FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2770039789> ?p ?o ?g. }

• W2770039789 endingPage "163.e3" @default.
• W2770039789 startingPage "158" @default.
• W2770039789 abstract "To identify causal mutations in certain genes in children with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP).After patients were enrolled (CP, 55; ARP, 14) and their clinical characteristics were investigated, we performed next-generation sequencing to detect nucleotide variations among the following 10 genes: cationic trypsinogen protease serine 1 (PRSS1), serine protease inhibitor, Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator gene (CFTR), chymotrypsin C (CTRC), calcium-sensing receptor (CASR), cathepsin B (CTSB), keratin 8 (KRT8), CLAUDIN 2 (CLDN2), carboxypeptidase A1 (CPA1), and ATPase type 8B member 1 (ATP8B1). Mutations were searched against online databases to obtain information on the cause of the diseases. Certain novel mutations were analyzed using the SIFT2 and Polyphen-2 to predict the effect on protein function.There were 45 patients with CP and 10 patients with ARP who harbored 1 or more mutations in these genes; 45 patients had at least 1 mutation related to pancreatitis. Mutations were observed in the PRSS1, SPINK1, and CFTR genes in 17 patients, the CASR gene in 5 patients, and the CTSB, CTRC, and KRT8 genes in 1 patient. Mutations were not found in the CLDN, CPA1, or ATP8B1 genes. We found that mutations in SPINK1 may increase the risk of pancreatic duct stones (OR, 11.07; P = .003). The patients with CFTR mutations had a higher level of serum amylase (316.0 U/L vs 92.5 U/L; P = .026).Mutations, especially those in PRSS1, SPINK1, and CFTR, accounted for the major etiologies in Chinese children with CP or ARP. Children presenting mutations in the SPINK1 gene may have a higher risk of developing pancreatic duct stones." @default.
• W2770039789 created "2017-12-04" @default.
• W2770039789 creator A5000918516 @default.
• W2770039789 creator A5014888334 @default.
• W2770039789 creator A5023728872 @default.
• W2770039789 creator A5045674205 @default.
• W2770039789 creator A5045902711 @default.
• W2770039789 creator A5049791989 @default.
• W2770039789 creator A5054054198 @default.
• W2770039789 creator A5060020071 @default.
• W2770039789 creator A5089785838 @default.
• W2770039789 date "2017-12-01" @default.
• W2770039789 modified "2023-10-15" @default.
• W2770039789 title "Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis" @default.
• W2770039789 cites W1520767620 @default.
• W2770039789 cites W1563800735 @default.
• W2770039789 cites W1870094350 @default.
• W2770039789 cites W1965444834 @default.
• W2770039789 cites W1971440460 @default.
• W2770039789 cites W1978821744 @default.
• W2770039789 cites W1981231263 @default.
• W2770039789 cites W1983411909 @default.
• W2770039789 cites W1985300710 @default.
• W2770039789 cites W1990388763 @default.
• W2770039789 cites W1994092634 @default.
• W2770039789 cites W1997718215 @default.
• W2770039789 cites W2003115684 @default.
• W2770039789 cites W2006371138 @default.
• W2770039789 cites W2011407823 @default.
• W2770039789 cites W2014531945 @default.
• W2770039789 cites W2024007125 @default.
• W2770039789 cites W2024369834 @default.
• W2770039789 cites W2033780498 @default.
• W2770039789 cites W2042301259 @default.
• W2770039789 cites W2042784854 @default.
• W2770039789 cites W2043829492 @default.
• W2770039789 cites W2044739067 @default.
• W2770039789 cites W2045322786 @default.
• W2770039789 cites W2072477333 @default.
• W2770039789 cites W2076895945 @default.
• W2770039789 cites W2078486827 @default.
• W2770039789 cites W2083214486 @default.
• W2770039789 cites W2085404502 @default.
• W2770039789 cites W2103580980 @default.
• W2770039789 cites W2114554350 @default.
• W2770039789 cites W2124109192 @default.
• W2770039789 cites W2125385355 @default.
• W2770039789 cites W2126164686 @default.
• W2770039789 cites W2139483165 @default.
• W2770039789 cites W2141690100 @default.
• W2770039789 cites W2155615727 @default.
• W2770039789 cites W2166863205 @default.
• W2770039789 cites W2273171223 @default.
• W2770039789 cites W2313997190 @default.
• W2770039789 cites W2316362033 @default.
• W2770039789 cites W2330410882 @default.
• W2770039789 cites W2386091666 @default.
• W2770039789 cites W322093559 @default.
• W2770039789 doi "https://doi.org/10.1016/j.jpeds.2017.08.063" @default.
• W2770039789 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29173301" @default.
• W2770039789 hasPublicationYear "2017" @default.
• W2770039789 type Work @default.
• W2770039789 sameAs 2770039789 @default.
• W2770039789 citedByCount "30" @default.
• W2770039789 countsByYear W27700397892017 @default.
• W2770039789 countsByYear W27700397892018 @default.
• W2770039789 countsByYear W27700397892019 @default.
• W2770039789 countsByYear W27700397892020 @default.
• W2770039789 countsByYear W27700397892021 @default.
• W2770039789 countsByYear W27700397892022 @default.
• W2770039789 countsByYear W27700397892023 @default.
• W2770039789 crossrefType "journal-article" @default.
• W2770039789 hasAuthorship W2770039789A5000918516 @default.
• W2770039789 hasAuthorship W2770039789A5014888334 @default.
• W2770039789 hasAuthorship W2770039789A5023728872 @default.
• W2770039789 hasAuthorship W2770039789A5045674205 @default.
• W2770039789 hasAuthorship W2770039789A5045902711 @default.
• W2770039789 hasAuthorship W2770039789A5049791989 @default.
• W2770039789 hasAuthorship W2770039789A5054054198 @default.
• W2770039789 hasAuthorship W2770039789A5060020071 @default.
• W2770039789 hasAuthorship W2770039789A5089785838 @default.
• W2770039789 hasConcept C104317684 @default.
• W2770039789 hasConcept C126322002 @default.
• W2770039789 hasConcept C181199279 @default.
• W2770039789 hasConcept C2775967933 @default.
• W2770039789 hasConcept C2778428886 @default.
• W2770039789 hasConcept C2780340462 @default.
• W2770039789 hasConcept C2781286802 @default.
• W2770039789 hasConcept C501734568 @default.
• W2770039789 hasConcept C502942594 @default.
• W2770039789 hasConcept C54355233 @default.
• W2770039789 hasConcept C55493867 @default.
• W2770039789 hasConcept C71924100 @default.
• W2770039789 hasConcept C86803240 @default.
• W2770039789 hasConceptScore W2770039789C104317684 @default.
• W2770039789 hasConceptScore W2770039789C126322002 @default.
• W2770039789 hasConceptScore W2770039789C181199279 @default.
• W2770039789 hasConceptScore W2770039789C2775967933 @default.

• next