During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

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 …

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia,
cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; …

Collagen XI is a fibril-forming collagen that regulates collagen fibrillogenesis. Collagen XI is
normally associated with collagen II-containing tissues such as cartilage, but it also is …

Osteoarthritis (OA) is the most common form of arthritis with well recognized multifactorial
nature. While several environmental factors such as older age, obesity and previous joint …

Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen
molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1 …

Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations
in different collagen genes. The aim of our study was to define more precisely the phenotype …

Stickler syndrome is characterized by ocular, auditory, skeletal, and orofacial abnormalities.
We describe a family with autosomal recessive Stickler syndrome. The main clinical findings …

Mutations in the genes for extracellular matrix (ECM) components cause a wide range of
genetic connective tissues disorders throughout the body. The elucidation of mutations and …

Background Stickler syndrome is a connective tissue disorder characterized by ocular,
skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes …