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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Journal ArticleDOI
A bent helix in kinetoplast DNA.
Journal ArticleDOI
Prolyl 3-Hydroxylase 1 and CRTAP are Mutually Stabilizing in the Endoplasmic Reticulum Collagen Prolyl 3-Hydroxylation Complex
TL;DR: Mutual stabilization of P3H1 and CRTAP in the ER collagen modification complex is an underlying mechanism for the overlapping phenotype of types VII and VIII OI.
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A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.
Charles R. Farber,Adi Reich,Aileen M. Barnes,Patricia Becerra,Frank Rauch,Frank Rauch,Wayne A. Cabral,Alison S Bae,Aaron R. Quinlan,Francis H. Glorieux,Francis H. Glorieux,Thomas L. Clemens,Thomas L. Clemens,Joan C. Marini +13 more
TL;DR: Osteogenesis imperfecta types V and VI are caused by a unique dominant mutation in IFITM5, encoding BRIL, a transmembrane ifitm‐like protein most strongly expressed in the skeletal system, and recessive null mutations in SERPINF1, encoding pigment epithelium‐derived factor (PEDF).
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Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy†‡§
Roberta Gioia,Cristina Panaroni,Roberta Besio,Giovanni Palladini,Giampaolo Merlini,Vincenzo Giansanti,Ivana A. Scovassi,Simona Villani,Isabella Villa,Anna Villa,Paolo Vezzoni,Ruggero Tenni,Antonio Rossi,Joan C. Marini,Antonella Forlino +14 more
TL;DR: This is the first report of impaired MSC differentiation to osteoblasts in OI, and it identifies a new potential target for the pharmacological treatment of the disorder.
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Adult Brtl/+ mouse model of osteogenesis imperfecta demonstrates anabolic response to sclerostin antibody treatment with increased bone mass and strength
Benjamin P. Sinder,Logan White,Joseph D. Salemi,Michael S. Ominsky,Michelle S. Caird,Joan C. Marini,Kenneth M. Kozloff +6 more
TL;DR: Treatment of adult OI mice respond favorably to sclerostin antibody therapy despite retention of the OI-causing defect, and a strong anabolic response to Scl-Ab led to improved trabecular and cortical bone mass in the femur.