{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002197871,0.0004747597,0.0002698244,0.0003415734,0.0002058662,0.0002726743,0.0002995441,0.000486435,0.002893183],"category_scores_gemma":[0.0003076788,0.0001743286,0.0003676558,0.000221824,0.0005069412,0.0001275037,0.0003022544,0.0005300582,0.0004222431],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004205766,"about_ca_system_score_gemma":0.0001780839,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001912037,"about_ca_topic_score_gemma":0.002458598,"domain_scores_codex":[0.9996959,0.00006202103,0.00003651937,0.00006171988,0.00009431724,0.00004959715],"domain_scores_gemma":[0.999818,0.00005207059,0.00005009314,0.00002774435,0.00001490934,0.00003725398],"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":[0.0002826553,0.0000242085,0.0005978064,0.00001907086,0.00002522241,0.0003747025,0.00001809283,0.000154535,0.9965199,0.0003133708,0.0000851915,0.001585269],"study_design_scores_gemma":[0.00006371046,0.0003829408,0.01231022,0.000008288149,0.0000884404,0.005076798,0.00004825763,0.002159718,0.9762611,0.000356625,0.003223464,0.00002046877],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927147,0.0009634533,0.004086272,0.0001634036,0.00004105674,0.00003054542,0.0006938541,0.00008323291,0.001223356],"genre_scores_gemma":[0.9951126,0.0003452995,0.00249936,0.00007585144,0.00001330341,0.00002057292,0.0005757585,0.000049554,0.001307745],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002893183,"threshold_uncertainty_score":0.009678662,"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."}}