Publication Year: 2016

Protein degradation fragments as diagnostic and prognostic biomarkers of connective tissue diseases: understanding the extracellular matrix message and implication for current and future serological biomarkers.

January 1, 2016

Expert Rev Proteomics

Abstract The aim of this review is to discuss the potential usefulness of novel biochemical markers of connective tissues: neo-epitopes of extracellular matrix proteins generated by post-translational modifications by tissue proteinases. As each modification results from a specific local physiological or pathobiological process, the identification of specific proteinase-mediated cleavage products of tissue-specific proteins may produce […]

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Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.

January 1, 2016

J Bone Miner Res

Abstract We conducted a genome-wide association study of low bone mineral density (BMD) at the hip and spine utilizing sequence variants found through whole-genome sequencing of 2636 Icelanders. We found two rare missense mutations, p.Gly496Ala and p.Gly703Ser, in the COL1A2 gene that associate with measures of osteoporosis in Icelanders. Mutations in COL1A2 are known to […]

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Collagen and tissue turnover as a function of age: Implications for fibrosis.

January 1, 2016

J Hepatol

Abstract BACKGROUND & AIMS The extracellular matrix (ECM) is the backbone of all tissues. It is a complex grid consisting of multiple structural proteins which each play a vital role for the function and maintenance of normal tissue function. In development and growth, tissue is being formed and elaborated (tissue modeling), while in adult life, […]

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Osteoarthritis year in review 2015: soluble biomarkers and the BIPED criteria.

January 1, 2016

Osteoarthritis Cartilage

Abstract OBJECTIVE To review and summarize biomarker data published from April 2014 to May 2015 to provide insight to the ongoing work in the field of osteoarthritis (OA). Furthermore, to summarize the BIPED criteria and set it in context of the medical needs of 2015. METHODS PubMed was used as searching machine: Time period 2014/04/01-2015/05/01, […]

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Inflammation (or synovitis)-driven osteoarthritis: an opportunity for personalizing prognosis and treatment?

January 1, 2016

Scand J Rheumatol

Abstract The disabling and painful disease osteoarthritis (OA) is the most common form of arthritis. Strong evidence suggests that a subpopulation of OA patients has a form of OA driven by inflammation. Consequently, understanding when inflammation is the driver of disease progression and which OA patients might benefit from anti-inflammatory treatment is a topic of […]

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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy.

January 1, 2016

Eur J Hum Genet

Abstract Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of the phenylalanine-tyrosine catabolic pathway. We analysed DNA of 40 AKU patients enrolled for SONIA1, the […]

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