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.
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Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
Linda C. Walker,A.S. Teebi,Joan C. Marini,A De Paepe,Fransiska Malfait,Phimon Atsawasuwan,Mitsuo Yamauchi,Heather N. Yeowell +7 more
TL;DR: 3 patients with mixed phenotypes of EDS, who have significantly decreased mRNAs for LH2, but normal levels of LH1 and LH3 m RNAs, in their skin fibroblasts are described, suggesting that the deficiency of LH2 in these fibro Blasts may be caused by changes in other factors required for the expression of LH 2.
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Technetium-99m MDP demonstration of heterotopic ossification in fibrodysplasia ossificans progressiva.
TL;DR: A case in which a Tc-99m MDP bone scan showed increased uptake at sites well before ossification could be documented radiographically is described, suggesting that bone scans would likely be useful to monitor the extent of involvement with FOP and to detect areas of new activity.
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Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta.
Nadia Garibaldi,Barbara M. Contento,Gabriele Babini,Jacopo Morini,Stella Siciliani,Marco Biggiogera,Mario Raspanti,Joan C. Marini,Antonio Rossi,Antonella Forlino,Roberta Besio +10 more
TL;DR: In this paper, the effect of the chemical chaperone 4-phenylbutyrate (4-PBA) on cell homeostasis, collagen trafficking, matrix production and mineralization was investigated in primary osteoblasts from two murine models of moderate osteogenesis imperfecta.
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Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix
Masahiko Terajima,Yuki Taga,Wayne A. Cabral,Masako Nagasawa,Noriko Sumida,Shunji Hattori,Joan C. Marini,Mitsuo Yamauchi +7 more
TL;DR: A critical role of CypB in dentin matrix formation is indicated, suggesting a possible association between recessive osteogenesis imperfecta and dentin defects that have not been clinically detected.
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Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
Steven Mumm,Steven Mumm,Gary S. Gottesman,Deborah Wenkert,Philippe M. Campeau,Angela Nenninger,Margaret Huskey,Vinieth N. Bijanki,Deborah J. Veis,Deborah J. Veis,Aileen M. Barnes,Joan C. Marini,Marina Stolina,Fan Zhang,William H. McAlister,Michael P. Whyte,Michael P. Whyte +16 more
TL;DR: Exome sequencing revealed two missense variants in PLOD2 which encodes procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (lysyl hydroxylase 2, LH2), and truncating defects (nonsense, frameshift, splice site mutations) are also found throughoutPLOD2.