{"id":"W4384024096","doi":"10.1093/brain/awad231","title":"Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Fondation Jérôme Lejeune; National Institute for Health and Care Research; Newlife the Charity for Disabled Children; Wellcome Trust; National Institute of Neurological Disorders and Stroke; Wellcome","keywords":"Phenotype; Cognition; Neuroscience; PI3K/AKT/mTOR pathway; Signalling; Psychology; Medicine; Biology; Genetics; Signal transduction; Cell biology; 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":[0.0002023921,0.001072574,0.0003840203,0.001192923,0.0003366794,0.0003938173,0.0004988763,0.0006253499,0.00375869],"category_scores_gemma":[0.0002667198,0.0002537063,0.0004855794,0.0004580454,0.0009127464,0.0003745501,0.0005806717,0.0009730431,0.0008201473],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004418854,"about_ca_system_score_gemma":0.0003090073,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001133808,"about_ca_topic_score_gemma":0.002717097,"domain_scores_codex":[0.99968,0.00005066233,0.00004738646,0.00009072688,0.00008918802,0.00004203047],"domain_scores_gemma":[0.9997193,0.0000429884,0.0001432041,0.00002526281,0.00001549632,0.00005365286],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0004843754,0.0001254025,0.001897733,0.0001756511,0.00005751379,0.002134457,0.00007532174,0.0003585201,0.9867103,0.000898328,0.0006544487,0.006427976],"study_design_scores_gemma":[0.0002160119,0.001985214,0.04602424,0.0001533716,0.000254157,0.02993732,0.0002256672,0.003053771,0.8972915,0.001220793,0.01956308,0.00007488932],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9746376,0.002133022,0.01174869,0.0004645693,0.0001205442,0.0002447494,0.003960179,0.0009406604,0.005749927],"genre_scores_gemma":[0.9751902,0.002594602,0.0125998,0.0003005805,0.00003917754,0.0002762115,0.003155804,0.0002464675,0.005597178],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00375869,"threshold_uncertainty_score":0.01257408,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0128203360246395,"score_gpt":0.2408878517638417,"score_spread":0.2280675157392022,"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."}}