{"id":"W4404006819","doi":"10.1101/2024.11.01.621496","title":"Defective Neuronal Differentiation in Lowe Syndrome is Associated with Mitochondrial Dysfunction and Impaired Cilia-related Sonic Hedgehog Signaling","year":2024,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; University of California, San Francisco; National Institutes of Health; Children's Health Research Institute; Research to Prevent Blindness","keywords":"Cilium; Hedgehog; Neurogenesis; Sonic hedgehog; Mitochondrion; Cell biology; Hedgehog signaling pathway; Biology; Neuroscience; Anatomy; Endocrinology; Signal transduction","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009526109,0.0003254085,0.0002195061,0.0006304769,0.0001327664,0.0001963778,0.0001107283,0.0002927001,0.001622003],"category_scores_gemma":[0.0001939295,0.0001246934,0.0001396518,0.0002035659,0.0002332034,0.0001003398,0.0002702742,0.0003017137,0.0004091006],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001772089,"about_ca_system_score_gemma":0.0001094394,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000728681,"about_ca_topic_score_gemma":0.001170891,"domain_scores_codex":[0.9999321,0.00001117033,0.000009422178,0.00001362144,0.00002453787,0.000009144908],"domain_scores_gemma":[0.9999294,0.00001476666,0.00001766411,0.000008128664,0.000007063243,0.00002294855],"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":[0.0002291488,0.00003393686,0.00853695,0.00009049508,0.00004256042,0.007534666,0.00009091305,0.0002058193,0.9761599,0.0005467036,0.0004957241,0.006033158],"study_design_scores_gemma":[0.00007182223,0.0001897709,0.1043138,0.00003361181,0.00009445717,0.03397048,0.0001935483,0.00269071,0.8488456,0.001187791,0.008393094,0.00001523028],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935538,0.0008173571,0.002817465,0.0001961165,0.00002515511,0.00001264409,0.0005461877,0.0001133811,0.001918003],"genre_scores_gemma":[0.994405,0.0006857541,0.00181422,0.00008033774,0.00001127621,0.00001324391,0.0005491271,0.00002829937,0.002412674],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001622003,"threshold_uncertainty_score":0.005426109,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00844106974366278,"score_gpt":0.1979906189804055,"score_spread":0.1895495492367427,"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."}}