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D-Index & Metrics

Biology and Biochemistry

D-Index
67
Citations
14790
World Ranking
8274
National Ranking
3741

Research.com Recognitions

  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

Joan C. Marini is affiliated with the National Institutes of Health in the United States and has a research focus primarily situated within biochemistry, genetics, and molecular biology, as well as medicine. Their work spans a total of 48 publications in the former field and 35 in the latter.

Their research covers key areas including genetics, rheumatology, molecular biology, cancer research, and immunology. More specifically, their contributions pivot around connective tissue disorders research, bone and dental protein studies, protease and inhibitor mechanisms, dermatological and skeletal disorders, macrophage migration inhibitory factor, bone fractures and treatments, and vitamin K research studies.

Marini has published extensively in several notable scientific venues. The most frequent publication outlets include Bone Reports, with 10 publications, Matrix Biology with 4, Bone with 2, JBMR Plus with 2, and UNC Libraries with 2.

Among their recent published papers are:

  • "Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types," 2021, Endocrine Reviews
  • "Dissecting the phenotypic variability of osteogenesis imperfecta," 2022, Disease Models & Mechanisms
  • "Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway," 2020, The Journal of Experimental Medicine
  • "Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta," 2021, Matrix Biology
  • "Update on the Genetics of Osteogenesis Imperfecta," 2024, Calcified Tissue International

Frequent co-authors collaborating with Marini include Nadja Fratzl-Zelman, Gali Guterman-Ram, Milena Jovanovic, Aileen M. Barnes, and Ryan Dale, reflecting ongoing partnerships in the areas of skeletal and connective tissue research.

Their research contributions encompass investigations into molecular pathways and genetic underpinnings of bone diseases, with particular attention to osteogenesis imperfecta and related connective tissue disorders. This body of work is positioned within broader biomedical themes addressing skeletal disorder mechanisms and therapeutic approaches.

Joan C. Marini is also recognized as a Member of the Association of American Physicians.

Best Publications

  • Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

    Joan C. Marini;Antonella Forlino;Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes

  • Bent helical structure in kinetoplast DNA.

    Joan C. Marini;Stephen D. Levene;Donald M. Crothers;Paul T. Englund

  • New perspectives on osteogenesis imperfecta.

    Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes;Joan C. Marini

  • Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

    Wayne A Cabral;Weizhong Chang;Aileen M Barnes;MaryAnn Weis

  • Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta

    Aileen M. Barnes;Weizhong Chang;Roy Morello;Wayne A. Cabral

  • Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates.

    Shawn M. Sweeney;Joseph P. Orgel;Andrzej Fertala;Jon D. McAuliffe

  • The Molecular Biology of Trypanosomes

    Paul T. Englund;Stephen L. Hajduk;Joan C Marini

  • Mutations in WNT1 Cause Different Forms of Bone Fragility

    Katharina Keupp;Filippo Beleggia;Hülya Kayserili;Aileen M. Barnes

  • Evaluation of oral problems in an osteogenesis imperfecta population.

    A.C. O’Connell;J.C. Marini

  • Controlled Trial of Pamidronate in Children With Types III and IV Osteogenesis Imperfecta Confirms Vertebral Gains but Not Short‐Term Functional Improvement

    Anne D Letocha;Holly L Cintas;James F Troendle;James C Reynolds

  • New Genes in Bone Development: What's New in Osteogenesis Imperfecta

    Joan C. Marini;Angela R. Blissett

  • Use of the Cre/lox Recombination System to Develop a Non-lethal Knock-in Murine Model for Osteogenesis Imperfecta with an α1(I) G349C Substitution: VARIABILITY IN PHENOTYPE IN BrtlIV MICE

    Antonella Forlino;Forbes D. Porter;Eric J. Lee;Heiner Westphal

  • Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

    Aileen M. Barnes;Erin M. Carter;Wayne A. Cabral;MaryAnn Weis

  • Decatenation of kinetoplast DNA by topoisomerases.

    J C Marini;K G Miller;P T Englund

  • Do bisphosphonates make children's bones better or brittle?

    Joan C. Marini

  • Physical characterization of a kinetoplast DNA fragment with unusual properties.

    Joan C. Marini;Philip N. Effron;Thomas C. Goodman;Charles K. Singleton

  • Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.

    Joan C. Marini;Adi Reich;Simone M. Smith

  • Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

    Joan C. Marini;Wayne A. Cabral;Aileen M. Barnes

  • Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing *

    Wayne A. Cabral;Elena Makareeva;Alain Colige;Anne D. Letocha

  • Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

    Joan C. Marini;Wayne A. Cabral;Aileen M. Barnes;Weizhong Chang

Frequent Co-Authors

Sergey Leikin
Sergey Leikin National Institutes of Health
Klaus Klaushofer
Klaus Klaushofer University of Vienna
David R. Eyre
David R. Eyre University of Washington
MaryAnn Weis
MaryAnn Weis University of Washington
Francis H. Glorieux
Francis H. Glorieux McGill University
David Chitayat
David Chitayat University of Toronto
Paul T. Englund
Paul T. Englund Johns Hopkins University
Richard M. Siegel
Richard M. Siegel National Institutes of Health
Mitsuo Yamauchi
Mitsuo Yamauchi University of North Carolina at Chapel Hill
Forbes D. Porter
Forbes D. Porter National Institutes of Health

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