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Osteogenesis imperfecta (OI), a heritable disorder caused by abnormalities in synthesis or processing of type I collagen, is characterized by skeletal fragility. Type I collagen interacts with multiple components of the extracellular matrix (ECM) including other collagens types. Thus, alterations in...
January 4, 2021
Journal:
Bone
Author:
Nicol L, Srikanth P, Henriksen K, Sun S, Smith R, Karsdal MA, Nagamani SCS, Shapiro J, Lee B, Leder BZ, Orwoll E
Introduction: Variants in collagen-related genes COL1A1, COL3A1, COL5A1 and COL5A2 are associated with Ehlers-Danlos syndrome (EDS), a heterogeneous group of connective tissue disorders strongly associated with increased bleeding. Of patients with incompletely explained bleeding diathesis, a relativ...
November 20, 2020
Journal:
Haemophilia
Author:
Fager Ferrari M, Zetterberg E, Rossing M, Manon-Jensen T, Pehrsson M, Karsdal MA, Lykkesfeldt J, Leinoe E
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