{"id":"W2891921574","doi":"10.1172/jci98688","title":"Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome","year":2018,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":144,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; Harvard Stem Cell Institute; National Institutes of Health; Deutsche Akademie der Naturforscher Leopoldina - Nationale Akademie der Wissenschaften; National Heart, Lung, and Blood Institute; King Saud University; Deutsche Forschungsgemeinschaft; Higher Education Commision, Pakistan; Universität zu Köln; Boston Children's Hospital; Kidney Foundation of Canada; European Commission; Academy of Medical Sciences; Institut des maladies génétiques Imagine; Yale University; Canadian Society of Nephrology; National Human Genome Research Institute; Agence Nationale de la Recherche; Canadian Institutes of Health Research; American Society of Nephrology; University of Michigan","keywords":"Biology; Gene knockdown; Phenotype; Nuclear pore; Morpholino; Nucleoporin; Zebrafish; Nephrotic syndrome; Mutation; Genetics; Allele; Gene; Cell biology; Cancer research; Nuclear transport; Cell nucleus; Cytoplasm; Endocrinology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005874637,0.00007142238,0.0003721147,0.00009482924,0.00005243835,0.000009584694,0.000106428,0.00007277013,0.00005751743],"category_scores_gemma":[0.002347353,0.00004521126,0.000216574,0.0002532725,0.0006374101,0.0001175395,0.00003041826,0.0002739844,0.00001214159],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002403376,"about_ca_system_score_gemma":0.0001336722,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000338044,"about_ca_topic_score_gemma":0.00001789354,"domain_scores_codex":[0.9980593,0.0001944575,0.001228671,0.00008217542,0.0003422691,0.00009312209],"domain_scores_gemma":[0.9982344,0.0002940092,0.0007888544,0.0001609562,0.0003442781,0.0001775239],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003713043,0.0004463652,0.9878417,0.0001188927,0.0001156058,0.000101332,0.0004434729,0.00008351049,0.007853411,0.0003208838,0.001514137,0.0007894307],"study_design_scores_gemma":[0.001672933,0.000588747,0.9911994,0.0005835226,0.0001304095,0.0001935435,0.0001112023,0.00305331,0.0001280547,0.00183757,0.000458933,0.00004237623],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965161,0.00004039423,0.00001218614,0.002906069,0.0002709533,0.0001595617,0.000006436178,0.000004347237,0.00008397037],"genre_scores_gemma":[0.997682,0.00002652083,0.001086267,0.0009730026,0.0001890766,6.167339e-7,0.000009209928,0.000009338044,0.00002398301],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007725356,"threshold_uncertainty_score":0.281017,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.157321508517077,"score_gpt":0.3829316394708059,"score_spread":0.2256101309537288,"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."}}