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
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
Aileen M. Barnes,Geraldine Duncan,MaryAnn Weis,William Paton,Wayne A. Cabral,Edward L. Mertz,Elena Makareeva,Michael J. Gambello,Felicitas Lacbawan,Sergey Leikin,Andrzej Fertala,David R. Eyre,Sherri J. Bale,Joan C. Marini +13 more
TL;DR: The results imply that FKBP10 mutations affect collagen indirectly, by ablating FK BP65 support for collagen telopeptide hydroxylation by lysyl hydroxymase 2, thus decreasing collagen cross‐links in tendon and bone matrix.
Journal ArticleDOI
Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI.
TL;DR: It is argued that the outcome in Brtl IV may be significantly affected by cellular stress and malfunction caused by the retention and degradation of newly synthesized mutant collagen.
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4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion.
Roberta Besio,Giusy Iula,Nadia Garibaldi,Lina Cipolla,Simone Sabbioneda,Marco Biggiogera,Joan C. Marini,Antonio Rossi,Antonella Forlino +8 more
TL;DR: It is demonstrated that the cellular response to ER stress can be a relevant target to ameliorate OI cell homeostasis.
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The growth hormone and somatomedin axis in short children with osteogenesis imperfecta.
Joan C. Marini,S Bordenick,G Heavner,Susan R. Rose,Raymond L. Hintz,R.G. Rosenfeld,George P. Chrousos +6 more
TL;DR: It is concluded that abnormalities of the GH-somatomedin axis exist in some children with OI and Administration of GH or clonidine may augment growth rates in OI children; however, the effect of these agents on final stature is unknown.
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Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation
Stéphane Blouin,Nadja Fratzl-Zelman,Francis H. Glorieux,Paul Roschger,Klaus Klaushofer,Joan C. Marini,Frank Rauch +6 more
TL;DR: The elevated osteocyte lacunar density in connection with lack of regular bone lamellation points to an exuberant primary bone formation and an alteration of the bone remodeling process in OI type V, similar to other forms of OI.