Aileen M. Barnes

TL;DR: The data on genotype–phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events.

TL;DR: Clinical management of osteogenesis imperfecta is multidisciplinary, encompassing substantial progress in physical rehabilitation and surgical procedures, management of hearing, dental and pulmonary abnormalities, as well as drugs, such as bisphosphonates and recombinant human growth hormone.

TL;DR: The first five cases of a new recessive bone disorder resulting from null LEPRE1 alleles are presented; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features and a mutant allele from West Africa occurs in four of five cases.

TL;DR: Three of 10 children with lethal or severe osteogenesis imperfecta were found to have a recessive condition resulting in CRTAP deficiency, suggesting that prolyl 3-hydroxylation of type I collagen is important for bone formation.

TL;DR: The fibril domain model provides potential insights into the genotype-phenotype relationship for several classes of human connective tissue diseases, mechanisms of integrin clustering by fibrils, the polarity of fibrill assembly, heterotypic fibrIL function, and connectedive tissue pathology in diabetes and aging.