Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study

scientific article published on 03 September 2013

Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/BMJOPEN-2013-003150
P932PMC publication ID3773632
P698PubMed publication ID24002981
P5875ResearchGate publication ID256425725

P2093author name stringWei Wang
Tian Xia
Chang Sun
Yun Liu
Fei Jiang
Bo Ye
Jun Gao
Zhao-Shen Li
Liang-Hao Hu
Zhuan Liao
Lu-Min Bo
Dai-Zhan Zhou
Xiao-Tian Sun
Xiao-Wei Lai
Mu-Yun Liu
Xiao-Ling Weng
P2860cites workHereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneQ24311652
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitisQ24645261
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitisQ24658116
Chymotrypsin C mutations in chronic pancreatitisQ27693296
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitisQ28138105
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitisQ28138406
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitisQ28145585
Cloning of the human claudin-2 5'-flanking region revealed a TATA-less promoter with conserved binding sites in mouse and human for caudal-related homeodomain proteins and hepatocyte nuclear factor-1alphaQ28212968
Clinical and genetic characteristics of hereditary pancreatitis in EuropeQ28250117
Large-scale copy number polymorphism in the human genomeQ28273726
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitisQ30528817
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitisQ30815377
Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitisQ34523224
Chronic pancreatitis: Asia-Pacific consensus reportQ34619449
Gene mutations in children with chronic pancreatitisQ34743053
Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.Q34978689
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosisQ35209665
Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitisQ35353949
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.Q36805212
Idiopathic chronic pancreatitisQ37061039
Genetics of pancreatitis: a guide for cliniciansQ37156909
Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese populationQ37235575
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.Q38015583
Genetics and pathogenesis of chronic pancreatitis: the 2012 updateQ38022995
Analysis of PRSS1 and SPINK1 mutations in Korean patients with idiopathic and familial pancreatitisQ38498428
Mutations of the cystic fibrosis gene in patients with chronic pancreatitisQ38502091
Prevalence and clinical features of chronic pancreatitis in China: a retrospective multicenter analysis over 10 yearsQ39863786
Pancreatography in chronic pancreatitis: international definitionsQ41825563
Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patientsQ41896734
[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding siteQ42844578
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitisQ43073732
Chronic pancreatitis in Chinese children: etiology, clinical presentation and imaging diagnosisQ43735647
The natural history of hereditary pancreatitis: a national seriesQ43900582
Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects.Q43968341
Analysis of CFTR, SPINK1, PRSS1 and AAT Mutations in Children With Acute or Chronic PancreatitisQ60609845
Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitisQ73347191
Variations of the CFTR gene in the Hanoi-VietnameseQ81834437
Immunohistochemical analysis of claudin expression in pancreatic cystic tumorsQ83130910
P433issue9
P921main subjectchronic pancreatitisQ1996053
P304page(s)e003150
P577publication date2013-09-03
P1433published inBMJ OpenQ17003470
P1476titleComprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study
P478volume3