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
Background: Infantile malignant osteopetrosis (IMO) is an autosomal recessive disorder characterized by non-functional osteoclasts and a fatal outcome early in childhood. About 50% of patients have mutations in the TCIRG1 gene. Methods: IMO iPSCs were generated from a patient carrying a homozygous ...
May 15, 2020
Journal:
Stem Cells Res Ther
Author:
Xian X, Moraghebi R, Löfvall H, Fasth A, Henriksen K, Richter J, Woods NB, Moscatelli I
Osteoarthritis (OA) is a disease of the whole joint, including synovium, bone and cartilage. OA is a slow degenerative and very heterogeneous disease, with both varying levels of disease activity and progression. Biomarkers are urgently needed to assist drug developers in selecting and developing th...
Background: Excessive cartilage degradation is a known characteristic of osteoarthritis (OA). Biochemical markers, such as uCTX-II, have been shown to be associated with disease severity, yet the tissue origin of CTX-II has been disputed. This analysis investigates the association between OA knee jo...
September 3, 2019
Journal:
Arthritis Res Ther
Author:
Bihlet AR, Byrjalsen I, Bay-Jensen AC, Andersen JR, Christiansen C, Riis BJ, Karsdal MA
Infantile malignant osteopetrosis (IMO) is an autosomal recessive disorder characterized by nonfunctional osteoclasts. Approximately 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. Gene therapy represents a potential alternative treatment ...
June 10, 2019
Journal:
Hum Gene Ther
Author:
Löfvall H, Rothe M, Schambach A, Henriksen K, Richter J, Moscatelli I
OBJECTIVES: Pain and disability are the main clinical manifestations of osteoarthritis, for which only symptomatic therapies are available. Hence, there is a need for therapies that can simultaneously alter disease progression and provide pain relief. KBP is a dual amylin- and calcitonin-receptor ag...
June 5, 2019
Journal:
Osteoarthritis Cartilage
Author:
Katri A, Dabrowska A, Karsdal MA, Andreassen KV, Thudium CS, Henriksen K, Löfvall H
BACKGROUND: Several epidemiological studies have shown an association between bone mineral density (BMD) and risk of breast cancer in postmenopausal women, but it remains unknown whether bone turnover is associated with increased risk of cancer. The aim of this study was to investigate if markers of...
C-telopeptide of type II collagen (CTX-II) has been shown to be a highly relevant biomarker of cartilage degradation in human rheumatic diseases, if measured in synovial fluid or urine. However, serum or plasma CTX-II have not been demonstrated to have any clinical utility to date. Here, we describe...
February 28, 2019
Journal:
Sci Rep
Author:
Löfvall H, Katri A, Dabrowska A, Karsdal MA, Luo Y, He Y, Manon-Jensen T, Dziegiel MH, Bay-Jensen AC, Thudium CS, Henriksen K
BACKGROUND: Pain is a debilitating symptom of rheumatoid arthritis (RA), caused by joint inflammation and cartilage and bone destruction. Nonsteroidal anti-inflammatory drugs (NSAIDs) are used to treat pain and inflammation in RA, but are not disease-modifying and do not prevent joint destruction wh...
February 22, 2019
Journal:
Arthritis Res Ther
Author:
Katri A, Dabrowska A, Löfvall H, Ding M, Karsdal MA, Andreassen KV, Henriksen K, Thudium CS
Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast p...
January 12, 2019
Journal:
Hum Genet.
Author:
Segovia-Silvestre T, Neutzsky-Wulff AV, Sorensen MG, Christiansen C, Bollerslev J, Karsdal MA, Henriksen K
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