Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of theSPINK1gene-Reference-Cited by-同舟云学术

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of theSPINK1gene

Published:2017-10-12 Issue:12 Volume:38 Page:1660-1665
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Venet Théa¹,Masson Emmanuelle²³,Talbotec Cécile⁴,Billiemaz Kareen¹,Touraine Renaud⁵,Gay Claire⁶,Destombe Sylvie⁶,Cooper David N.⁷,Patural Hugues¹,Chen Jian-Min²⁸⁹^ORCID,Férec Claude²³⁸⁹

Affiliation:

1. Service de Réanimation Pédiatrique; CHU-Hôpital Nord; Saint-Étienne France

2. Institut National de la Santé et de la Recherche Médicale (INSERM); U1078 Brest France

3. Laboratoire de Génétique Moléculaire et d'Histocompatibilité; Centre Hospitalier Régional Universitaire (CHRU) Brest; Hôpital Morvan; Brest France

4. Service de Gastroentérologie Hépatologie et Nutrition pédiatriques; Hôpital Necker Enfants Malades; Paris France

5. Service de Génétique; CHU-Hôpital Nord; Saint-Étienne France

6. Service de Pédiatrie; CHU-Hôpital Nord; Saint-Étienne France

7. Institute of Medical Genetics; School of Medicine; Cardiff University; Cardiff UK

8. Etablissement Français du Sang (EFS) - Bretagne; Brest France

9. Faculté de Médecine et des Sciences de la Santé; Université de Bretagne Occidentale (UBO); Brest France

Funder

Conseil Régional de Bretagne

Association des Pancréatites Chroniques Héréditaires

Association de Transfusion Sanguine et de Biogénétique Gaetan Saleun

Institut National de la Santé et de la Recherche Médicale

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Mutations in SBDS are associated with Shwachman-Diamond syndrome;Boocock;Nature Genetics,2003

2. Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype;Boulling;Human Mutation,2017

3. Physiopathologie de l'insuffisance pancréatique exocrine et ses implications thérapeutiques;Buscail;Hépato-Gastro & Oncologie Digestive,2010

4. Chronic pancreatitis: Genetics and pathogenesis;Chen;Annual Review of Genomics and Human Genetics,2009

5. A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: General principles and overview;Chen;Human Genetics,2006

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism;The American Journal of Human Genetics;2024-09

2. Pancreas-directed AAV8 -hSPINK1 gene therapy safely and effectively protects against pancreatitis in mice;Gut;2024-03-29

3. Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants;Human Genomics;2024-02-27

4. Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possibleSPINK1coding variants;2023-11-14

5. Intrapancreatic fat, pancreatitis, and pancreatic cancer;Cellular and Molecular Life Sciences;2023-07-15