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 …

Cartilage is essential for skeletal development by endochondral ossification. The only cell
type within the tissue, the chondrocyte, is responsible for the production of macromolecules …

The evolution of multicellular metazoan organisms was marked by the inclusion of an
extracellular matrix (ECM), a multicomponent, proteinaceous network between cells that …

Osteoarthritis (OA) is a common age‑related joint disorder, for which no effective disease‑
modifying drugs are currently available. Long non‑coding RNAs (lncRNAs) are involved in …

The vast majority of reported (likely) pathogenic missense variants in the genes coding for
the fibrillar collagens leads to the substitution of one of the obligatory glycine residues in the …

Objective To test the genetic contribution of rare missense variants in COL4A1 and COL4A2
in which common variants are genetically associated with sporadic intracerebral …

The diverse application of collagen has created a need to discover renewable and
economical sources with prevailing/improved physico-chemical properties. To address this …

The incorporation of histone variants has structural ramifications on nucleosome dynamics
and stability. Due to their unique sequences, histone variants can alter histone–histone or …

Intellectual disabilities (ID) and autism spectrum disorders (ASD) have a variety of etiologies,
including environmental and genetic factors. Our study reports a psychiatric clinical …

Mutations in collagen genes cause a broad range of connective tissue pathologies.
Structural mutations that impact procollagen assembly or triple helix formation and stability …