Exome Sequencing in Monogenic Diabetes
- Prosjektnummer
- 911741
- Ansvarlig person
- Pål Rasmus Njølstad
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Congenital Disorders, Metabolic and Endocrine
- Forskningsaktivitet
- 2. Aetiology, 5. Treatment Developement
Infant Growth and Risk of Childhood-Onset Type 1 Diabetes in Children From 2 Scandinavian Birth Cohorts.
JAMA Pediatr 2015 Dec 7;169(12):e153759. Epub 2015 des 7
PMID: 26642117
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.
Clin Genet 2015 Oct 24. Epub 2015 okt 24
PMID: 26497935
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
J Clin Endocrinol Metab 2015 Dec;100(12):E1540-9. Epub 2015 okt 2
PMID: 26431509
Lipase gene fusion: a new route to chronic pancreatitis.
Oncotarget 2015 Oct 13;6(31):30443-4.
PMID: 26387137
Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis.
PLoS Med 2015 Aug;12(8):e1001865. Epub 2015 aug 18
PMID: 26284790
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
All-cause mortality in a nationwide cohort of childhood-onset diabetes in Norway 1973-2013.
Diabetologia 2015 Aug;58(8):1779-86. Epub 2015 mai 14
PMID: 25972232
Classifying insulin regimens--difficulties and proposal for comprehensive new definitions.
Pediatr Diabetes 2015 Sep;16(6):402-6. Epub 2015 apr 10
PMID: 25865149
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.
Nat Genet 2015 May;47(5):518-22. Epub 2015 mar 16
PMID: 25774637
Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release.
J Clin Endocrinol Metab 2015 May;100(5):E767-75. Epub 2015 mar 9
PMID: 25751106
The diagnosis and management of monogenic diabetes in children and adolescents.
Pediatr Diabetes 2014 Sep;15 Suppl 20():47-64.
PMID: 25182307
Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction.
J Biol Chem 2014 Oct 17;289(42):29097-111. Epub 2014 aug 25
PMID: 25160620
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Proc Natl Acad Sci U S A 2014 Sep 9;111(36):13127-32. Epub 2014 aug 25
PMID: 25157153
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
JAMA 2014 Jun 11;311(22):2305-14.
PMID: 24915262
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
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
Mol Cell Endocrinol 2014 Jan 25;382(1):55-65. Epub 2013 aug 31
PMID: 24001579
Assessment of exocrine pancreatic function by secretin-stimulated magnetic resonance cholangiopancreaticography and diffusion-weighted imaging in healthy controls.
J Magn Reson Imaging 2014 Feb;39(2):448-54. Epub 2013 mai 6
PMID: 23649590
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Nat Genet 2013 Nov;45(11):1380-5. Epub 2013 okt 6
PMID: 24097065
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
Am J Hum Genet 2013 Jul 11;93(1):150-7. Epub 2013 jun 27
PMID: 23810379
Do eating behaviors in the general population account for country variance in glycemic control among adolescents with diabetes: the Hvidoere Study Group and the Health Behaviour in School-Aged Children study.
Pediatr Diabetes 2013 Dec;14(8):554-61. Epub 2013 jun 17
PMID: 23773782
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
Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach.
Pediatr Diabetes 2013 Nov;14(7):473-80. Epub 2013 apr 30
PMID: 23627895
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.
Diabetologia 2013 Jul;56(7):1512-9. Epub 2013 apr 27
PMID: 23624530
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
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
The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis.
Pancreatology 2013 Jan-Feb;13(1):29-32. Epub 2012 des 20
PMID: 23395566
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
SUMOylation of pancreatic glucokinase regulates its cellular stability and activity.
J Biol Chem 2013 Feb 22;288(8):5951-62. Epub 2013 jan 7
PMID: 23297408
Mutations in HNF1A result in marked alterations of plasma glycan profile.
Diabetes 2013 Apr;62(4):1329-37. Epub 2012 des 28
PMID: 23274891
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
Pediatr Diabetes 2013 Sep;14(6):466-72. Epub 2012 sep 18
PMID: 22989030
Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009.
Pediatr Diabetes 2013 Sep;14(6):422-8. Epub 2012 sep 10
PMID: 22957743
Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.
Clin Genet 2013 May;83(5):439-45. Epub 2012 aug 20
PMID: 22831748
[Tailored medicine or narcissomics?].
Tidsskr Nor Laegeforen 2012 Sep;132(16):1844-5.
PMID: 22986961
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
Biochim Biophys Acta 2012 Nov;1822(11):1705-15. Epub 2012 jul 20
PMID: 22820548
Exome sequencing and genetic testing for MODY.
PLoS One 2012;7(5):e38050. Epub 2012 mai 25
PMID: 22662265
CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations.
Genes Immun 2012 Jul;13(5):431-6. Epub 2012 apr 19
PMID: 22513452
To test, or not to test: time for a MODY calculator?
Diabetologia 2012 May;55(5):1231-4. Epub 2012 mar 2
PMID: 22382521
The role of pancreatic imaging in monogenic diabetes mellitus.
Nat Rev Endocrinol 2012 Mar;8(3):148-59. Epub 2011 nov 29
PMID: 22124438
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
Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.
Pediatr Diabetes 2012 Mar;13(2):155-62. Epub 2011 apr 24
PMID: 21518169
Insights from monogenic diabetes.
The Genetics of Type 2 Diabetes and Related Traits - Biology, Physiology and Translation, 2015
Hvorfor får man monogen diabetes?
I: Vaaler S, Møinichen T (Ed): Diabeteshåndboken, pp. 45-52, Gyldendal Akademisk, 2014
Behandling av monogen diabetes
I: Vaaler S, Møinichen T (Ed): Diabeteshåndboken, pp. 99-102, Gyldendal Akademisk, 2014
Monogenic diabetes mellitus in Norway.
Norsk Epidemiologi 2013;23:55-60.
Type 2 diabetes genes: present status and data from Norwegian studies.
Norsk Epidemiologi 2013;23:9-22.
The role of the carboxyl ester lipase (CEL) gene in pancreatic disease.
Pancreatology 2013, in press.
The role of the carboxyl ester lipase (CEL) gene in pancreatic disease.
Pancreatology 2012, in press.
Type 2 diabetes genes: present status and data from Norwegian studies.
Norsk Epidemiology 2012, in press.
Monogenic diabetes mellitus in Norway.
Norsk Epidemiology 2012, in press.
The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase.
Frontiers in Diabetes, vol 21, pp. 137-145. Karger, Basel, 2012.
Behandling av monogen diabetes.
Diabeteshåndboken, Gyldendal. 2012, under trykking.
Hvorfor får man monogen diabetes?
Diabeteshåndboken, Gyldendal. 2012, under trykking.
A genome-wide approach to monogenic diabetes syndromes
- Disputert:
- januar 2014
- Hovedveileder:
- Pål Rasmus Njølstad
Novel endoscopic and MRI-based methods for evaluating exocrine function in pancreatitis and monogenic forms of diabetes.
- Disputert:
- november 2013
- Hovedveileder:
- Pål Rasmus Njølstad
Genetic Risk Factors for Type 2 Diabetes and Related Traits
- Disputert:
- juni 2012
- Hovedveileder:
- Pål Rasmus Njølstad
Phenotypic heterogeneity of mutations in glucokinase causing GCK-MODY (MODY2) diabetes: Studies of structure, function and regul
- Disputert:
- juni 2012
- Hovedveileder:
- Pål Rasmus Njølstad
Human pancreatic glucokinase; Structural and physico-chemical studies related to catalytic activation, kinetic cooperativity and
- Disputert:
- oktober 2012
- Hovedveileder:
- Pål Rasmus Njølstad
- Jan Inge Bjune Prosjektdeltaker
- Yngvild Bjørlykke Prosjektdeltaker
- Liv Aasmul Prosjektdeltaker
- Louise Grevle Prosjektdeltaker
- Monika Ringdal Prosjektdeltaker
- Marie Holm Solheim Ph.d.-kandidat
- Jørn V. Sagen Prosjektdeltaker
- Laeya Abdoli Najmi Ph.d.-kandidat
- Janne Molnes Prosjektdeltaker
- Henrik Underthun Irgens Ph.d.-kandidat
- Bente Berg Johansson Prosjektdeltaker
- Øyvind Helgeland Ph.d.-kandidat
- Lise Gundersen Prosjektdeltaker
- Monica Dalva Ph.d.-kandidat
- Helge Ræder Prosjektdeltaker
- Erling Tjora Prosjektdeltaker
- Ingvild Aukrust Prosjektdeltaker
- Stefan Johansson Prosjektdeltaker
- Anders Molven Prosjektdeltaker
- Pål Rasmus Njølstad Prosjektleder
- Kishankumar Chudasama Ph.d.-kandidat
- Lise Bj. Gundersen Prosjektdeltaker
- Anja Ragvin Prosjektdeltaker
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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