{"id":"W4402091035","doi":"10.1038/s41598-024-71159-y","title":"Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling","year":2024,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; University of Alberta","funders":"Canadian Institutes of Health Research; Alberta Innovates; Natural Sciences and Engineering Research Council of Canada; Göteborgs Universitet; University of Toronto; National University of Singapore; University of Alberta; Alberta Innovates - Health Solutions; Women and Children's Health Research Institute; Children's Health Research Institute","keywords":"Cilium; Biology; Ciliogenesis; GLI2; Phenotype; Cell biology; Intraflagellar transport; Ciliopathies; Transcription factor; Wnt signaling pathway; Hedgehog signaling pathway; Signal transduction; GLI1; Ciliopathy; Hedgehog; Genetics; Mutant; Gene","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":[0.0002858154,0.0007045047,0.0004329574,0.0006656044,0.0003698889,0.0002704508,0.0002288359,0.0005130182,0.002183601],"category_scores_gemma":[0.0002907235,0.0001851346,0.0003811169,0.0002320983,0.0006679677,0.0001653512,0.0006854871,0.0004887152,0.0001717309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003291364,"about_ca_system_score_gemma":0.0003978888,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008465976,"about_ca_topic_score_gemma":0.001854043,"domain_scores_codex":[0.9996887,0.00004387328,0.0000336888,0.00008994455,0.00009770934,0.00004601982],"domain_scores_gemma":[0.9996904,0.00006844285,0.000116524,0.00003207604,0.00001744694,0.00007509996],"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":[0.0002616851,0.00002072475,0.006344272,0.00006725996,0.00002579436,0.0040087,0.00007421669,0.0001845548,0.9862017,0.0004584647,0.00008005781,0.002272679],"study_design_scores_gemma":[0.00007301664,0.0005658276,0.1485073,0.00004232183,0.0001679875,0.03965452,0.0002259433,0.003033638,0.8022248,0.0007891019,0.00466902,0.00004643443],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954394,0.0006821812,0.00221584,0.0001404904,0.00001990814,0.00001794195,0.0003212214,0.0001085533,0.001054438],"genre_scores_gemma":[0.9977145,0.0003198427,0.00108808,0.00004548603,0.00000648583,0.00001024537,0.0001235716,0.00002646202,0.0006653887],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002183601,"threshold_uncertainty_score":0.007304907,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01010955608754671,"score_gpt":0.241560210423812,"score_spread":0.2314506543362653,"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."}}