Clinical and molecular studies of diabetes and pancreatic exocrine dysfunction
- Prosjektnummer
- 911578
- Ansvarlig person
- Helge Ræder
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskerutdanning - postdoc
- Helsekategori
- Metabolic and Endocrine
- Forskningsaktivitet
- 1. Underpinning
Using Proteomics Bioinformatics Tools and Resources in Proteogenomic Studies.
Adv Exp Med Biol 2016;926():65-75.
PMID: 27686806
Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia.
Stem Cell Reports 2016 Mar 08;6(3):357-67. Epub 2016 feb 11
PMID: 26876668
Systemic Analysis of Regulated Functional Networks.
Methods Mol Biol 2016;1394():287-310.
PMID: 26700057
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.
Eur J Endocrinol 2016 Feb;174(2):125-36. Epub 2015 nov 5
PMID: 26543054
Exploring the potential of public proteomics data.
Proteomics 2016 Jan;16(2):214-25. Epub 2015 des 15
PMID: 26449181
The Chromosome 9p21 CVD- and T2D-Associated Regions in a Norwegian Population (The HUNT2 Survey).
Int J Endocrinol 2015;2015():164652. Epub 2015 mai 18
PMID: 26089876
Carboxyl-ester lipase maturity-onset diabetes of the young disease protein biomarkers in secretin-stimulated duodenal juice.
J Proteome Res 2015 Jan 2;14(1):521-30. Epub 2014 nov 4
PMID: 25369532
Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluid.
Diabetes 2014 Jan;63(1):259-69. Epub 2013 sep 23
PMID: 24062244
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
BMC Genet 2014;15(1):98. Epub 2014 sep 24
PMID: 25249269
Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations.
Pancreas 2013 Oct;42(7):1078-84.
PMID: 23770712
Exocrine pancreatic function in hepatocyte nuclear factor 1ß-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.
Diabet Med 2013 Aug;30(8):946-55. Epub 2013 apr 19
PMID: 23600988
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.
J Bone Miner Res 2013 Jun;28(6):1378-85.
PMID: 23325605
Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young).
PLoS One 2013;8(4):e60229. Epub 2013 apr 2
PMID: 23565203
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young.
J Biol Chem 2013 Feb 22;288(8):5353-6. Epub 2013 jan 10
PMID: 23306198
HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
Pediatr Diabetes 2012 Mar;13(2):e1-5. Epub 2011 jul 19
PMID: 21767339
[Tailored medicine or narcissomics?].
Tidsskr Nor Laegeforen 2012 Sep;132(16):1844-5.
PMID: 22986961
- Helge Ræder Postdoktor
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
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