Extracellular matrices (ECM s) are highly specialized and dynamic three‐dimensional (3D)
scaffolds into which cells reside in tissues. ECM is composed of a variety of fibrillar …

Basement membranes are delicate, nanoscale and pliable sheets of extracellular matrices
that often act as linings or partitions in organisms. Previously considered as passive …

Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

Like the major theme of a Mozart concerto, the immense and pervasive extracellular matrix
drives each movement and ultimately closes the symphony, embracing a unique role as the …

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies …

Background: Collagen type VI alpha 1 (COL6A1) has been found to be dysregulated in
several human malignancies. However, the role of COL6A1 in osteosarcoma (OS) …

We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …

Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause
a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich …

Fibrosis of visceral organs such as the lungs, heart, kidneys and liver remains a major cause
of morbidity and mortality and is also associated with many other disorders, including cancer …

Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and
collagens are a key component required for BM function. While collagen IV is the major BM …