J
Joan C. Marini
Researcher at National Institutes of Health
Publications - 172
Citations - 9680
Joan C. Marini is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Osteogenesis imperfecta & Type I collagen. The author has an hindex of 49, co-authored 162 publications receiving 8762 citations. Previous affiliations of Joan C. Marini include Johns Hopkins University School of Medicine & Johns Hopkins University.
Papers
More filters
Journal ArticleDOI
COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II
TL;DR: Unlike the genotype/phenotype relationship seen for type I collagen defects and osteogenesis imperfecta, the null allele in this family appears to cause clinical features similar to those seen in cases with structural alterations in type V collagen.
Journal ArticleDOI
Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids
TL;DR: This strategy for detection and isolation has wide application not only for mutations causing connective tissue disorders, but also for mutations in other large and repetitive genes.
Journal ArticleDOI
Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.
TL;DR: It is demonstrated that popcorn calcifications are a frequent feature of severe OI, but do not distinguish cases with defects in collagen structure (primarily dominant type III OI) or modification (recessive type VIII OI).
Journal ArticleDOI
Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
TL;DR: Two novel substitutions for glycine in the alpha 2(I) chain are described, one associated with a lethal phenotype in twins and the other with a moderate non-lethal phenotype, which support a regional, as opposed to a gradient, model of OI pathophysiology.
Journal ArticleDOI
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen
Adriana P. Sarafova,Hyeon Choi,Antonella Forlino,Anna Gajko,Wayne A. Cabral,Laura L. Tosi,C. Michael Reing,Joan C. Marini +7 more
TL;DR: In three cases of type IV osteogenesis imperfecta (OI), the appearance of dimers indicated the presence of cysteine substitutions in the α1(I) protein chain, and the overmodification pattern of the CNBr peptides was compatible with a substitution in the aa 123–402 region of either type I collagen chain.