Suchergebnisse - "Fjeld, Karianne"

PubPharm (49)

1

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

enthalten in: Human molecular genetics | 2024

von Brekke, R. | Gravdal, A. | El Jellas, K. | +11

2

The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice

enthalten in: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al. | 2022

von Fjeld, K. | Gravdal, A. | Brekke, R. | +13

3

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis : How to Correctly Identify MODY8 Cases

enthalten in: The Journal of clinical endocrinology and metabolism | 2022

von El Jellas, K. | Dušátková, P. | Haldorsen, I. | +10

4

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines pathogenicity

enthalten in: bioRxiv.org | 2021

von Gravdal, A. | Xiao, X. | Cnop, M. | +6

5

Protein misfolding in combination with other risk factors in CEL-HYB1-mediated chronic pancreatitis

enthalten in: European journal of gastroenterology & hepatology | 2021

von Tjora, E. | Gravdal, A. | Engjom, T. | +5

6

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity

enthalten in: The Journal of biological chemistry | 2021

von Gravdal, A. | Xiao, X. | Cnop, M. | +7

7

Functional evaluation of 16 SCHAD missense variants : Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro

enthalten in: Journal of inherited metabolic disease | 2021

von Velasco, K. | St-Louis, J. | Hovland, H. | +10

8

Functional evaluation of 16 SCHAD missense variants : Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro

enthalten in: Journal of Inherited Metabolic Disease | 2021

von Velasco, K. | St‐Louis, J. | Hovland, H. | +10

9

Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding

enthalten in: Human mutation | 2020

von Cassidy, B. | Zino, S. | Fjeld, K. | +3

10

Characterization of CEL-DUP2 : Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis

enthalten in: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al. | 2020

von Fjeld, K. | Masson, E. | Lin, J. | +18

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