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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
TLDR
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. Expand
New perspectives on osteogenesis imperfecta
TLDR
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. Expand
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
TLDR
Genetic alterations of the catalytic subunit of PKA were found to be associated with human disease and Germline duplications of this gene resulted in bilateral adrenal hyperplasias, whereas somatic PRKACA mutations resulted in unilateral cortisol-producing adrenal adenomas. Expand
Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates*
TLDR
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. Expand
Current and emerging treatments for the management of osteogenesis imperfecta
TLDR
Suggestions and guidelines for a therapeutic approach are indicated and updated with the most recent findings in OI diagnosis and treatment. Expand
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations
TLDR
Recombinant human prolidase was produced in prokaryotic and eukaryotic hosts with biochemical properties similar to the endogenous enzyme and represents a valid tool both to better understand the structure and biological function of the enzyme and to develop an enzyme replacement therapy for the prolid enzyme deficiency (PD). Expand
Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength
TLDR
The Brtl mouse model for type IV osteogenesis imperfecta improves its whole bone strength and stiffness between 2 and 6 months of age without a corresponding improvement in geometric resistance to bending, suggesting an improvement in matrix material properties. Expand
Use of the Cre/lox Recombination System to Develop a Non-lethal Knock-in Murine Model for Osteogenesis Imperfecta with an α1(I) G349C Substitution
TLDR
These mice are an excellent model for delineation of the modifying factors postulated to affect human OI phenotypes and generate knock-in mice carrying an “intronic” inclusion by mating chimeras with wild-type females. Expand
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
TLDR
A Dtdst knock-in mouse with a partial loss of function of the sulfate transporter was generated and homozygous mutant mice were characterized by growth retardation, skeletal dysplasia and joint contractures, thereby recapitulating essential aspects of the DTD phenotype in man. Expand
Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression.
TLDR
It is reported that encephalitic flaviviruses, including tick-borne encephalitis virus and West Nile virus, antagonize IFN-I signaling by inhibiting IFNAR1 surface expression, a cellular dipeptidase implicated in primary immune deficiencies in humans. Expand
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