JoanCarolMariniMD

PubMed

• 3 citations
  Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.
  Kaitlin L Ballenger, Nicol Tugarinov, Sara Talvacchio, Marianne Knue, An N Dang Do, Mark A. Ahlman, James C. Reynolds, Jack A. Yanovski, Joan C. Marini> ;The Journal of Clinical Endocrinology and Metabolism. 2021 Sep 14
• Stress Shielding in the Setting of Osteogenesis Imperfecta and the Effect of Downsizing an Intramedullary Rod: A Case Report.
  Jeanne M. Franzone, Brandi M. Sargent, An N Dang Do, Marianne Knue, Joan C. Marini, Richard W. Kruse> ;JBJS Case Connector. 2021 Jul 23
• 49 citations
  Osteogenesis Imperfecta: Mechanisms and signaling pathways connecting classical and rare OI types.
  Milena Jovanovic, Gali Guterman-Ram, Joan C. Marini> ;Endocrine Reviews. 2021 May 19
• 17 citations
  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 Forl...> ;Matrix Biology. 2021 Mar 30
• 1 citations
  Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.
  Smita Jha, Aleksandra Ivovic, Heeseog Kang, Françoise Meylan, Eric P. Hanson, Casey A. Rimland, Eileen Lange, James D. Katz, Alison A. McBride, Andrew C. Warner, Elija...> ;The Journal of Investigative Dermatology. 2021 Mar 1
• 20 citations
  Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
  Heeseog Kang, Smita Jha, Aleksandra Ivovic, Nadja Fratzl-Zelman, Zuoming Deng, Apratim Mitra, Wayne A. Cabral, Eric P. Hanson, Eileen Lange, Edward W. Cowen, James D. ...> ;The Journal of Experimental Medicine. 2020 May 4
• 10 citations
  Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.
  Wayne A. Cabral, Nadja Fratzl-Zelman, MaryAnn Weis, Joseph E. Perosky, Adrienne Alimasa, Rachel Harris, Heeseog Kang, Elena Makareeva, Aileen M. Barnes, Paul Roschger,...> ;Matrix Biology. 2020 Feb 26
• 13 citations
  Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
  Steven Mumm, Gary S. Gottesman, Deborah Wenkert, Philippe M. Campeau, Angela Nenninger, Margaret Huskey, Vinieth N. Bijanki, Deborah J. Veis, Aileen M. Barnes, Joan C....> ;Bone. 2020 Jan 1
• 8 citations
  Sclerostin Antibody-Induced Changes in Bone Mass Are Site Specific in Developing Crania.
  Amanda L Scheiber, David K. Barton, Basma Khoury, Joan C. Marini, Donald L. Swiderski, Michelle S. Caird, Kenneth M. Kozloff> ;Journal of Bone and Mineral Research. 2019 Dec 1
• 10 citations
  Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series
  Cameron N Fick, Nadja Fratzl-Zelman, Paul Roschger, Klaus Klaushofer, Smita Jha, Joan C. Marini, Timothy Bhattacharyya> ;The American Journal of Surgical Pathology. 2019 Nov 1
• 16 citations
  COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.
  Aileen M. Barnes, Aarthi Ashok, Elena Makareeva, Marina Brusel, Wayne A. Cabral, MaryAnn Weis, Catherine Moali, Emmanuel Bettler, David R. Eyre, John Cassella, Sergey ...> ;Biochimica Et Biophysica Acta. Molecular Basis of Disease. 2019 Sep 1
• 27 citations
  Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
  Roberta Besio, Chi-Wing Chow, Francesca Tonelli, Joan C. Marini, Antonella Forlino> ;The FEBS Journal. 2019 Aug 1
• 7 citations
  Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study.
  Smita Jha, Edward W. Cowen, Tanya J. Lehky, Katharine E. Alter, Lauren Flynn, James C. Reynolds, Eileen Lange, James D. Katz, Joan C. Marini, Richard M. Siegel, Timoth...> ;JBMR Plus. 2019 Jul 26
• 15 citations
  Cyclophilin B control of lysine post-translational modifications of skin type I collagen.
  Masahiko Terajima, Yuki Taga, Wayne A. Cabral, Ying Liu, Masako Nagasawa, Noriko Sumida, Yukako Kayashima, Prashant Chandrasekaran, Lin Han, Nobuyo Maeda, Irina Perdiv...> ;Plos Genetics. 2019 Jun 7
• 12 citations
  Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction
  Nadja Fratzl-Zelman, Paul Roschger, Heeseog Kang, Smita Jha, Andreas Roschger, Stéphane Blouin, Zuoming Deng, Wayne A. Cabral, Aleksandra Ivovic, James D. Katz, Richar...> ;Journal of Bone and Mineral Research. 2019 May 1
• 18 citations
  Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen.
  Lauren A Barber, Craig B. Abbott, Vihang Nakhate, An N Dang Do, Angela R. Blissett, Joan C. Marini> ;Genetics in Medicine. 2019 May 1
• 6 citations
  Cortical bone properties in the Brtl/+ mouse model of Osteogenesis imperfecta as evidenced by acoustic transmission microscopy.
  Stéphane Blouin, Nadja Fratzl-Zelman, Andreas Roschger, Wayne A. Cabral, Klaus Klaushofer, Joan C. Marini, Peter Fratzl, Paul Roschger> ;Journal of the Mechanical Behavior of Biomedical Materials. 2019 Feb 1
• 21 citations
  Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations
  Smita Jha, Nadja Fratzl-Zelman, Paul Roschger, Georgios Z. Papadakis, Edward W. Cowen, Heeseog Kang, Tanya J. Lehky, Katharine E. Alter, Zuoming Deng, Aleksandra Ivovi...> ;Journal of Bone and Mineral Research. 2019 Jan 1
• 10 citations
  Low Dose of Bisphosphonate Enhances Sclerostin Antibody-Induced Trabecular Bone Mass Gains in Brtl/+ Osteogenesis Imperfecta Mouse Model.
  Diana Olvera, Joan C. Marini, Michelle S. Caird, Kenneth M. Kozloff, Rachel Stolzenfeld> ;Journal of Bone and Mineral Research. 2018 Jul 1
• 53 citations
  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> ;Biochimica Et Biophysica Acta. Molecular Basis of Disease. 2018 Feb 10
• 47 citations
  Somatic activating mutations in MAP2K1 cause melorheostosis
  Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan, Eric P. Hanson, Eileen Lange, James D. Katz, Paul Ros...> ;Nature Communications. 2018 Apr 11
• 46 citations
  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> ;Journal of Bone and Mineral Research. 2017 Jun 26
• 11 citations
  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> ;Journal of Proteome Research. 2017 Jul 25
• 29 citations
  P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
  Yaqun Zou, Sandra Donkervoort, Antti M. Salo, A. Reghan Foley, Aileen M. Barnes, Ying Hu, Elena Makareeva, M. Leach, Payam Mohassel, Jahannaz Dastgir, Matthew A. Deard...> ;Human Molecular Genetics. 2017 Jun 15
• 22 citations
  Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
  Emma A Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A. Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan L. Stewart, Ni...> ;The Journal of Clinical Endocrinology and Metabolism. 2017 Jun 1
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