Blar i Bergen Open Research Archive på forfatter "Choi, Man Hung"
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Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro
Velasco Pinto, Kelly; St-Louis, Johanna; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål Rasmus; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line Merethe; Molven, Anders (Journal article; Peer reviewed, 2021)Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as ... -
KRAS mutation analysis by droplet digital PCR of duodenal juice from patients with MODY8 and other pancreatic diseases
Choi, Man Hung; Tjora, Erling; Forthun, Rakel Brendsdal; Engjom, Trond; Ræder, Helge; Hovland, Randi; Molven, Anders (Journal article; Peer reviewed, 2021)Background Maturity-onset diabetes of the young type 8 (MODY8 or CEL-MODY) is an inherited pancreatic disease characterized by chronic inflammation of the pancreas and diabetes. It is not known whether MODY8 patients ... -
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 ... -
Mutation analysis by deep sequencing of pancreatic juice from patients with pancreatic ductal adenocarcinoma
Choi, Man Hung; Mejlænder-Andersen, Eline; Manueldas, Sophia; el Jellas, Khadija; Steine, Solrun; Tjensvoll, Kjersti; Sætran, Hege Aase; Knappskog, Stian; Hoem, Dag; Nordgård, Oddmund; Hovland, Randi; Molven, Anders (Peer reviewed; Journal article, 2019-01-05)Background Reliable methods are needed to identify patients with early-stage cancer or high-grade precancerous lesions in the pancreas. Analysis of pancreatic juice to detect somatic mutations could represent one such ...