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
Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength.
Kenneth M. Kozloff,Angela Carden,Clemens Bergwitz,Antonella Forlino,Thomas E Uveges,Michael D. Morris,Joan C. Marini,Steven A. Goldstein +7 more
TL;DR: 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.
Journal ArticleDOI
Physical characterization of a kinetoplast DNA fragment with unusual properties.
Joan C. Marini,Philip N. Effron,Thomas C. Goodman,Charles K. Singleton,Robert D. Wells,Roger M. Wartell,Paul T. Englund +6 more
TL;DR: A 414-base pair fragment from a Leishmania tarentolae kinetoplast DNA minicircle has unusual physical properties and is accounted for by proposing that the fragment is a systematically bent helix.
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Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
TL;DR: Identification of these multiple causative defects has provided crucial information for accurate genetic counseling, inspired a recently proposed functional grouping of osteogenesis imperfecta types by shared mechanism to simplify current nosology, and has prodded investigations into common pathways in osteogenesis perfecta.
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COL1 C-propeptide Cleavage Site Mutations Cause High Bone Mass Osteogenesis Imperfecta
Katarina Lindahl,Aileen M. Barnes,Nadja Fratzl-Zelman,Michael P. Whyte,Theresa E. Hefferan,Elena Makareeva,Marina Brusel,Michael J. Yaszemski,Carl-Johan Rubin,Andreas Kindmark,Paul Roschger,Klaus Klaushofer,William H. McAlister,Steven Mumm,Sergey Leikin,Efrat Kessler,Adele L. Boskey,Östen Ljunggren,Joan C. Marini +18 more
TL;DR: Two children with substitutions in the type I procollagen C‐propeptide cleavage site are identified, which disrupt a unique processing step in collagen maturation and define a novel phenotype within OI.
Journal ArticleDOI
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
TL;DR: 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).