Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Bente B, Johansson"'
Autor:
Sevim Kahraman, Ercument Dirice, Giorgio Basile, Danielle Diegisser, Jahedul Alam, Bente B. Johansson, Manoj K. Gupta, Jiang Hu, Ling Huang, Chew-Li Soh, Danwei Huangfu, Senthil K. Muthuswamy, Helge Raeder, Anders Molven, Rohit N. Kulkarni
Publikováno v:
Nature Metabolism. 4:76-89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00a90748897c53ea144f3de6c741aed3
https://doi.org/10.1038/s42255-021-00516-2
https://doi.org/10.1038/s42255-021-00516-2
Autor:
Monica Dalva, Ida K. Lavik, Khadija El Jellas, Anny Gravdal, Aurelia Lugea, Stephen J. Pandol, Pål R. Njølstad, Richard T. Waldron, Karianne Fjeld, Bente B. Johansson, Anders Molven
Publikováno v:
Cells, Vol 9, Iss 1, p 244 (2020)
Mutations in the gene encoding the digestive enzyme carboxyl ester lipase (CEL) are linked to pancreatic disease. The CEL variant denoted CEL-HYB predisposes to chronic pancreatitis, whereas the CEL-MODY variant causes MODY8, an inherited disorder of
Externí odkaz:
https://doaj.org/article/e92d1e292c544adf8167f14397e782c7
Autor:
Øyvind Helgeland, Marc Vaudel, Pol Sole-Navais, Christopher Flatley, Julius Juodakis, Jonas Bacelis, Ingvild L. Koløen, Gun Peggy Knudsen, Bente B. Johansson, Per Magnus, Ted Reichborn Kjennerud, Petur B. Juliusson, Camilla Stoltenberg, Oddgeir L. Holmen, Ole A. Andreassen, Bo Jacobsson, Pål R. Njølstad, Stefan Johansson
Publikováno v:
Nature Metabolism
Nat Metab
Nat Metab
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 at specific ages, matching
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6ddc537d9d4d7b8f48d7a218131212
https://hdl.handle.net/11250/3009502
https://hdl.handle.net/11250/3009502
Autor:
Bente B. Johansson, Janne Molnes, Anders Molven, Ingfrid S. Haldorsen, Petra Dusatkova, Karianne Fjeld, Leif Groop, J-Matthias Löhr, Štěpánka Průhová, Erling Tjora, Stefan Johansson, Pål R. Njølstad, Khadija El Jellas
Publikováno v:
Journal of Clinical Endocrinology and Metabolism (JCEM)
e1455-e1466
e1455-e1466
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 been attributed to mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::102350a1b6748b3b9eb88566e73ff593
https://hdl.handle.net/11250/3010967
https://hdl.handle.net/11250/3010967
Autor:
Karianne Fjeld, Anny Gravdal, Ranveig S. Brekke, Jahedul Alam, Steven J. Wilhelm, Khadija El Jellas, Helene N. Pettersen, Jianguo Lin, Marie H. Solheim, Solrun J. Steine, Bente B. Johansson, Pål R. Njølstad, Caroline S. Verbeke, Xunjun Xiao, Mark E. Lowe, Anders Molven
Publikováno v:
Pancreatology
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 (CP). Our aim was to de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392ebba5573b6e35d402ab26644c8021
http://hdl.handle.net/10852/98008
http://hdl.handle.net/10852/98008
Autor:
Ole A. Andreassen, Stefan Johansson, Bente B. Johansson, Christopher Flatley, Petur Benedikt Juliusson, Camilla Stoltenberg, Oddgeir L. Holmen, Jonas Bacelis, Kjennerud Tr, Øyvind Helgeland, Per Magnus, Marc Vaudel, Koløen Il, Pol Solé-Navais, Julius Juodakis, Gun Peggy Knudsen, Pål R. Njølstad, Bo Jacobsson
To elucidate the role of common genetic variation on infant and child weight development, we performed genome-wide association studies across 12 time points from birth to eight years in 28,681 children and their parents (27,088 mothers and 26,239 fat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b825391bb668ceca35851fa0c74a837
https://doi.org/10.1101/2021.05.04.21256508
https://doi.org/10.1101/2021.05.04.21256508
Autor:
Xunjun Xiao, Bente B. Johansson, Miriam Cnop, Anders Molven, Mark E. Lowe, Karianne Fjeld, K. El Jellas, Anny Gravdal, Pål R. Njølstad
Variable number of tandem repeat (VNTR) sequences present in the genome can have functional consequences that contribute to human disease. This is the case for theCELgene, which encodes the digestive enzyme carboxyl ester lipase.CELhas a VNTR located
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54855b2c1297867b9eaa454af9c7ecc9
https://doi.org/10.1101/2020.12.23.424204
https://doi.org/10.1101/2020.12.23.424204
Publikováno v:
Diabetes. 69
MODY8 (maturity onset diabetes of the young, type 8) is a dominantly inherited monogenic form of diabetes. This disease is associated with frameshift mutations in the carboxyl ester lipase (CEL) gene expressed by pancreatic acinar tissue. Patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4010f6437e2ba0c7e2142e2bd28fe1b
https://doi.org/10.2337/db20-83-or
https://doi.org/10.2337/db20-83-or
Autor:
Alba Kaci, Bente B. Johansson, Linda Jeng, Monika Ringdal, Pål R. Njølstad, Janne Molnes, Haichen Zhang, Kristin A. Maloney, Jeffrey W. Kleinberger, Aishwarya Pavithram, Toni I. Pollin, Jørn V. Sagen
Publikováno v:
Diabetes. 69
Genetic variants in HNF1B encoding the transcription factor hepatocyte nuclear factor-1 beta (HNF-1B) cause Maturity-Onset Diabetes of the Young type 5 (MODY5; HNF1B-MODY) and are the most common known monogenic cause of developmental kidney disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77f6f66880119085fcd204d42feac435
https://doi.org/10.2337/db20-1638-p
https://doi.org/10.2337/db20-1638-p
Autor:
Wen-Bin Zou, Tomasz Stokowy, Dag Hoem, Claudia Ruffert, Claude Férec, Solrun J. Steine, Emmanuelle Masson, Khadija El Jellas, Jian-Min Chen, Bente B. Johansson, Monica Dalva, Zhao-Shen Li, Pål R. Njølstad, Anders Molven, Stefan Johansson, Zhuan Liao, Jonas Rosendahl, Karianne Fjeld, Anny Gravdal, Jin-Huan Lin, Patrick Michl
Publikováno v:
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 20(3)
Background/objectives Carboxyl ester lipase is a pancreatic enzyme encoded by CEL, an extremely polymorphic human gene. Pathogenic variants of CEL either increases the risk for chronic pancreatitis (CP) or cause MODY8, a syndrome of pancreatic exocri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1161546d539d521b39042dc640cb03da
https://pubmed.ncbi.nlm.nih.gov/32007358
https://pubmed.ncbi.nlm.nih.gov/32007358