{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Masamune A"],"funding":["Else Kröner-Fresenius-Zentrum für Ernährungsmedizin","Association des Pancréatites Chroniques Héréditaires","Deutsche Forschungsgemeinschaft","Else Kröner-Fresenius-Foundation","Japan Agency for Medical Research and Development","National Natural Science Foundation of China","Institut National de la Santé et de la Recherche Médicale","Association Gaétan Saleün, France","DBT/Wellcome Trust India Alliance"],"pagination":["207-221"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12924865"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["61(2)"],"pubmed_abstract":["<h4>Background</h4>The transient receptor potential cation channel subfamily V member 6 (TRPV6) gene, encoding a calcium-selective ion channel, was recently identified as a susceptibility gene for pancreatitis. This study aimed to clarify the natural history of TRPV6-related pancreatitis and the impact of pancreas-specific deletion of Trpv6 on pancreatitis in mice.<h4>Methods</h4>Clinical information of the patients carrying functionally impaired TRPV6 variants, defined by Ca<sup>2+</sup> imaging and minigene assays, was collected from six international centers. Cumulative rates were assessed using Kaplan-Meier analysis. As controls, Japanese patients with alcohol-unrelated pancreatitis carrying pathogenic variants in PRSS1 or SPINK1, as well as those without pathogenic variants in pancrea"],"journal":["Journal of gastroenterology"],"pubmed_title":["TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice."],"pmcid":["PMC12924865"],"funding_grant_id":["DFG WI 2036/3-1","21ek0109550h0001","2022-EKFZ-Witt","82120108006","IA/M/16/1/502","2017_A108 - EKFZ-Witt","2017_A108 – EKFZ-Witt"],"pubmed_authors":["Hatta W","Mori Y","Oracz G","Takikawa T","Hamada S","Zou WB","Niihori T","Rosendahl J","Chen JM","Masamune A","Kurien RT","Chowdhury SD","Jie R","Aoki Y","Liao Z","Sekino Y","Visweswariah SS","Kikuta K","Matsumoto R","Masson E","Wang YC","Witt H","Rygiel AM","Hayashi H","Sakaguchi R","Ferec C","Rebours V","Nakasuji H","Abe T","Sasaki A","Xu Y","Buscail L"],"additional_accession":[]},"is_claimable":false,"name":"TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.","description":"<h4>Background</h4>The transient receptor potential cation channel subfamily V member 6 (TRPV6) gene, encoding a calcium-selective ion channel, was recently identified as a susceptibility gene for pancreatitis. This study aimed to clarify the natural history of TRPV6-related pancreatitis and the impact of pancreas-specific deletion of Trpv6 on pancreatitis in mice.<h4>Methods</h4>Clinical information of the patients carrying functionally impaired TRPV6 variants, defined by Ca<sup>2+</sup> imaging and minigene assays, was collected from six international centers. Cumulative rates were assessed using Kaplan-Meier analysis. As controls, Japanese patients with alcohol-unrelated pancreatitis carrying pathogenic variants in PRSS1 or SPINK1, as well as those without pathogenic variants in pancrea","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Feb","modification":"2026-07-16T15:09:22.72Z","creation":"2026-07-09T11:03:04.445Z"},"accession":"S-EPMC12924865","cross_references":{"pubmed":["41247519"],"doi":["10.1007/s00535-025-02323-y"]}}