Novel p.K374E variant of causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance.
作者信息
Németh Balázs Csaba, Orekhova Anna, Zhang Wenying, Nortman Shannon A, Thompson Tyler, Hegyi Péter, Abu-El-Haija Maisam
机构信息
First Department of Medicine, University of Szeged, Szeged, Hungary.
Momentum Gastroenterology Multidisciplinary Research Group, Hungarian Academy of Sciences and University of Szeged, Szeged, Hungary.
出版信息
Gut. 2020 Apr;69(4):790-792. doi: 10.1136/gutjnl-2019-318751. Epub 2019 Apr 20.
Abstract
摘要
相似文献
1
Novel p.K374E variant of causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance.的新型p.K374E变体导致错误折叠诱导的常染色体显性遗传的遗传性胰腺炎。
Gut. 2020 Apr;69(4):790-792. doi: 10.1136/gutjnl-2019-318751. Epub 2019 Apr 20.
2
A novel p.Ser282Pro variant is associated with autosomal dominant hereditary pancreatitis.一种新的p.Ser282Pro变异与常染色体显性遗传性胰腺炎相关。
Gut. 2017 Sep;66(9):1728-1730. doi: 10.1136/gutjnl-2017-313816. Epub 2017 Mar 3.
3
Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.错误折叠的阳离子胰蛋白酶原变体p.L104P导致遗传性胰腺炎。
Gut. 2017 Sep;66(9):1727-1728. doi: 10.1136/gutjnl-2016-313451. Epub 2016 Dec 23.
4
Human mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.人类基因突变导致小鼠消化酶错误折叠和慢性胰腺炎。
Gut. 2019 Feb;68(2):301-312. doi: 10.1136/gutjnl-2018-315994. Epub 2018 Jul 25.
5
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.由人阳离子胰蛋白酶原突变诱导错误折叠引起的遗传性胰腺炎：一种新的疾病机制。
Hum Mutat. 2009 Apr;30(4):575-82. doi: 10.1002/humu.20853.
6
[Three cases of hereditary pancreatitis in two households in the same family associated with R122H mutation in cationic trypsinogen gene].同一家庭两户中的三例遗传性胰腺炎与阳离子胰蛋白酶原基因R122H突变相关
Korean J Gastroenterol. 2007 Jun;49(6):395-9.
7
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.人类阳离子胰蛋白酶原（PRSS1）突变与慢性胰腺炎
Hum Mutat. 2006 Aug;27(8):721-30. doi: 10.1002/humu.20343.
8
Mutation That Promotes Activation of Trypsinogen Increases Severity of Secretagogue-Induced Pancreatitis in Mice.促进胰蛋白酶原激活的突变可增加小鼠促分泌素诱导的胰腺炎的严重程度。
Gastroenterology. 2020 Mar;158(4):1083-1094. doi: 10.1053/j.gastro.2019.11.020. Epub 2019 Nov 18.
9
Misfolding-induced chronic pancreatitis in CPA1 N256K mutant mice is unaffected by global deletion of Ddit3/Chop.CPA1 N256K突变小鼠中错误折叠诱导的慢性胰腺炎不受Ddit3/Chop整体缺失的影响。
Sci Rep. 2022 Apr 15;12(1):6357. doi: 10.1038/s41598-022-09595-x.
10
Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis.p.L104P 人阳离子胰蛋白酶原变体在慢性胰腺炎中的致病细胞作用
Am J Physiol Gastrointest Liver Physiol. 2016 Apr 1;310(7):G477-86. doi: 10.1152/ajpgi.00444.2015. Epub 2016 Jan 28.
引用本文的文献
1
The 12-Year Experience of the Hungarian Pancreatic Study Group.匈牙利胰腺研究小组的12年经验。
J Clin Med. 2025 Feb 18;14(4):1362. doi: 10.3390/jcm14041362.
2
Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.疑似宫内胰腺炎病例中错折叠的PRSS1变体p.Ala61Val
Pancreatology. 2025 Feb;25(1):70-81. doi: 10.1016/j.pan.2024.12.013. Epub 2024 Dec 24.
3
SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.SEC16A 变异通过损害内质网到高尔基体的运输并诱导内质网应激导致慢性胰腺炎易感性。
Adv Sci (Weinh). 2024 Oct;11(38):e2402550. doi: 10.1002/advs.202402550. Epub 2024 Aug 9.
4
Reg4 deficiency aggravates pancreatitis by increasing mitochondrial cell death and fibrosis.Reg4 缺乏通过增加线粒体细胞死亡和纤维化来加重胰腺炎。
Cell Death Dis. 2024 May 20;15(5):348. doi: 10.1038/s41419-024-06738-y.
5
Pancreatic Diseases: Genetics and Modeling Using Human Pluripotent Stem Cells.胰腺疾病：遗传学与利用人类多能干细胞的建模
Int J Stem Cells. 2024 Aug 30;17(3):253-269. doi: 10.15283/ijsc24036. Epub 2024 Apr 26.
6
Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis.一种突变 PNLIP 变体的临床前小鼠模型可引发慢性胰腺炎。
Gut. 2023 Jul;72(7):1340-1354. doi: 10.1136/gutjnl-2022-327960. Epub 2023 Jan 11.
7
Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).与慢性胰腺炎相关的新型 p.G250A 突变突出了羧肽酶 A1（CPA1）中的错误折叠倾向区域。
Int J Mol Sci. 2022 Dec 7;23(24):15463. doi: 10.3390/ijms232415463.
8
Modelling chronic pancreatitis as a complex genetic disease in mice.将慢性胰腺炎模拟为小鼠中的复杂遗传疾病。
Gut. 2023 Feb;72(2):409-410. doi: 10.1136/gutjnl-2022-327601. Epub 2022 May 16.
本文引用的文献
1
Most unambiguous loss-of-function mutations are unlikely to predispose to chronic pancreatitis.大多数明确的功能丧失性突变不太可能引发慢性胰腺炎。
Gut. 2020 Apr;69(4):785-786. doi: 10.1136/gutjnl-2019-318564. Epub 2019 Mar 12.
2
Unfolding the mystery of digestive enzyme misfolding in chronic pancreatitis.
Gut. 2019 Feb;68(2):181-182. doi: 10.1136/gutjnl-2018-316985. Epub 2018 Aug 3.
3
Human mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.人类基因突变导致小鼠消化酶错误折叠和慢性胰腺炎。
Gut. 2019 Feb;68(2):301-312. doi: 10.1136/gutjnl-2018-315994. Epub 2018 Jul 25.
4
Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.慢性胰腺炎中的遗传风险：错误折叠依赖途径。
Curr Opin Gastroenterol. 2017 Sep;33(5):390-395. doi: 10.1097/MOG.0000000000000380.
5
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.在中国一个大型特发性慢性胰腺炎队列中，罕见的功能缺陷型CPA1变体未出现显著富集。
Hum Mutat. 2017 Aug;38(8):959-963. doi: 10.1002/humu.23254. Epub 2017 May 30.
6
A novel p.Ser282Pro variant is associated with autosomal dominant hereditary pancreatitis.一种新的p.Ser282Pro变异与常染色体显性遗传性胰腺炎相关。
Gut. 2017 Sep;66(9):1728-1730. doi: 10.1136/gutjnl-2017-313816. Epub 2017 Mar 3.
7
Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.错误折叠的阳离子胰蛋白酶原变体p.L104P导致遗传性胰腺炎。
Gut. 2017 Sep;66(9):1727-1728. doi: 10.1136/gutjnl-2016-313451. Epub 2016 Dec 23.
8
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.人阳离子胰蛋白酶原（PRSS1）变异体与慢性胰腺炎。
Am J Physiol Gastrointest Liver Physiol. 2014 Mar;306(6):G466-73. doi: 10.1152/ajpgi.00419.2013. Epub 2014 Jan 23.
9
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.CPA1 中的变异与早发性慢性胰腺炎密切相关。
Nat Genet. 2013 Oct;45(10):1216-20. doi: 10.1038/ng.2730. Epub 2013 Aug 18.
Zotero 插件