Abstract:
OBJECTIVE:To detect mutations of trypsinogen gene (PRSS1) in patients with autoimmune pancreatitis (AIP) and to determine the underlying pathogenesis. METHODS:DNA sequencing was used to detect full-length of PRSS1, cystic fibrosis transmembrane conductance regulator (CFTR), and pancreatic secretory trypsin inhibitor (SPINK1) genes mutations in an AIP family and a sporadic case and 520 normal controls. Furthermore, a mutant-expressing system was constructed for functional confirmation. RESULTS:For the first time, we report a deletion mutation at exon 2 of PRSS1 gene (IVS 2 +56_60 del CCCAG) which encoded a truncated PRSS1 protein without trypsinogen activation peptide (TAP). Vitro functional study suggested the identified mutation would result in loss of PRSS1 activity. Mutant trypsinogen activated at a faster rate than wild-type trypsinogen in the autoactivation experiment. Histopathologic examination revealed the ratio of IgG4/IgG-positive plasma cells exceeded 0.455 in pancreas, and the patients responded to glucocorticoids. CONCLUSION:PRSS1: IVS 2 +56_60 del CCCAG is a noval mutant which may contribute to AIP pathogenesis.
journal_name
Curr Mol Medjournal_title
Current molecular medicineauthors
Gao F,Li Y,Wang C,Zhuang Z,Liu QC,Chen J,Hong G,Xu Zdoi
10.2174/1566524013666131118114432subject
Has Abstractpub_date
2014-03-01 00:00:00pages
340-8issue
3eissn
1566-5240issn
1875-5666pii
CMM-EPUB-57463journal_volume
14pub_type
杂志文章abstract::The blood stage of the malaria parasite's life cycle is responsible for all the clinical symptoms of malaria. The development of clinical disease is dependent on the interplay of the infecting parasite with the immune status and genetic background of the host. Following repeated exposure to malaria parasites, individu...
journal_title:Current molecular medicine
pub_type: 杂志文章,评审
doi:10.2174/156652406776055212
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journal_title:Current molecular medicine
pub_type: 杂志文章,评审
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journal_title:Current molecular medicine
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journal_title:Current molecular medicine
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journal_title:Current molecular medicine
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更新日期:2011-07-01 00:00:00
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journal_title:Current molecular medicine
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更新日期:2007-05-01 00:00:00
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journal_title:Current molecular medicine
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journal_title:Current molecular medicine
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更新日期:2012-02-01 00:00:00
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journal_title:Current molecular medicine
pub_type: 杂志文章,评审
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更新日期:2015-01-01 00:00:00
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journal_title:Current molecular medicine
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journal_title:Current molecular medicine
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journal_title:Current molecular medicine
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更新日期:2002-02-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2012-09-01 00:00:00
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journal_title:Current molecular medicine
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更新日期:2019-01-01 00:00:00
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journal_title:Current molecular medicine
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更新日期:2005-06-01 00:00:00
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journal_title:Current molecular medicine
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更新日期:2021-01-10 00:00:00
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journal_title:Current molecular medicine
pub_type: 信件
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journal_title:Current molecular medicine
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更新日期:2020-04-27 00:00:00
abstract::Diabetic retinopathy (DR) is one of the leading causes of blindness in the working population worldwide. Vascular leakage, angiogenesis and neuronal degeneration are key features of DR. Current effective interventions for DR include treatment of systemic risk factors such as elevated blood glucose, blood pressure and ...
journal_title:Current molecular medicine
pub_type: 杂志文章,评审
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更新日期:2014-03-01 00:00:00
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journal_title:Current molecular medicine
pub_type: 杂志文章,评审
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更新日期:2012-07-01 00:00:00
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journal_title:Current molecular medicine
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更新日期:2008-05-01 00:00:00
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journal_title:Current molecular medicine
pub_type: 杂志文章
doi:10.2174/1566524019666190104105043
更新日期:2018-01-01 00:00:00
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journal_title:Current molecular medicine
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更新日期:2011-12-01 00:00:00
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journal_title:Current molecular medicine
pub_type: 杂志文章,评审
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更新日期:2008-03-01 00:00:00
abstract::The currently available knowledge of factors that dictate the development and progression as well as the clinical outcome of colorectal cancers (CRC) is mainly derived from Western countries. Considerable number of publications document different incidence rates and contrasting clinical features of CRC in various grou...
journal_title:Current molecular medicine
pub_type: 杂志文章,评审
doi:10.2174/1566524017666170220094705
更新日期:2017-01-01 00:00:00