{"id":"W2150105325","doi":"10.1172/jci18589","title":"A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction","year":2003,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Growth Hormone and Insulin-like Growth Factors","field":"Medicine","cited_by":136,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Medical Research Council; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Fundação de Amparo à Pesquisa do Estado de São Paulo; Wellcome Trust","keywords":"Biology; Hypopituitarism; Haploinsufficiency; Genetics; Forebrain; Corepressor; Endocrinology; Repressor; Phenotype; Gene; Transcription factor","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":[0.0001295671,0.001286845,0.0003981812,0.0008163949,0.0003392853,0.0002441511,0.0004771849,0.0008211014,0.003145237],"category_scores_gemma":[0.0003260165,0.000281012,0.0003094368,0.0004232185,0.0008657788,0.0002209906,0.0005428205,0.0005221972,0.000501074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002656973,"about_ca_system_score_gemma":0.0002070985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006532002,"about_ca_topic_score_gemma":0.0006480116,"domain_scores_codex":[0.9998249,0.00001398563,0.00002245686,0.00006583892,0.00004375691,0.00002908662],"domain_scores_gemma":[0.9997532,0.00005742905,0.00008698928,0.00001547275,0.000007694753,0.00007914379],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006428169,0.0001542188,0.01653442,0.0001613742,0.000117242,0.4320322,0.0004563222,0.0003610265,0.5392987,0.001000592,0.0005156723,0.00872528],"study_design_scores_gemma":[0.0001047456,0.0008468045,0.1077713,0.00002975202,0.0001135388,0.7915064,0.0001864959,0.001312654,0.09360267,0.0003533566,0.004116425,0.00005592146],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972919,0.0002339613,0.0008613929,0.00008915808,0.0000227345,0.00002241245,0.0002872524,0.000126682,0.00106453],"genre_scores_gemma":[0.9973319,0.0001828226,0.0004981561,0.00003145062,0.00002705425,0.000009050379,0.0001934294,0.00002941131,0.001696681],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003145237,"threshold_uncertainty_score":0.01052189,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06938387433390723,"score_gpt":0.3538282214987097,"score_spread":0.2844443471648024,"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."}}