Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. - Wikidata - wikimedia - TriplyDB

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

http://www.wikidata.org/entity/Q39222848

about

Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism Framework for interpretation of trypsin-antitrypsin imbalance and genetic heterogeneity in pancreatitis In vivo imaging with fluorescent smart probes to assess treatment strategies for acute pancreatitis Chymotrypsin C mutations in chronic pancreatitis.A 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 Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.Sequence analysis of the human tyrosylprotein sulfotransferase-2 gene in subjects with chronic pancreatitis Genetics of acute and chronic pancreatitis: An update.Genetic and phenotypic heterogeneity in tropical calcific pancreatitis Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis Mutational analysis of ATP8B1 in patients with chronic pancreatitis.Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.Proteases: multifunctional enzymes in life and disease.PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis Molecular basis for pancreatitis.Genetic mechanisms underlying the pathogenesis of tropical calcific pancreatitis.Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.Genetic basis of chronic pancreatitis in Asia Pacific region.Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.Strong purifying selection against gene conversions in the trypsin genes of primates.Elucidation of the complex structure and origin of the human trypsinogen locus triplication.Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.

P2860

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P2860

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

http://www.wikidata.org/entity/Q39222848

description

2007 nî lūn-bûn

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2007年の論文

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2007年論文

@yue

2007年論文

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2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

2007年论文

@zh

2007年论文

@zh-cn

name

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

@en

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

@nl

type

label

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

@en

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

@nl

prefLabel

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

@en

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

@nl

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J.CGH.2007.10.004

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Clinical Gastroenterology and Hepatology

P1476

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

@en

P2093

Claude Férec

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Cédric Le Maréchal

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D Nageshwar Reddy

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Emmanuelle Masson

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Giriraj R Chandak

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Jian-Min Chen

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Jérôme Lamoril

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Seema Bhaskar

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Stephane Bezieau

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Swapna Mahurkar

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82-88

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scholarly article

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10.1016/J.CGH.2007.10.004

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