Search Results - "Jellas, Khadija El"

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity by Gravdal, Anny, Xiao, Xunjun, Cnop, Miriam, El Jellas, Khadija, Johansson, Stefan, Njølstad, Pål R., Lowe, Mark E., Johansson, Bente B., Molven, Anders, Fjeld, Karianne

“…Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL…”
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Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases by El Jellas, Khadija, Dušátková, Petra, Haldorsen, Ingfrid S, Molnes, Janne, Tjora, Erling, Johansson, Bente B, Fjeld, Karianne, Johansson, Stefan, Průhová, Štěpánka, Groop, Leif, Löhr, J Matthias, Njølstad, Pål R, Molven, Anders

“…Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase…”
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The role of the carboxyl ester lipase (CEL) gene in pancreatic disease by Johansson, Bente B., Fjeld, Karianne, El Jellas, Khadija, Gravdal, Anny, Dalva, Monica, Tjora, Erling, Ræder, Helge, Kulkarni, Rohit N., Johansson, Stefan, Njølstad, Pål R., Molven, Anders

“…The enzyme carboxyl ester lipase (CEL), also known as bile salt-dependent or -stimulated lipase (BSDL, BSSL), hydrolyzes dietary fat, cholesteryl esters and…”
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The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants by El Jellas, Khadija, Johansson, Bente B., Fjeld, Karianne, Antonopoulos, Aristotelis, Immervoll, Heike, Choi, Man H., Hoem, Dag, Lowe, Mark E., Lombardo, Dominique, Njølstad, Pål R., Dell, Anne, Mas, Eric, Haslam, Stuart M., Molven, Anders

“…Carboxyl-ester lipase (CEL) is a pancreatic fat-digesting enzyme associated with human disease. Rare mutations in the CEL gene cause a syndrome of pancreatic…”
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The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice by Fjeld, Karianne, Gravdal, Anny, Brekke, Ranveig S., Alam, Jahedul, Wilhelm, Steven J., El Jellas, Khadija, Pettersen, Helene N., Lin, Jianguo, Solheim, Marie H., Steine, Solrun J., Johansson, Bente B., Njølstad, Pål R., Verbeke, Caroline S., Xiao, Xunjun, Lowe, Mark E., Molven, Anders

“…The CEL gene encodes the digestive enzyme carboxyl ester lipase. CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a genetic variant…”
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Mutation analysis by deep sequencing of pancreatic juice from patients with pancreatic ductal adenocarcinoma by Choi, Man Hung, Mejlænder-Andersen, Eline, Manueldas, Sophia, El Jellas, Khadija, Steine, Solrun J, Tjensvoll, Kjersti, Sætran, Hege Aase, Knappskog, Stian, Hoem, Dag, Nordgård, Oddmund, Hovland, Randi, Molven, Anders

“…Reliable methods are needed to identify patients with early-stage cancer or high-grade precancerous lesions in the pancreas. Analysis of pancreatic juice to…”
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Altered O- and N-linked glycosylation profiles in carboxyl ester lipase (CEL) protein variants involved in chronic pancreatitis and MODY8 syndrome by El Jellas, Khadija, Haslam, Stuart M., Choi, Man Hung, Dell, Anne, Johansson, Bente B., Fjeld, Karianne, Molven, Anders

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Aberrant N- and O-linked glycosylation in carboxyl ester lipase (CEL) protein variants involved in MODY8 syndrome and chronic pancreatitis by El Jellas, Khadija, Antonopoulos, Aristotelis, Haslam, Stuart M., Choi, Man H., Dell, Anne, Njølstad, Pål. R, Johansson, Bente Berg, Fjeld, Karianne, Molven, Anders

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Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase ( CEL ) gene as risk factors in pancreatic cancer by Dalva, Monica, El Jellas, Khadija, Steine, Solrun J, Johansson, Bente B, Ringdal, Monika, Torsvik, Janniche, Immervoll, Heike, Hoem, Dag, Laemmerhirt, Felix, Simon, Peter, Lerch, Markus M, Johansson, Stefan, Njølstad, Pål R, Weiss, Frank U, Fjeld, Karianne, Molven, Anders

“…Abstract Background/Objectives We have recently described copy number variants (CNVs) of the human carboxyl-ester lipase ( CEL) gene, including a recombined…”
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1557-P: Increased PAHSA Hydrolysis Driven by Mutant Carboxyl Ester Lipase (CEL) Contributes to Beta-Cell Dysfunction in MODY8 by SANTORO, ANNA, KAHRAMAN, SEVIM, BASILE, GIORGIO, EL JELLAS, KHADIJA, HU, JIANG, TARPEY, RYAN, JOHANSSON, BENTE B., DIRICE, ERCUMENT, SYED, ISMAIL, SIEGEL, DIONICIO, MOLVEN, ANDERS, KAHN, BARBARA B., KULKARNI, ROHIT

“…Maturity onset diabetes of the young type 8 (MODY8) is caused by genetic mutations in the CEL gene which is expressed primarily in pancreatic acinar cells…”
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Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis by Fjeld, Karianne, Masson, Emmanuelle, Lin, Jin-Huan, Michl, Patrick, Stokowy, Tomasz, Gravdal, Anny, El Jellas, Khadija, Steine, Solrun J., Hoem, Dag, Johansson, Bente B., Dalva, Monica, Ruffert, Claudia, Zou, Wen-Bin, Li, Zhao-Shen, Njølstad, Pål R., Chen, Jian-Min, Liao, Zhuan, Johansson, Stefan, Rosendahl, Jonas, Férec, Claude, Molven, Anders

“…Carboxyl ester lipase is a pancreatic enzyme encoded by CEL, an extremely polymorphic human gene. Pathogenic variants of CEL either increases the risk for…”
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Mutation analysis by deep sequencing of pancreatic juice in patients with pancreatic ductal adenocarcinoma by Choi, Man Hung, Mejlænder-Larsen, Eline, Manueldas, Sophia, El Jellas, Khadija, Steine, Solrun J., Tjensvoll, Kjersti, Sætran, Hege Aase, Knappskog, Stian, Hoem, Dag, Nordgård, Oddmund, Hovland, Randi, Molven, Anders

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Different effects of frameshift mutations occurring in the repeat region of the pancreatic enzyme carboxyl ester lipase (CEL) by Gravdal, Anny, Brekke, Ranveig Seim, El Jellas, Khadija, Xiao, Xunjun, Lowe, Mark E., Lombardo, Dominique, Mas, Eric, Johansson, Bente Berg, Fjeld, Karianne, Molven, Anders

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Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival by El Jellas, Khadija, Hoem, Dag, Hagen, Kristin G, Kalvenes, May Britt, Aziz, Sura, Steine, Solrun J, Immervoll, Heike, Johansson, Stefan, Molven, Anders

“…Both serology‐based and genetic studies have reported an association between pancreatic cancer risk and ABO blood groups. We have investigated this…”
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Pancreatic carboxyl-ester lipase (CEL) can present ABO blood group determinants with potential implications for cancer cell recognition by El Jellas, Khadija, Immervoll, Heike, Steffensen, Ole, Johansson, Bente Berg, Fjeld, Karianne, Lombardo, Dominique, Njřlstad, Pĺl Rasmus, Mas, Eric, Molven, Anders

“…Results: Both ISH and RT-qPCR demonstrated very low levels of CEL mRNA in pancreatic cancer sections and cell lines, coherent with no protein detected by…”
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The polymorphic carboxyl-ester lipase (CEL) gene: novel copy number variants (CNVs) identified by both classical and high-throughput genetic analysis by Fjeld, Karianne, Masson, Emmanuelle Masson, Michl, Patrick, Stokowy, Tomasz, Lin, He, Steine, Solrun J., Johansson, Bente B., Dalva, Monica, El Jellas, Khadija, Ruffert, Claudia, Zou, Wen-Bin, Li, Zhao-Shen, Njølstad, Pål R, Chen, Jian-Min, Liao, Zhuan, Johansson, Stefan, Rosendahl, Jonas, Férec, Claude, Molven, Anders

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Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells by Dalva, Monica, Lavik, Ida K, El Jellas, Khadija, Gravdal, Anny, Lugea, Aurelia, Pandol, Stephen J, Njølstad, Pål R, Waldron, Richard T, Fjeld, Karianne, Johansson, Bente B, Molven, Anders

“…Mutations in the gene encoding the digestive enzyme carboxyl ester lipase (CEL) are linked to pancreatic disease. The CEL variant denoted CEL-HYB predisposes…”
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Carboxyl ester lipase (CEL) in pancreatic disease: pathogenicity of CEL-MODY, but not CEL-HYB1, depends on cysteine residues in the hypervariable tail region by Garzón, Miguel Juárez, El Jellas, Khadija, Navarsete, Rune H., Torsvik, Janniche, Reuther, Nathalie, Lowe, Mark E., Xiao, Xunjun, Fjeld, Karianne, Molven, Anders

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Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas by Brekke, Ranveig S, Gravdal, Anny, El Jellas, Khadija, Curry, Grace E, Lin, Jianguo, Wilhelm, Steven J, Steine, Solrun J, Mas, Eric, Johansson, Stefan, Lowe, Mark E, Johansson, Bente B, Xiao, Xunjun, Fjeld, Karianne, Molven, Anders

“…Abstract The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR)…”
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Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid–sensitive hypoglycemia by St-Louis, Johanna L., El Jellas, Khadija, Velasco, Kelly, Slipp, Brittany A., Hu, Jiang, Helgeland, Geir, Steine, Solrun J., De Jesus, Dario F., Kulkarni, Rohit N., Molven, Anders

“…Congenital hyperinsulinism of infancy (CHI) can be caused by a deficiency of the ubiquitously expressed enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase…”
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