{"id":"5943a6be-7674-532f-b850-415c793f3fbd","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:human-cldn16-magnesium-wasting","predicate":"increases","statement":"Human CLDN16 mutations were linked to renal magnesium wasting in the positional-cloning study.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"1ce57282-9d1d-5509-8a4c-641bc6484d23","mechanism_event_label":"A renal tight-junction protein is necessary for the kidney to retain magnesium normally.","subject":{"id":"6c5c44d3-ed76-533d-88f1-c7c290f0b37d","slug":"cldn16-loss-of-function-genotype","display_name":"CLDN16 loss-of-function genotype","entity_type_key":"gene"},"object":{"id":"a298b414-0e07-568d-a469-d8aa3e8b8c14","slug":"urinary-magnesium-excretion","display_name":"Urinary magnesium excretion","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"1ce57282-9d1d-5509-8a4c-641bc6484d23","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:human-cldn16-magnesium-wasting-event","event_type":"observed_intervention","label":"A renal tight-junction protein is necessary for the kidney to retain magnesium normally.","description":"Human CLDN16 mutations were linked to renal magnesium wasting in the positional-cloning study.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"b9e564ce-7834-5815-a22b-0aa555a7bfe4","slug":"cldn16","display_name":"Claudin-16","entity_type_key":"protein"},"role":"affected-tight-junction-protein","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"bff427ab-35f9-59c2-bb24-fd5953bbaec2","slug":"magnesium-ion","display_name":"Mg2+","entity_type_key":"ion"},"role":"lost-ion","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"66e1e9be-15e3-5431-9f49-b07ae3a99b5a","slug":"renal-magnesium-reabsorption","display_name":"Renal magnesium reabsorption","entity_type_key":"cellular_process"},"role":"impaired-process","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"6c5c44d3-ed76-533d-88f1-c7c290f0b37d","slug":"cldn16-loss-of-function-genotype","display_name":"CLDN16 loss-of-function genotype","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"a298b414-0e07-568d-a469-d8aa3e8b8c14","slug":"urinary-magnesium-excretion","display_name":"Urinary magnesium excretion","entity_type_key":"cellular_process"},"role":"object","stoichiometry":null,"state_label":"","sequence_order":4,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence-system","value_text":"Human familial positional genetics and kidney localization","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human familial positional genetics and kidney localization","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Establishes essential machinery; does not by itself identify a Mg-selective pore.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Magnesium research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"magnesium","display_name":"Magnesium","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A renal tight-junction protein is necessary for the kidney to retain magnesium normally.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[simon-1999-cldn16] Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption (1999). https://pubmed.ncbi.nlm.nih.gov/10390358/ DOI: 10.1126/science.285.5424.103","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue","value_text":"Renal thick ascending limb","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Renal thick ascending limb","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; 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Study references: [simon-1999-cldn16] Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption (1999). https://pubmed.ncbi.nlm.nih.gov/10390358/ DOI: 10.1126/science.285.5424.103","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"dd101e28-1a2e-5a48-9d1e-809c77514866","stable_key":"import-0f17db03-207f-5910-ac8e-13dfc2f378ce","title":"Magnesium: cross-nutrient mechanisms and deficiency (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"e111c412f57143a17e8e65e74e8f7888b5bb9a61099873f4767f527fac19bb07","revision_id":"6b7f04f2-66ed-5859-955f-c2b50d4bf041","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}