Fibrillin-rich microfibrils - structural and instructive determinants of mammalian development and physiologyFrancesco Ramirez
Child Health Institute of New Jersey, Robert W Johnson Medical School, New Brunswick, New Jersey, USA
Connect Tissue Res 49:1-6. 2008
..This review summarizes the evidence supporting our current understanding of the structural and instructive roles that fibrillin-rich microfibrils play during embryonic development and in human diseases...
Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic eventsFrancesco Ramirez
Child Health Institute of New Jersey, Robert W Johnson Medical School, New Brunswick, New York 08901, USA
J Cell Physiol 213:326-30. 2007
..This review summarizes our current understanding of the role of fibrillin-rich microfibrils in development and disease, as well as exciting new applications in the clinical management of MFS and related connective tissue disorders...
- Marfan syndrome: from molecular pathogenesis to clinical treatment
Francesco Ramirez
Child Health Institute of New Jersey, Robert W Johnson Medical School, 89 French Street, New Brunswick, NJ 08901, USA corrected
Curr Opin Genet Dev 17:252-8. 2007
..More generally, these studies have established that Marfan syndrome is part of a group of developmental disorders with broad and complex effects on morphogenesis, homeostasis and organ function...
- Transcriptional regulation of the human alpha2(I) collagen gene (COL1A2), an informative model system to study fibrotic diseases
Francesco Ramirez
Child Health Institute of New Jersey, Robert W Johnson Medical School, New Brunswick, NJ 08901, USA
Matrix Biol 25:365-72. 2006
..These transcriptional studies have also an additional value in translational research, in that they are providing the conceptual means to develop new animal models of and therapeutic strategies for fibrotic diseases...
Fibrillins 1 and 2 perform partially overlapping functions during aortic developmentLuca Carta
Laboratory of Genetics and Organogenesis, Hospital for Special Surgery, The Weill Medical College of Cornell University, New York, New York 10021, USA
J Biol Chem 281:8016-23. 2006
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- Esophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zone
Hideaki Sumiyoshi
Research Division of the Hospital for Special Surgery at the Weill College of Medicine of Cornell University, New York, NY 10019, USA
J Cell Biol 166:591-600. 2004
..Therefore, these findings identify collagen XIX as the first structural determinant of sphincteric muscle function, and as the first extrinsic factor of skeletal myogenesis in the murine esophagus...
- Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome
Wanfen Xiong
Department of Surgery, University of Nebraska Medical Center, Omaha, NE 68198, USA
J Vasc Surg 47:166-72; discussion 172. 2008
..Doxycycline is a nonspecific MMP inhibitor. The objective of the study was to determine whether docycycline can attenuate matrix degradation and prolong the survival of mice with MFS...
- Magnetic resonance microscopy quantifies the disease progression in Marfan syndrome mice
Vitalii V Itskovich
Imaging Science Laboratories, Mount Sinai School of Medicine, New York, New York 10029-6574, USA
J Magn Reson Imaging 17:435-9. 2003
..05). CONCLUSION: MRM detected the differences in aortic size between WT and mutant mice over time, demonstrating a potential for noninvasive technique for the assessment of potential therapies in MFS mice...
- Cell signaling events: a view from the matrix
Francesco Ramirez
Laboratory of Genetics and Organogenesis Hospital for Special Surgery, Weill Medical College of Cornell University, 535 East 70th Street, New York, NY 10021, USA
Matrix Biol 22:101-7. 2003
..These observations open the way to a novel understanding in these poorly understood and critically important areas of cell and developmental biology...
- Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
Ronald D Cohn
McKusick Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA
Nat Med 13:204-10. 2007
..Moreover, we show TGF-beta-induced failure of muscle regeneration and a similar therapeutic response in a dystrophin-deficient mouse model of Duchenne muscular dystrophy...
- Symposium on the musculoskeletal aspects of Marfan syndrome: meeting report and state of the science
Kevin B Jones
Department of Orthopaedics and Rehabilitation, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, Iowa 52242, USA
J Orthop Res 25:413-22. 2007
..Areas covered include clinical detection, diagnosis, growth, spine deformity, molecular mechanisms, dural ectasia, protrusio acetabuli, and pain in Marfan syndrome...
- Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone
Manuel Koch
Institute for Biochemistry II, University of Cologne, Joseph Stelzmann Strasse 52, Cologne 50931, Germany
J Biol Chem 278:43236-44. 2003
..Based on these data, we propose that collagen XXIV is an ancient molecule that may contribute to the regulation of type I collagen fibrillogenesis at specific anatomical locations during fetal development...
- Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
Jennifer P Habashi
Howard Hughes Medical Institute and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 312:117-21. 2006
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- Development of a functional skin matrix requires deposition of collagen V heterotrimers
Hélène Chanut-Delalande
Institut de Biologie et Chimie des Proteines, UMR CNRS 5086, IFR128 Biosciences Lyon Gerland, France
Mol Cell Biol 24:6049-57. 2004
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- Recent progress towards a molecular understanding of Marfan syndrome
Harry C Dietz
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Med Genet C Semin Med Genet 139:4-9. 2005
..Importantly, new biological targets have emerged that may yield exciting new opportunities for the development of productive treatment strategies in MFS...
- Therapy insight: aortic aneurysm and dissection in Marfan's syndrome
Francesco Ramirez
Laboratory of Genetics and Organogenesis, Hospital for Special Surgery at the Weill Medical College of Cornell University, 535 East 70th Street, New York, NY 10021, USA
Nat Clin Pract Cardiovasc Med 1:31-6. 2004
..As a result, exciting new hypotheses have emerged regarding the pathogenesis of MFS, as well as opportunities to explore translational applications of this information that may be relevant to various manifestations of the disease...
- Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology
Francesco Ramirez
Laboratory of Genetics and Organogenesis, Hospital for Special Surgery, and Department of Physiology and Biophysics, Weill Medical College of Cornell University, New York, New York 10021, USA
Physiol Genomics 19:151-4. 2004
..These observations pave the way to novel therapeutic approaches aimed at counteracting the deleterious consequences of perturbations of connective tissue homeostasis...
- Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
Enid R Neptune
Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 33:407-11. 2003
..These data indicate that matrix sequestration of cytokines is crucial to their regulated activation and signaling and that perturbation of this function can contribute to the pathogenesis of disease...
