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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Bone: Use of bisphosphonates in children-proceed with caution.
TL;DR: A clinical review of studies on bisphosphonate therapy for pediatric osteoporosis has revealed that they increase BMD, but whether they also improve fracture rates or functions of daily life is unclear.
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Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
Adi Reich,Alison S. Bae,Aileen M Barnes,Wayne A. Cabral,Aleksander Hinek,Jennifer Stimec,Suvimol Hill,David Chitayat,Joan C. Marini +8 more
TL;DR: It is demonstrated that type V OI mineralization has a gain-of-function mechanism at the osteoblast level, which likely underlies the overactive tissue mineralization seen in patients.
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Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
TL;DR: The most recent advances in the understanding of processes involved in abnormal bone mineralization, collagen processing and osteoblast function are described, as illustrated by the characterization of new causative genes for OI and OI‐related fragility syndromes.
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Effect of anti-sclerostin therapy and osteogenesis imperfecta on tissue-level properties in growing and adult mice while controlling for tissue age.
Benjamin P. Sinder,William R. Lloyd,Joseph D. Salemi,Joan C. Marini,Michelle S. Caird,Michael D. Morris,Kenneth M. Kozloff +6 more
TL;DR: Investigation of the role of Scl-Ab on bone quality by determining bone material composition and tissue-level mechanical properties in normal wild type (WT) tissue, as well as mice with a typical OI Gly➔Cys mutation (Brtl/+) in type I collagen suggests that SCl-Ab alters the matrix chemistry of newly formed bone while not affecting the elastic modulus.
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A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
Masaki Takagi,Tomohiro Ishii,Aileen M. Barnes,MaryAnn Weis,Naoko Amano,Mamoru Tanaka,Ryuji Fukuzawa,Gen Nishimura,David R. Eyre,Joan C. Marini,Tomonobu Hasegawa +10 more
TL;DR: This study shows, for the first time, that the KDEL ER- retrieval sequence is essential for P3H1 functionality and that a defect in KDEL is sufficient for disease onset.