Cargando…

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

Carboxyl-ester lipase is a digestive pancreatic enzyme encoded by the highly polymorphic CEL gene(1). Mutations in CEL cause maturity-onset diabetes of the young (MODY) with pancreatic exocrine dysfunction(2). Here we identified a hybrid allele (CEL-HYB), originating from a crossover between CEL and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fjeld, Karianne, Weiss, Frank Ulrich, Lasher, Denise, Rosendahl, Jonas, Chen, Jian-Min, Johansson, Bente B., Kirsten, Holger, Ruffert, Claudia, Masson, Emmanuelle, Steine, Solrun J., Bugert, Peter, Cnop, Miriam, Grützmann, Robert, Mayerle, Julia, Mössner, Joachim, Ringdal, Monika, Schulz, Hans-Ulrich, Sendler, Matthias, Simon, Peter, Sztromwasser, Paweł, Torsvik, Janniche, Scholz, Markus, Tjora, Erling, Férec, Claude, Witt, Heiko, Lerch, Markus M., Njølstad, Pål R., Johansson, Stefan, Molven, Anders
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321495/ https://www.ncbi.nlm.nih.gov/pubmed/25774637 http://dx.doi.org/10.1038/ng.3249

Ejemplares similares

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity
por: Gravdal, Anny, et al.
Publicado: (2021)

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases
por: El Jellas, Khadija, et al.
Publicado: (2021)

Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis
por: Fjeld, Karianne, et al.
Publicado: (2016)

Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells
por: Dalva, Monica, et al.
Publicado: (2020)

pRb2/p130 protein expression and RBL2 mutation analysis in Burkitt lymphoma from Uganda
por: Kalungi, Sam, et al.
Publicado: (2009)

Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival
por: El Jellas, Khadija, et al.
Publicado: (2017)

Necrosis, Apoptosis, Necroptosis, Pyroptosis: It Matters How Acinar Cells Die During Pancreatitis
por: Sendler, Matthias, et al.
Publicado: (2016)

Burst Packet Loss Concealment Using Multiple Codebooks and Comfort Noise for CELP-Type Speech Coders in Wireless Sensor Networks
por: Park, Nam In, et al.
Publicado: (2011)

Genetic Analyses of Heme Oxygenase 1 (HMOX1) in Different Forms of Pancreatitis
por: Weis, Sebastian, et al.
Publicado: (2012)

Absence of the neutrophil serine protease cathepsin G decreases neutrophil granulocyte infiltration but does not change the severity of acute pancreatitis
por: Aghdassi, Ali A., et al.
Publicado: (2019)

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
por: Brunetti, Dario, et al.
Publicado: (2015)

Animal models for investigating chronic pancreatitis
por: Aghdassi, Alexander A, et al.
Publicado: (2011)

Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid–sensitive hypoglycemia
por: St-Louis, Johanna L., et al.
Publicado: (2023)

Mutation analysis by deep sequencing of pancreatic juice from patients with pancreatic ductal adenocarcinoma
por: Choi, Man Hung, et al.
Publicado: (2019)

A Common Variant of PNPLA3 (p.I148M) Is Not Associated with Alcoholic Chronic Pancreatitis
por: Rosendahl, Jonas, et al.
Publicado: (2012)

Plasma Metabolome Profiling Identifies Metabolic Subtypes of Pancreatic Ductal Adenocarcinoma
por: Mahajan, Ujjwal Mukund, et al.
Publicado: (2021)

Biological variation, reference change values and index of individuality of GDF-15
por: Sithiravel, Cindhya, et al.
Publicado: (2022)

Common variants in glyoxalase I do not increase chronic pancreatitis risk
por: Kaune, Tom, et al.
Publicado: (2019)

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes
por: Svalastoga, Pernille, et al.
Publicado: (2023)

Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (SLC51A) Expression
por: Tronstad, Rune Rose, et al.
Publicado: (2022)

Complement Component 5 Mediates Development of Fibrosis, via Activation of Stellate Cells, in 2 Mouse Models of Chronic Pancreatitis
por: Sendler, Matthias, et al.
Publicado: (2015)

Cathepsin B-Mediated Activation of Trypsinogen in Endocytosing Macrophages Increases Severity of Pancreatitis in Mice
por: Sendler, Matthias, et al.
Publicado: (2018)

Feasibility of using self-reported patient data in a national diabetes register
por: Løvaas, Karianne Fjeld, et al.
Publicado: (2015)

Pancreatitis severity in mice with impaired CFTR function but pancreatic sufficiency is mediated via ductal and inflammatory cells‐Not acinar cells
por: Trapp, Simon, et al.
Publicado: (2021)

IRAK3-mediated suppression of pro-inflammatory MyD88/IRAK signaling affects disease severity in acute pancreatitis
por: Thiel, Franziska G., et al.
Publicado: (2023)

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema
por: Tzoulis, C., et al.
Publicado: (2016)

Lipase gene fusion: a new route to chronic pancreatitis
por: Molven, Anders, et al.
Publicado: (2015)

Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations
por: Vesterhus, Mette, et al.
Publicado: (2008)

Magnetic Bead—Magic Bullet
por: Ruffert, Christine
Publicado: (2016)

Tumour-specific delivery of siRNA-coupled superparamagnetic iron oxide nanoparticles, targeted against PLK1, stops progression of pancreatic cancer
por: Mahajan, Ujjwal M, et al.
Publicado: (2016)

Activated regulatory T-cells promote duodenal bacterial translocation into necrotic areas in severe acute pancreatitis
por: Glaubitz, Juliane, et al.
Publicado: (2023)

The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice
por: Mao, Xiao-Tong, et al.
Publicado: (2022)

In mouse chronic pancreatitis CD25(+)FOXP3(+) regulatory T cells control pancreatic fibrosis by suppression of the type 2 immune response
por: Glaubitz, Juliane, et al.
Publicado: (2022)

In vivo imaging of pancreatic tumours and liver metastases using 7 Tesla MRI in a murine orthotopic pancreatic cancer model and a liver metastases model
por: Partecke, Ivo L, et al.
Publicado: (2011)

Metabolic biomarker signature to differentiate pancreatic ductal adenocarcinoma from chronic pancreatitis
por: Mayerle, Julia, et al.
Publicado: (2018)

The Gut Microbiome in Patients With Chronic Pancreatitis Is Characterized by Significant Dysbiosis and Overgrowth by Opportunistic Pathogens
por: Frost, Fabian, et al.
Publicado: (2020)

Metabolic biomarkers for the differential diagnosis of pancreatic ductal adenocarcinoma vs. chronic pancreatitis
por: Mayerle, Julia, et al.
Publicado: (2014)

Carrying asymptomatic gallstones is not associated with changes in intestinal microbiota composition and diversity but cholecystectomy with significant dysbiosis
por: Frost, Fabian, et al.
Publicado: (2021)

U-251 revisited: genetic drift and phenotypic consequences of long-term cultures of glioblastoma cells
por: Torsvik, Anja, et al.
Publicado: (2014)

Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study)
por: Hertel, Jens K, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_eth4jubpln0fpplfslv80knjk5