Mutation detection is important in all areas of biology. Detection of unknown mutations can
involve sequencing of kilobases of DNA, often in many patients. This has lead to the …

We utilized the Cre/lox recombination system to develop the first knock-in murine model for
osteogenesis imperfecta (OI). The moderately severe OI phenotype was obtained from an α1 …

The clinical phenotype in osteogenesis imperfecta (OI) is attributed to the dominant negative
function of mutant type I collagen molecules in the extracellular matrix, by altering its …

Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in
cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) and cyclophilin B …

As the analysis of the human genome proceeds at an ever-increasing pace, many genes
have been identified which are the site for mutations responsible for inherited diseases. The …

To reveal the biocompatibility of TiMo12Zr6Fe2 (TMZF), a new titanium alloy used since
1998 for orthopaedic prosthesis, we compared the behavior of primary human fibroblasts …

Mutations in COL1A1 and COL1A2 genes, encoding the α1 and α2 chain of type I collagen,
respectively, are responsible for the vast majority of cases of osteogenesis imperfecta …

Prolidase is a naturally occurring enzyme involved in the final stage of protein catabolism.
Deficient enzyme activity causes prolidase deficiency (PD), a rare autosomal recessive …

In previous work, we compared the steady‐state levels of specific matrix components in
human bone cells derived from patients with osteogenesis imperfecta (OI) to those of age …

Mutations in the genes encoding for type V collagen have been found in the classical type of
Ehlers–Danlos syndrome (EDS); the most common mutations lead to a non-functional …