PMID: 7520724May 1, 1994Paper

Osteogenesis imperfecta: comparison of molecular defects with bone histological changes

Bone
R SztrolovicsP J Roughley

Abstract

Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by a predisposition to bone fracturing, and usually resulting from mutations in the genes encoding type I collagen. This report describes the molecular defects in a patient with type II OI and another with type III OI. These patients were demonstrated to possess point mutations resulting in glycine-->arginine substitutions within the triple helical domain of the alpha 1(I) or alpha 2(I) collagen polypeptide chain. The defect in the type II OI patient affected residue 211 of the alpha 1(I) triple helical domain, and constitutes the most amino-terminal lethal glycine-->arginine substitution described to date. The substitution in the type III OI patient affected residue 427 of the alpha 2(I) triple helical domain. Both defects were informative in that they identified the regions of the alpha 1(I) and alpha 2(I) collagen chains in which the phenotypes associated with glycine-->arginine substitutions undergo a transition between lethal and nonlethal forms, thereby allowing a more reliable prognosis of disease severity. The histological examination of bone from these patients revealed striking abnormalities in the quantity and organization of mineralized bon...Continue Reading

References

Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·F SangerA R Coulson
Apr 1, 1979·Journal of Medical Genetics·D O SillenceD M Danks
Aug 1, 1992·PCR Methods and Applications·W V WilliamsD B Weiner
Apr 1, 1991·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·H KuivaniemiD J Prockop
Aug 25, 1987·Nucleic Acids Research·M Dean
Dec 1, 1989·Analytical Biochemistry·H H DahlJ F Bateman
Dec 1, 1987·Archives of Dermatology·S R PinnelD Darr
Jan 1, 1988·Annals of the New York Academy of Sciences·D O Sillence
Jun 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·R G CottonR D Campbell
Jan 1, 1983·Methods in Enzymology·J Messing
Jun 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·G S BarshP H Byers
Jan 1, 1994·Matrix Biology : Journal of the International Society for Matrix Biology·R SztrolovicsP J Roughley

❮ Previous
Next ❯

Citations

Aug 20, 2010·Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association·Takashi FujinoYasunori Fujioka
Apr 1, 1995·Journal of Medical Genetics·W G Cole, R Dalgleish
Feb 23, 1999·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·P A DawsonJ C Marini
Sep 2, 2003·Veterinary Pathology·F SeeligerM Hewicker-Trautwein
Nov 1, 1994·Journal of Toxicology and Environmental Health·R C GuptaW L Kadel
Dec 1, 1994·Journal of Toxicology and Environmental Health·R C Gupta
Aug 1, 1994·Journal of Toxicology and Environmental Health·R C GuptaW L Kadel
Jul 31, 1998·The Journal of the American Academy of Orthopaedic Surgeons·M S Kocher, F Shapiro

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.