Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis-Reference-Cited by-同舟云学术

Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis

Published:2021-12-28 Issue:2 Volume:43 Page:228-239
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Hamada Shin¹,Masson Emmanuelle²³,Chen Jian‐Min²^ORCID,Sakaguchi Reiko⁴⁵,Rebours Vinciane⁶,Buscail Louis⁷,Matsumoto Ryotaro¹,Tanaka Yu¹,Kikuta Kazuhiro¹,Kataoka Fumiya¹,Sasaki Akira¹,Le Rhun Marc⁸,Audin Hela⁹,Lachaux Alain¹⁰,Caumont Bernard¹¹,Lorenzo Diane¹²,Billiemaz Kareen¹³,Besnard Raphael¹⁴,Koch Stéphane¹⁵,Lamireau Thierry¹⁶,De Koninck Xavier¹⁷,Génin Emmanuelle²,Cooper David N.¹⁸,Mori Yasuo⁴,Masamune Atsushi¹,Férec Claude²³,

Affiliation:

1. Division of Gastroenterology Tohoku University Graduate School of Medicine Sendai Japan

2. Univ Brest, Inserm, EFS, UMR 1078, GGB Brest France

3. Service de Génétique Médicale et de Biologie de la Reproduction CHRU Brest Brest France

4. Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering Kyoto University Kyoto Japan

5. Institute for Integrated Cell‐Material Sciences Kyoto University Kyoto Japan

6. Department of Gastroenterology and Pancreatology, Beaujon Hospital, Assistance Publique‐Hôpitaux de Paris, Clichy Université de Paris Paris France

7. Department of Gastroenterology and Pancreatology CHU Rangueil and University of Toulouse Toulouse France

8. Service d'Hépato‐Gastroentérologie et Assistance Nutritionnelle, Institut des Maladies de l'Appareil Digestif (IMAD) Centre Hospitalo‐Universitaire (CHU) Nantes France

9. Médecine ‘Chauvet’ à Orientation Gastro‐Entérologique CH Gabriel Martin Saint Paul France

10. Hospices Civils de Lyon, Department of Pediatric Hepato‐Gastroenterology Hôpital Femme Mere Enfant and Lyon 1 University Faculty of Medicine Lyon East France

11. Service de Médecine à Orientation Hépato‐Gastro‐Entérologique CH Sud Gironde Langon France

12. Department of Digestive Endoscopy Beaujon Hospital, APHP, Clichy, and Paris‐Diderot University Paris France

13. Service de Réanimation Pédiatrique CHU‐Hôpital Nord Saint‐Étienne France

14. Service d'Hépato‐Gastro‐Entérologie et Oncologie Digestive CHR Orléans Orléans France

15. Department of Gastroenterology University Hospital of Besançon Besançon France

16. Pediatric Hepatology and Gastroenterology Unit, Bordeaux University Hospital Pellegrin‐Enfants Hospital Bordeaux France

17. Division of Gastroenterology Clinique Saint‐Pierre Ottignies Belgium

18. Institute of Medical Genetics, School of Medicine Cardiff University Cardiff UK

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24315

Reference42 articles.

1. Chronic pancreatitis

2. Functional Analysis of Eight Missense Mutations in the SPINK1 Gene

3. The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis

4. Chronic Pancreatitis: Genetics and Pathogenesis

5. Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

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1. A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis;Pediatric Investigation;2023-10-21

2. Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis;Pancreatology;2023-08

3. A case of early-onset idiopathic chronic pancreatitis associated with a loss-of-function TRPV6 p.R483Q variant successfully treated by pancreatic duct stenting;Clinical Journal of Gastroenterology;2023-04-29

4. A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis;Frontiers in Genetics;2023-01-09

5. Genetic Testing in Acute and Chronic Pancreatitis;Current Treatment Options in Gastroenterology;2022-07-04