Blar i Bergen Open Research Archive på forfatter "Johansson, Bente Berg"
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Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes
Svalastoga, Pernille; Kaci, Alba; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Krogvold, Lars; Skrivarhaug, Torild; Valen, Eivind; Johansson, Stefan; Molven, Anders; Sagen, Jørn Vegard; Søfteland, Eirik; Bjørkhaug, Lise; Tjora, Erling; Aukrust, Ingvild; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2023)Aims/hypothesis Correctly diagnosing MODY is important, as individuals with this diagnosis can discontinue insulin injections; however, many people are misdiagnosed. We aimed to develop a robust approach for determining ... -
Characterization of the genetic architecture of infant and early childhood body mass index
Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol; Flatley, Christopher; Juodakis, Julius; Bacelis, Jonas; Koløen, Ingvild; Knudsen, Gun Peggy Strømstad; Johansson, Bente Berg; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Juliusson, Pétur Benedikt; Stoltenberg, Camilla; Holmen, Oddgeir Lingaas; Andreassen, Ole; Jacobsson, Bo; Njølstad, Pål Rasmus; Johansson, Stefan (Journal article; Peer reviewed, 2022)Early childhood obesity is a growing global concern; however, the role of common genetic variation on infant and child weight development is unclear. Here, we identify 46 loci associated with early childhood body mass index ... -
The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice
Fjeld, Karianne; Svanbring, Anny Gravdal; Brekke, Ranveig Seim; Alam, Jahedul; Wilhelm, Steven J.; el Jellas, Khadija; Pettersen, Helene Nazmiye; Lin, Jianguo; Solheim, Marie Holm; Steine, Solrun; Johansson, Bente Berg; Njølstad, Pål Rasmus; Verbeke, Caroline Sophie; Xiao, Xunjun; Lowe, Mark E.; Molven, Anders (Journal article; Peer reviewed, 2022)Background & aims: 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 suggested to increase the risk of chronic pancreatitis ... -
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
El Jellas, Khadija; Johansson, Bente Berg; Fjeld, Karianne; Antonopoulos, Aristotelis; Immervoll, Heike; Choi, Man Hung; Hoem, Dag; Lowe, Mark E.; Lombardo, Dominique; Njølstad, Pål Rasmus; Dell, Anne; Mas, Eric; Haslam, Stuart M.; Molven, Anders (Peer reviewed; Journal article, 2018)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 exocrine and endocrine dysfunction denoted MODY8, whereas a ... -
The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity
Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam; Jellas, Khadija el; Johansson, Stefan; Njølstad, Pål Rasmus; Lowe, Mark E.; Johansson, Bente Berg; Molven, Anders; Fjeld, Karianne (Journal article; Peer reviewed, 2021)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 gene, which is specifically expressed in pancreatic acinar ... -
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases
Jellas, Khadija el; Dušátková, Petra; Haldorsen, Ingfrid S.; Molnes, Janne; Tjora, Erling; Johansson, Bente Berg; Fjeld, Karianne; Johansson, Stefan; Průhová, Štěpánka; Groop, Leif; Löhr, J. Matthias; Njølstad, Pål Rasmus; Molven, Anders (Journal article; Peer reviewed, 2022)Context 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. Several diabetes cases and families have in recent years ...