J. Molnes

发表

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

F. Ashcroft, T. Frayling, A. Hattersley, 2004, The New England journal of medicine.

Human pancreatic glucokinase. Structural and physico-chemical studies related to catalytic activation, kinetic cooperativity and GCK-diabetes.

J. Molnes, 2012 .

Catalytic activation of human glucokinase by substrate binding – residue contacts involved in the binding of D‐glucose to the super‐open form and conformational transitions

P. Njølstad, O. Søvik, T. Flatmark, 2008, The FEBS journal.

The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.

A. Molven, P. Njølstad, O. Søvik, 2017, Diabetes research and clinical practice.

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

A. Molven, P. Njølstad, O. Søvik, 2012, Biochimica et biophysica acta.

Impact of overweight on glucose homeostasis in MODY2 and MODY3

P. Njølstad, P. Juliusson, J. Molnes, 2021, Diabetic medicine : a journal of the British Diabetic Association.

HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

A. Molven, P. Njølstad, O. Søvik, 2012, Pediatric diabetes.

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2–SUR1 interactions

F. Ashcroft, P. Njølstad, J. Molnes, 2005, The EMBO journal.

Allosteric Activation of Human Glucokinase by Free Polyubiquitin Chains and Its Ubiquitin-dependent Cotranslational Proteasomal Degradation*

P. Njølstad, O. Søvik, T. Flatmark, 2007, Journal of Biological Chemistry.

Epidermal growth factor receptor efficiently activates mitogen-activated protein kinase in HeLa cells and Hep2 cells conditionally defective in clathrin-dependent endocytosis.

L. E. Johannessen, I. Madshus, J. Molnes, 2000, Experimental cell research.

A systematic mapping of the genomic and proteomic variation associated with monogenic diabetes

M. Udler, P. Njølstad, A. Manning, 2023, bioRxiv.

Exome Sequencing and Genetic Testing for MODY

J. Aerts, I. Jonassen, S. Levy, 2012, PloS one.

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

D. Altshuler, L. Groop, J. Flannick, 2016, Diabetes.

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation

M. McCarthy, S. Ellard, A. Mahajan, 2020, American journal of human genetics.

Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation

M. McCarthy, S. Ellard, A. Gloyn, 2019, medRxiv.

Human pancreatic glucokinase

J. Molnes, 2012 .

SUMOylation of Pancreatic Glucokinase Regulates Its Cellular Stability and Activity*

S. Gygi, P. Njølstad, O. Søvik, 2013, The Journal of Biological Chemistry.

A systematic mapping of the genomic and proteomic variation associated with monogenic diabetes

M. Udler, P. Njølstad, A. Manning, 2023, bioRxiv.

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

A. Hattersley, A. Gloyn, A. Molven, 2004, Diabetes.

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

S. Levy, A. Molven, P. Njølstad, 2017, Diabetologia.

Monogenic diabetes mellitus in Norway

P. Njølstad, H. Ræder, L. Bjørkhaug, 2013 .

Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children

V. Mohan, V. Radha, R. Unnikrishnan, 2013, Clinical genetics.

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry

A. Molven, P. Njølstad, O. Søvik, 2013, Diabetologia.

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry

A. Molven, P. Njølstad, O. Søvik, 2008, Pediatric diabetes.

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

A. Molven, P. Njølstad, O. Søvik, 2003, Diabetes.

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

B. Lie, P. Njølstad, E. Tjora, 2013, Pediatric diabetes.

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Stefan Johansson, Jason Flannick, Christopher J O'Donnell, 2013, Nature Genetics.

Binding of ATP at the active site of human pancreatic glucokinase – nucleotide-induced conformational changes with possible implications for its kinetic cooperativity

P. Njølstad, O. Søvik, T. Flatmark, 2011, The FEBS journal.

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes

Kristin A. Maloney, K. Owen, A. Gloyn, 2023, medRxiv.

GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation

P. Njølstad, O. Søvik, T. Flatmark, 2014, Molecular and Cellular Endocrinology.

GCK-MODY diabetes as a protein misfolding disease : The mutation R 275 C promotes protein misfolding

P. Njølstad, O. Søvik, T. Flatmark, 2013 .

A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes

C. de Beaufort, Serge Eifes, P. Njølstad, 2013, Clinical case reports.

Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants

P. Njølstad, T. Arnesen, P. Kursula, 2022, The Journal of biological chemistry.

Structural and biophysical characterization of HNF-1A as a tool to study MODY3 diabetes variants

P. Njølstad, T. Arnesen, P. Kursula, 2021, bioRxiv.

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

L. Groop, A. Molven, P. Njølstad, 2021, The Journal of clinical endocrinology and metabolism.

Maturity Onset Diabetes of the Young Type 2 (MODY2): Insight from an Extended Family.

J. Molnes, Y. Tenenbaum‐Rakover, Pål Rasmus Njølstad, 2021, Diabetes research and clinical practice.

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

Kristin A. Maloney, K. Owen, A. Gloyn, 2023, Communications medicine.

Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine

Kristin A. Maloney, J. Pankow, L. Redman, 2023, Nature Medicine.

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes

E. Søfteland, Eivind Valen, A. Molven, 2023, Diabetologia.

Disease-modifying therapies and features linked to treatment response in type 1 diabetes prevention: a systematic review

Kristin A. Maloney, J. Pankow, A. Hattersley, 2023, Communications medicine.

Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes

M. Udler, Marc Vaudel, J. Molnes, 2024, PloS one.

Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.

T. Arnesen, P. Kursula, E. Tjora, 2024, JCI insight.