{"id":"W6983657232","doi":"","title":"Mutations in the 'insertion in fingers domain' of human telomerase reverse transcriptase impair recruitment to telomeres, lead to growth defects and potentially contribute to premature aging disease phenotypes","year":2016,"lang":"en","type":"dissertation","venue":"eScholarship@McGill (McGill)","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Fonds de Recherche du Québec - Santé; University of Georgia; University of North Carolina at Chapel Hill; Université de Montréal; University of Colorado Boulder; McGill University","keywords":"Telomere; Telomerase; Shelterin; Reverse transcriptase; Somatic cell; Telomerase reverse transcriptase; Premature aging; Phenotype; DNA damage","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":[0.0001154284,0.0004117052,0.0002062051,0.0002137991,0.0001186907,0.0001369564,0.0001974742,0.0002265536,0.001037868],"category_scores_gemma":[0.000137249,0.00009380697,0.0003107355,0.0001384764,0.0001986663,0.000104217,0.0001530302,0.0003215217,0.0003532665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001359668,"about_ca_system_score_gemma":0.0001685405,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004491893,"about_ca_topic_score_gemma":0.0007843437,"domain_scores_codex":[0.9999136,0.00001209254,0.00001464098,0.0000200171,0.00002662658,0.00001312432],"domain_scores_gemma":[0.9998572,0.0000375307,0.00005708658,0.00001299802,0.000007485737,0.00002762968],"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":[0.00009432781,0.00002906901,0.0006424667,0.00003923837,0.00001044075,0.000239854,0.00001160025,0.0001083371,0.9961274,0.00006884518,0.00002517879,0.002603256],"study_design_scores_gemma":[0.00001854419,0.0002852582,0.01256799,0.0000102528,0.0000362477,0.002606538,0.00003155924,0.0008191118,0.9801828,0.00005911125,0.00337285,0.000009796755],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995675,0.0008299997,0.002429524,0.00002701049,0.00001644783,0.00002658953,0.0005297163,0.00004589012,0.0004197248],"genre_scores_gemma":[0.9955428,0.0004173183,0.002464583,0.0000166026,0.000004690649,0.00001740841,0.0006206505,0.00001395354,0.0009018448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001037868,"threshold_uncertainty_score":0.00347203,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02182136526490296,"score_gpt":0.2804138862110072,"score_spread":0.2585925209461042,"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."}}