{"id":"W3139366101","doi":"10.1016/j.celrep.2021.108862","title":"Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation","year":2021,"lang":"en","type":"article","venue":"Cell Reports","topic":"Receptor Mechanisms and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":87,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Institute for Research in Immunology and Cancer","funders":"Horizon 2020; Medical Research Council; Canadian Institutes of Health Research; Université de Montréal; Queen's University; Canada Research Chairs; Horizon 2020 Framework Programme; Novo Nordisk Fonden; Queen's University Belfast; NIHR Cambridge Biomedical Research Centre; Fondation Botnar; European Commission; Diabetes UK; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; National Institute for Health and Care Research; American Lebanese Syrian Associated Charities; Lister Institute of Preventive Medicine; Wellcome Trust; Department for the Economy; European Molecular Biology Organization","keywords":"Internalization; Endocytosis; Cell biology; Melanocortin 4 receptor; Biology; Mutation; Intracellular; Receptor; Genetics; Gene; Melanocortin","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":[0.0003887136,0.0001689517,0.000196856,0.00005937394,0.0001346436,0.00004956765,0.00004517908,0.000188605,0.00005416011],"category_scores_gemma":[0.0000791876,0.0001844973,0.00006576027,0.0001277758,0.00001589887,0.00001084358,0.000072705,0.00009059139,6.510468e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002177567,"about_ca_system_score_gemma":0.00005218709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001794912,"about_ca_topic_score_gemma":0.00004001469,"domain_scores_codex":[0.9985541,0.000114884,0.0003963864,0.000555067,0.0001527827,0.000226856],"domain_scores_gemma":[0.9993284,0.00001227658,0.0002160984,0.0003028465,0.00006718022,0.00007318144],"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":[0.000006790273,0.00004144067,0.002080413,0.0000396192,0.0000119245,0.0001585781,0.0000846726,0.0005356095,0.9965675,0.00009798539,0.00002735073,0.0003481087],"study_design_scores_gemma":[0.000382549,0.00005424148,0.001051487,0.00005584272,0.00002167503,0.00004149405,0.00008418869,0.0009966292,0.9961897,0.0006144857,0.000298964,0.000208761],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9603272,0.001014087,0.03790187,0.00001276934,0.0002830191,0.0002059954,0.000001467772,0.00001884438,0.0002347463],"genre_scores_gemma":[0.9957382,0.0001046088,0.003315182,0.00003562039,0.0001245797,0.00001692225,0.0003545212,0.00003433348,0.0002760036],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03541103,"threshold_uncertainty_score":0.7523582,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009983255968206754,"score_gpt":0.2198144742638118,"score_spread":0.209831218295605,"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."}}