Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.

scientific article published on 31 October 2008

Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/GUT.2008.164947
P932PMC publication ID2677899
P698PubMed publication ID18978175
P5875ResearchGate publication ID23445623

P50authorMiklós Sahin-TóthQ38318675
P2093author name stringE Kereszturi
O Király
P2860cites workTwo novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitisQ44727697
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitisQ46568542
SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in JapanQ46705589
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.Q51796788
Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis.Q54561328
SPINK1 gene mutations and pancreatitis in Japan.Q54582902
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.Q54593532
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitisQ57263763
N34S Mutation in the SPINK1 Gene Is Not Associated With Alternative SplicingQ60609873
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patientsQ78575271
Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitutionQ78665494
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitisQ79144290
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
Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitisQ28189191
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysisQ33328503
Exon junction complexes mediate the enhancing effect of splicing on mRNA expressionQ36160767
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.Q36805212
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitisQ37395316
SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary reportQ39410356
A SPINK1 gene mutation in a Thai patient with fibrocalculous pancreatic diabetes.Q39474246
Activation of pancreatic zymogens. Normal activation, premature intrapancreatic activation, protective mechanisms against inappropriate activationQ39477680
Analysis of the stimulatory effect of splicing on mRNA production and utilization in mammalian cellsQ40654122
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradationQ41110653
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
P433issue4
P407language of work or nameEnglishQ1860
P304page(s)545-549
P577publication date2008-10-31
P1433published inGutQ5621669
P1476titleMinigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis
P478volume58

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cites work (P2860)
Q36664946A Common CCK-B Receptor Intronic Variant in Pancreatic Adenocarcinoma in a Hungarian Cohort
Q30000783A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients
Q35304061Assessing the pathological relevance of SPINK1 promoter variants
Q86266745Association between lncrna PCGEM1 polymorphisms and prostate cancer risk
Q61799980Bad Tumors Made Worse: SPINK1
Q27693296Chymotrypsin C mutations in chronic pancreatitis
Q48271163Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis
Q53172779Do genetic variants in the SPINK1 gene affect the level of serum PSTI?
Q42405322Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis.
Q40314070Functional significance of SPINK1 promoter variants in chronic pancreatitis.
Q33843764Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway
Q37842752Genetic basis of chronic pancreatitis in Asia Pacific region
Q27000406Genetics of pancreatitis
Q38757404Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype
Q55394233Pancreatic Cancer Cell Lines Heterozygous for the SPINK1 p.N34S Haplotype Exhibit Diminished Expression of the Variant Allele.
Q33764920Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells
Q36011264Proteomic analysis of formalin-fixed paraffin-embedded pancreatic tissue using liquid chromatography tandem mass spectrometry
Q37328556Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis
Q36546449Serine protease inhibitor Kazal type 1 (SPINK1) drives proliferation and anoikis resistance in a subset of ovarian cancers
Q99418333Targeting an autocrine IL-6-SPINK1 signaling axis to suppress metastatic spread in ovarian clear cell carcinoma
Q35013336The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion
Q90124861The impact of physiological stress conditions on protein structure and trypsin inhibition of serine protease inhibitor Kazal type 1 (SPINK1) and its N34S variant
Q64239617Toward a clinical diagnostic pipeline for SPINK1 intronic variants

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