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

por Molnes, Janne, Teigen, Knut, Aukrust, Ingvild, Bjørkhaug, Lise, Søvik, Oddmund, Flatmark, Torgeir, Njølstad, Pål Rasmus
Publicado 2011

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

por Kind, Laura, Raasakka, Arne, Molnes, Janne, Aukrust, Ingvild, Bjørkhaug, Lise, Njølstad, Pål Rasmus, Kursula, Petri, Arnesen, Thomas
Publicado 2022

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

por Eifes, Serge, Chudasama, Kishan K, Molnes, Janne, Wagner, Kerstin, Hoang, Tuyen, Schierloh, Ulrike, Rocour-Brumioul, Danielle, Johansson, Stefan, Njølstad, Pål R, de Beaufort, Carine
Publicado 2013

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

por Najmi, Laeya Abdoli, Aukrust, Ingvild, Flannick, Jason, Molnes, Janne, Burtt, Noel, Molven, Anders, Groop, Leif, Altshuler, David, Johansson, Stefan, Bjørkhaug, Lise, Njølstad, Pål Rasmus
Publicado 2017

Exome Sequencing and Genetic Testing for MODY

por Johansson, Stefan, Irgens, Henrik, Chudasama, Kishan K., Molnes, Janne, Aerts, Jan, Roque, Francisco S., Jonassen, Inge, Levy, Shawn, Lima, Kari, Knappskog, Per M., Bell, Graeme I., Molven, Anders, Njølstad, Pål R.
Publicado 2012

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

por El Jellas, Khadija, Dušátková, Petra, Haldorsen, Ingfrid S, Molnes, Janne, Tjora, Erling, Johansson, Bente B, Fjeld, Karianne, Johansson, Stefan, Průhová, Štěpánka, Groop, Leif, Löhr, J Matthias, Njølstad, Pål R, Molven, Anders
Publicado 2021

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

por Svalastoga, Pernille, Kaci, Alba, Molnes, Janne, Solheim, Marie H., Johansson, Bente B., Krogvold, Lars, Skrivarhaug, Torild, Valen, Eivind, Johansson, Stefan, Molven, Anders, Sagen, Jørn V., Søfteland, Eirik, Bjørkhaug, Lise, Tjora, Erling, Aukrust, Ingvild, Njølstad, Pål R.
Publicado 2023

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

por Murphy, Rinki, Colclough, Kevin, Pollin, Toni I., Ikle, Jennifer M., Svalastoga, Pernille, Maloney, Kristin A., Saint-Martin, Cécile, Molnes, Janne, Misra, Shivani, Aukrust, Ingvild, de Franco, aiElisa, Flanagan, Sarah E., Njølstad, Pål R., Billings, Liana K., Owen, Katharine R, Gloyn, Anna L
Publicado 2023

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

por Murphy, Rinki, Colclough, Kevin, Pollin, Toni I., Ikle, Jennifer M., Svalastoga, Pernille, Maloney, Kristin A., Saint-Martin, Cécile, Molnes, Janne, Misra, Shivani, Aukrust, Ingvild, de Franco, Elisa, Flanagan, Sarah E., Njølstad, Pål R., Billings, Liana K., Owen, Katharine R., Gloyn, Anna L.
Publicado 2023

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

por Althari, Sara, Najmi, Laeya A., Bennett, Amanda J., Aukrust, Ingvild, Rundle, Jana K., Colclough, Kevin, Molnes, Janne, Kaci, Alba, Nawaz, Sameena, van der Lugt, Timme, Hassanali, Neelam, Mahajan, Anubha, Molven, Anders, Ellard, Sian, McCarthy, Mark I., Bjørkhaug, Lise, Njølstad, Pål Rasmus, Gloyn, Anna L.
Publicado 2020