003499912,0.0001641079,0.000156935,0.00008980219,0.0002381685,0.00006051467,0.0001677041,0.0001678619,0.000004316238],"category_scores_gemma":[0.00005625571,0.0001170063,0.00006267045,0.0001857548,0.0001187468,0.000009503732,0.00008919404,0.0001580873,0.000003805967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002864285,"about_ca_system_score_gemma":0.00006202855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000352577,"about_ca_topic_score_gemma":0.00003164475,"domain_scores_codex":[0.998492,0.0005230107,0.0003192808,0.0003360796,0.00009859934,0.0002310061],"domain_scores_gemma":[0.9994586,0.0000628769,0.0001237295,0.0002695509,0.00004880941,0.00003645994],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001281374,0.0003684479,0.2785611,0.0007166888,0.0004850097,0.001068382,0.009842868,0.002515623,0.6845705,0.01015081,0.001455133,0.00898407],"study_design_scores_gemma":[0.009771592,0.0005217628,0.636865,0.0008380847,0.001873679,0.005922767,0.04124694,0.07058735,0.2201965,0.002502075,0.007730687,0.001943577],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989627,0.001918151,0.006737649,0.0004044937,0.0004703244,0.0003465474,0.0000107334,0.00001492993,0.0004701676],"genre_scores_gemma":[0.9988695,0.00007024212,0.00009291034,0.0007010411,0.0000800537,0.00004463697,0.00007629629,0.00001324719,0.00005211719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4643739,"threshold_uncertainty_score":0.477138,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0088192594064101,"score_gpt":0.2541727914973783,"score_spread":0.2453535320909682,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}