{"id":"W2087271731","doi":"10.1002/humu.20488","title":"Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity","year":2007,"lang":"en","type":"article","venue":"Human Mutation","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; Canadian Institutes of Health Research; National Institutes of Health; Research to Prevent Blindness","keywords":"Retinitis pigmentosa; Biology; Leucine zipper; Mutant; Transcription factor; Phosphorylation; Rhodopsin; Mutation; Molecular biology; Genetics; Gene isoform; Retinal degeneration; Basic helix-loop-helix leucine zipper transcription factors; Gene; Retinal; DNA-binding protein; Cell biology; Biochemistry","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":[0.00007137571,0.0005651272,0.0001118453,0.000207866,0.000135279,0.0001264054,0.0001936787,0.0003205751,0.001220059],"category_scores_gemma":[0.0001806968,0.0001080831,0.0002042127,0.0001027786,0.0003255885,0.0000846597,0.0001601231,0.0002198905,0.0004016204],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002059685,"about_ca_system_score_gemma":0.00009058273,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008342201,"about_ca_topic_score_gemma":0.0008020159,"domain_scores_codex":[0.9998819,0.000023852,0.00001530239,0.00003114616,0.00003024045,0.00001754731],"domain_scores_gemma":[0.9998719,0.0000225582,0.00006261776,0.00001348802,0.000006696302,0.00002280666],"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":[0.0001858651,0.00002518987,0.001995099,0.00002380534,0.00001977994,0.0009930365,0.00002576948,0.00009164819,0.9940069,0.00007442196,0.00008067364,0.002477818],"study_design_scores_gemma":[0.0001072139,0.0006885268,0.09137896,0.00002342156,0.0001386185,0.02265521,0.00009285357,0.002482842,0.8768945,0.0002658477,0.005242519,0.00002945464],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978973,0.0003241327,0.0008826266,0.00004206168,0.00001450638,0.000006342545,0.00023796,0.00006786505,0.000527195],"genre_scores_gemma":[0.9988621,0.0001362699,0.000461306,0.00003119622,0.000004754332,0.000004334578,0.0001384205,0.00001613381,0.0003454206],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001220059,"threshold_uncertainty_score":0.004081488,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01253793139031473,"score_gpt":0.2655843595349601,"score_spread":0.2530464281446453,"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."}}