{"id":"W4403455461","doi":"10.1016/j.ajhg.2024.09.006","title":"MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway","year":2024,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Alberta Children's Hospital","funders":"National Key Research and Development Program of China; Beijing Municipal Bureau of Finance; Natural Science Foundation of Beijing Municipality; National Natural Science Foundation of China; Chinese Academy of Sciences; National Science Foundation","keywords":"Wnt signaling pathway; Downregulation and upregulation; Autism spectrum disorder; Catenin; Signal transduction; Beta-catenin; DKK1; Cell biology; Autism; Cancer research; Genetics; Medicine; Biology; Psychiatry; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001988056,0.00161601,0.0004513515,0.001033989,0.0006262661,0.000649484,0.0005577584,0.001870522,0.00493252],"category_scores_gemma":[0.0007223475,0.0003870975,0.0007162672,0.0005577711,0.0006023757,0.0002935427,0.0005442823,0.0006772514,0.0008806029],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003536016,"about_ca_system_score_gemma":0.0002869052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002406213,"about_ca_topic_score_gemma":0.003444786,"domain_scores_codex":[0.9995824,0.00004833981,0.00005248053,0.0001536808,0.000117729,0.00004552201],"domain_scores_gemma":[0.9995635,0.00009525609,0.0002073863,0.00002609462,0.00003285922,0.00007489954],"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":[0.003003464,0.0002155286,0.08172134,0.0003158749,0.0008983336,0.0660281,0.0005818846,0.001743048,0.8198125,0.004627106,0.004788531,0.01626437],"study_design_scores_gemma":[0.0007043351,0.0007280728,0.5338532,0.0002817688,0.002233957,0.2139343,0.0007442802,0.009053079,0.19566,0.006550088,0.03602457,0.000232275],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9871,0.001696622,0.002807196,0.0008708276,0.0002090428,0.00003661864,0.001684015,0.0002482286,0.005347564],"genre_scores_gemma":[0.9953321,0.0002638571,0.001353789,0.0002881833,0.00008258582,0.00002079702,0.0006140813,0.00007492265,0.001969778],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00493252,"threshold_uncertainty_score":0.01650095,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02807162972087166,"score_gpt":0.3002226342437015,"score_spread":0.2721510045228298,"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."}}