{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002743532,0.0004180797,0.0003023017,0.0003352942,0.0001687118,0.0004125835,0.0003956085,0.0006799949,0.001243665],"category_scores_gemma":[0.0002438947,0.0002091392,0.000488364,0.0001756611,0.0003775123,0.0002510432,0.0004332784,0.0009781283,0.0004236014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002454715,"about_ca_system_score_gemma":0.0002949417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008816477,"about_ca_topic_score_gemma":0.0009782251,"domain_scores_codex":[0.9997291,0.00003588464,0.00004211848,0.00006557332,0.00008758778,0.00003982211],"domain_scores_gemma":[0.999824,0.00003743958,0.00005357681,0.00003307146,0.00001481573,0.0000371551],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005394794,0.0000263141,0.0001754691,0.00006051991,0.000008603719,0.0002698146,0.00002937163,0.0003386701,0.99683,0.0004577129,0.00006700778,0.001682482],"study_design_scores_gemma":[0.00003963483,0.0004551977,0.00261556,0.00003074849,0.00006093069,0.00247842,0.00007752,0.007327854,0.9759113,0.0003756361,0.01060072,0.00002648634],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9314196,0.002072544,0.05914712,0.0002895363,0.0001877835,0.0002860188,0.001123893,0.0008381824,0.004635405],"genre_scores_gemma":[0.9676335,0.00128544,0.0256835,0.00008620257,0.00001108739,0.0001619472,0.0008026221,0.00009330307,0.004242325],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001243665,"threshold_uncertainty_score":0.004160404,"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."}}