SPARC/osteonectin in mineralized tissue

EM Rosset, AD Bradshaw - Matrix Biology, 2016 - Elsevier
Secreted protein acidic and rich in cysteine (SPARC/osteonectin/BM40) is one of the most
abundant non-collagenous protein expressed in mineralized tissues. This review will focus …

Osteogenesis imperfecta

JC Marini, WA Cabral - Genetics of bone biology and skeletal disease, 2018 - Elsevier
Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

From structure to phenotype: impact of collagen alterations on human health

L Arseni, A Lombardi, D Orioli - International journal of molecular sciences, 2018 - mdpi.com
The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …

Collagen transport and related pathways in Osteogenesis Imperfecta

L Claeys, S Storoni, M Eekhoff, M Elting, L Wisse… - Human genetics, 2021 - Springer
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone
fragility and deformities as the main characteristics, albeit with different degrees of severity …

Mechanisms of bone fragility: from osteogenesis imperfecta to secondary osteoporosis

A El-Gazzar, W Högler - International Journal of Molecular Sciences, 2021 - mdpi.com
Bone material strength is determined by several factors, such as bone mass, matrix
composition, mineralization, architecture and shape. From a clinical perspective, bone …

Osteogenesis imperfecta—Pathophysiology and therapeutic options

J Etich, L Leßmeier, M Rehberg, H Sill… - Molecular and cellular …, 2020 - Springer
Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity
characterized by skeletal deformity and increased bone fragility as well as additional …

Osteogenesis imperfecta and therapeutics

R Morello - Matrix Biology, 2018 - Elsevier
Osteogenesis imperfecta, or brittle bone disease, is a congenital disease that primarily
causes low bone mass and bone fractures but it can negatively affect other organs. It is …

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

U Lindert, WA Cabral, S Ausavarat… - Nature …, 2016 - nature.com
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked
recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease …

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

AM Alazami, SM Al-Qattan, E Faqeih, A Alhashem… - Human genetics, 2016 - Springer
Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the
connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the …

Myocardial fibrosis from the perspective of the extracellular matrix: mechanisms to clinical impact

IG Lunde, KB Rypdal, S Van Linthout, J Diez… - Matrix Biology, 2024 - Elsevier
Fibrosis is defined by the excessive accumulation of extracellular matrix (ECM) and
constitutes a central pathophysiological process that underlies tissue dysfunction, across …