{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.002418482,0.0001985665,0.0008052911,0.0004065752,0.0000618613,0.0000517107,0.0001002295,0.0002860379,0.00005186633],"category_scores_gemma":[0.01560831,0.0001563447,0.0002209131,0.0006379575,0.0000929522,0.0006812726,0.00001649989,0.0009215301,0.00001672742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002134469,"about_ca_system_score_gemma":0.0004101619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000769332,"about_ca_topic_score_gemma":0.00003556207,"domain_scores_codex":[0.9962838,0.0004505416,0.002092546,0.0003066688,0.0006074921,0.0002589323],"domain_scores_gemma":[0.9963424,0.000757604,0.001381065,0.0002562308,0.0008063699,0.0004562888],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003270917,0.001877746,0.945161,0.0001200548,0.0008410504,0.003710066,0.008332688,0.0009842779,0.008567126,0.0002707059,0.01305512,0.01380925],"study_design_scores_gemma":[0.00531395,0.003065674,0.9737043,0.001001613,0.000291313,0.001072099,0.0004433008,0.001604469,0.009845363,0.003072187,0.0003435737,0.0002421365],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958666,0.0001038586,0.0006363244,0.001846491,0.0005006976,0.0003864881,0.000002343733,0.00002705349,0.0006301648],"genre_scores_gemma":[0.9945235,0.00002422895,0.003109504,0.001976609,0.0002036938,0.000009824254,0.00001254395,0.00002943243,0.0001106763],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02854332,"threshold_uncertainty_score":0.9926836,"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."}}