{"id":"W2118104298","doi":"10.4172/1747-0862.1000013","title":"Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations","year":2005,"lang":"en","type":"article","venue":"Journal of Molecular and Genetic Medicine","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Canadian Institutes of Health Research; Royal Golden Jubilee (RGJ) Ph.D. Programme; Thailand Research Fund; National Center for Genetic Engineering and Biotechnology; National Science and Technology Development Agency","keywords":"Mutant; Distal renal tubular acidosis; Biology; Renal tubular acidosis; Apical membrane; Mutation; Genetics; Wild type; Intercalated Cell; Epithelial polarity; Molecular biology; Gene; Kidney; Cell; Acidosis","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":[0.0002568536,0.001045482,0.0004017241,0.0009658598,0.0002362764,0.000458919,0.0005885453,0.0009038665,0.001716305],"category_scores_gemma":[0.0002235572,0.0002634673,0.0004237858,0.000283301,0.0005698394,0.0003722643,0.0005382015,0.0003791504,0.0005253784],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000490365,"about_ca_system_score_gemma":0.0002170911,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007144538,"about_ca_topic_score_gemma":0.0004910434,"domain_scores_codex":[0.9997471,0.00004342369,0.00003439489,0.00004953261,0.00008573147,0.00003976578],"domain_scores_gemma":[0.9998279,0.00002337063,0.00007705951,0.00001132623,0.00001693777,0.00004340509],"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":[0.0004651998,0.00007326956,0.005521744,0.0002836721,0.00006176991,0.01104829,0.0001103498,0.0005866715,0.9713141,0.002411745,0.0004944601,0.007628662],"study_design_scores_gemma":[0.0004280534,0.001232038,0.1314434,0.0001574008,0.0004676116,0.1470539,0.0004560307,0.008412197,0.6796533,0.005297069,0.0252555,0.0001434463],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820853,0.008553511,0.004146801,0.0003885133,0.00005740253,0.00007431946,0.0006510501,0.0003529469,0.003690315],"genre_scores_gemma":[0.9887899,0.005717673,0.002023945,0.0001709807,0.00002999009,0.0000773326,0.0005488992,0.00003096514,0.002610472],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001716305,"threshold_uncertainty_score":0.005741656,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004055345848877312,"score_gpt":0.2253309202993225,"score_spread":0.2212755744504452,"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."}}