{"id":"W2129815151","doi":"10.1093/hmg/ddt204","title":"Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital","funders":"Canadian Institutes of Health Research","keywords":"Dyskeratosis congenita; Telomerase; Telomere; Biology; SUMO protein; Telomerase RNA component; RNA; Genetics; Mutation; Gene; Cancer research; Cell biology; Telomerase reverse transcriptase; Ubiquitin","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":[0.000111947,0.0005798786,0.0002159412,0.0004577087,0.0001548698,0.0002109698,0.0001136946,0.0002694594,0.001603643],"category_scores_gemma":[0.0002570422,0.000134967,0.0001149047,0.0002202532,0.0002313765,0.0001027351,0.0002125914,0.0002487483,0.0003760893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001957973,"about_ca_system_score_gemma":0.0001452932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002662907,"about_ca_topic_score_gemma":0.0006707193,"domain_scores_codex":[0.9998612,0.00002323349,0.00002417897,0.00003681308,0.00003877587,0.00001570789],"domain_scores_gemma":[0.9998259,0.00003491544,0.0000827332,0.00001261797,0.000008683915,0.00003515024],"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":[0.0003185466,0.00009885575,0.01075688,0.00008985798,0.00005928221,0.004369931,0.00007512621,0.0002622537,0.9749669,0.0005119151,0.0003877963,0.008102624],"study_design_scores_gemma":[0.0001963727,0.0006467021,0.1940248,0.00004781896,0.0002172615,0.08293722,0.0001543852,0.002108569,0.7083697,0.0008234006,0.01044128,0.00003250361],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961209,0.0008200998,0.0009779823,0.00007433965,0.00001980002,0.00001261845,0.0001889791,0.0001004061,0.001684921],"genre_scores_gemma":[0.9977514,0.0003722353,0.0005975191,0.00003502737,0.00000900062,0.000005554039,0.0001828662,0.00001418395,0.001032178],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001603643,"threshold_uncertainty_score":0.005364716,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03870497683233534,"score_gpt":0.3095324037396238,"score_spread":0.2708274269072884,"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."}}