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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
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.
New perspectives on osteogenesis imperfecta
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.
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
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.
Bent helical structure in kinetoplast DNA.
- J. Marini, S. Levene, D. Crothers, P. T. Englund
- Chemistry, MedicineProceedings of the National Academy of Sciences…
- 1 December 1982
It is proposed that this molecule contains a region of systematically bent B-DNA, which accounts for the fragment's difficulty in snaking through the pores of a polyacrylamide gel, its ease in diffusing into Sephacryl beads, and its smaller rotational relaxation time.
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
- A. M. Barnes, Wei-zhong Chang, +14 authors J. Marini
- MedicineThe New England journal of medicine
- 28 December 2006
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.
Evaluation of oral problems in an osteogenesis imperfecta population.
Clinically, the color of the dentition was of predictive value in appropriate management of the primary dentition, and significant oral problems occur in types III and IV osteogenesis imperfecta.
Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates*
- S. Sweeney, J. Orgel, +12 authors J. S. Antonio
- Biology, MedicineJournal of Biological Chemistry
- 25 July 2008
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.
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
- A. M. Barnes, Erin M. Carter, +8 authors J. Marini
- Biology, MedicineThe New England journal of medicine
- 17 March 2010
The proband's collagen had normal collagen folding and normal prolyl 3-hydroxylation, suggesting that CyPB is not the exclusive peptidyl-prolyl cis-trans isomerase that catalyzes the rate-limiting step in collagen folding, as is currently thought.
Controlled Trial of Pamidronate in Children With Types III and IV Osteogenesis Imperfecta Confirms Vertebral Gains but Not Short‐Term Functional Improvement
- A. Letocha, H. Cintas, +6 authors J. Marini
- MedicineJournal of bone and mineral research : the…
- 1 June 2005
A randomized controlled trial of q3m intravenous pamidronate in children with types III and IV OI yielded positive vertebral changes in DXA and geometry after 1 year of treatment, but no further significant improvement during extended treatment.
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
It is shown that the long-sought cause of the recessive form of OI, first postulated in the Sillence classification, lies in defects in the genes encoding cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1 (P3H1/LEPRE1).