tight skin

Summary

Gene Symbol: tight skin
Description: fibrillin 1
Alias: AI536462, B430209H23, Fib-1, Tsk, fibrillin-1, tight skin
Species: mouse

Top Publications

  1. ncbi Marfan-like skeletal phenotype in the tight skin (Tsk) mouse
    Tatjana Barisic-Dujmovic
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT 06030, USA
    Calcif Tissue Int 81:305-15. 2007
  2. doi Fibrillin-1 microfibril deposition is dependent on fibronectin assembly
    Rachel Kinsey
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Science, Michael Smith Building, Oxford Road, University of Manchester, Manchester M139PT, UK
    J Cell Sci 121:2696-704. 2008
  3. ncbi Enhanced expression of fibrillin-1, a constituent of the myocardial extracellular matrix in fibrosis
    Fatiha Bouzeghrane
    Institut de Recherches Cliniques de Montreal, Montreal, Quebec, Canada H2W 1R7
    Am J Physiol Heart Circ Physiol 289:H982-91. 2005
  4. ncbi Relaxin regulates fibrillin 2, but not fibrillin 1, mRNA and protein expression by human dermal fibroblasts and murine fetal skin
    Chrishan S Samuel
    Molecular Medicine Research Institute, 525 Del Rey Avenue, Suite B, Sunnyvale, CA 94085, USA
    Arch Biochem Biophys 411:47-55. 2003
  5. pmc Microenvironmental regulation by fibrillin-1
    Gerhard Sengle
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon, United States of America
    PLoS Genet 8:e1002425. 2012
  6. pmc ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly
    Masahiro Saito
    Department of Biological Science and Technology, Faculty of Industrial Science, Tokyo University of Science, Noda, Chiba 278 8510, Japan
    J Biol Chem 286:38602-13. 2011
  7. ncbi Changes in fibrillin-1 in the endometrium during the early stages of pregnancy in mice
    Camila L Stumm
    Department of Cell and Developmental Biology, Laboratory of Biology of Reproduction and Extracellular Matrix, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil
    Cells Tissues Organs 185:258-68. 2007
  8. ncbi Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice
    R Sgonc
    University of Innsbruck, Austria
    Arthritis Rheum 42:581-4. 1999
  9. ncbi Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice
    S Saito
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Immunol 36:169-76. 1999
  10. pmc Induction of skin fibrosis in mice expressing a mutated fibrillin-1 gene
    S Saito
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Med 6:825-36. 2000

Research Grants

Scientific Experts

Detail Information

Publications125 found, 100 shown here

  1. ncbi Marfan-like skeletal phenotype in the tight skin (Tsk) mouse
    Tatjana Barisic-Dujmovic
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT 06030, USA
    Calcif Tissue Int 81:305-15. 2007
    ..dominant mutation located on mouse chromosome 2 and is associated with an intragenic duplication of the fibrillin 1 (Fbn1) gene...
  2. doi Fibrillin-1 microfibril deposition is dependent on fibronectin assembly
    Rachel Kinsey
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Science, Michael Smith Building, Oxford Road, University of Manchester, Manchester M139PT, UK
    J Cell Sci 121:2696-704. 2008
    ..Thus, pericellular microfibril assembly is regulated by fibronectin fibrillogenesis...
  3. ncbi Enhanced expression of fibrillin-1, a constituent of the myocardial extracellular matrix in fibrosis
    Fatiha Bouzeghrane
    Institut de Recherches Cliniques de Montreal, Montreal, Quebec, Canada H2W 1R7
    Am J Physiol Heart Circ Physiol 289:H982-91. 2005
    ..In vitro and in vivo evidence suggests that ANG II can directly induce fibrillin-1 expression in cardiac fibroblasts. This protein can thus contribute to reactive and reparative processes...
  4. ncbi Relaxin regulates fibrillin 2, but not fibrillin 1, mRNA and protein expression by human dermal fibroblasts and murine fetal skin
    Chrishan S Samuel
    Molecular Medicine Research Institute, 525 Del Rey Avenue, Suite B, Sunnyvale, CA 94085, USA
    Arch Biochem Biophys 411:47-55. 2003
    ..We have found that relaxin specifically inhibits a microfibril component, fibrillin 2 (FBN2), without affecting fibrillin 1 (FBN1)...
  5. pmc Microenvironmental regulation by fibrillin-1
    Gerhard Sengle
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon, United States of America
    PLoS Genet 8:e1002425. 2012
    ..We conclude that local tissue-specific microenvironments, affected in WMS, are maintained by a fibrillin-1 microfibril scaffold, modulated by ADAMTSLIKE proteins in concert with ADAMTS enzymes...
  6. pmc ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly
    Masahiro Saito
    Department of Biological Science and Technology, Faculty of Industrial Science, Tokyo University of Science, Noda, Chiba 278 8510, Japan
    J Biol Chem 286:38602-13. 2011
    ..These findings also suggest a new therapeutic strategy for the treatment of MFS through ADAMTSL6β-mediated fibrillin-1 microfibril assembly...
  7. ncbi Changes in fibrillin-1 in the endometrium during the early stages of pregnancy in mice
    Camila L Stumm
    Department of Cell and Developmental Biology, Laboratory of Biology of Reproduction and Extracellular Matrix, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil
    Cells Tissues Organs 185:258-68. 2007
    ..Changes in the fibrillin-1 expression during the peri-implantation period suggest that fibrillin-1 plays a role in preparing the endometrium for embryo implantation...
  8. ncbi Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice
    R Sgonc
    University of Innsbruck, Austria
    Arthritis Rheum 42:581-4. 1999
  9. ncbi Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice
    S Saito
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Immunol 36:169-76. 1999
    ..In addition, several microsatellite alleles near Fbn-1 gene were found associated with diffuse scleroderma. In TSK/+ mice, which develop a scleroderma-like syndrome, the Fbn-1 gene exhibits an inframe duplication of exons 17-40...
  10. pmc Induction of skin fibrosis in mice expressing a mutated fibrillin-1 gene
    S Saito
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Med 6:825-36. 2000
    b>Tight skin mice (TSK) bear a mutated Fibrillin-1 (Fbn-1) gene. Genetic studies show that the TSK mutation is closely associated with the Fbn-1 locus (0-0.7 cM)...
  11. ncbi Endothelial dysfunction in murine model of systemic sclerosis: tight-skin mice 1
    I Marie
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, 30 Quai Ernest Ansermet, 1211 Geneva 4, Switzerland
    J Invest Dermatol 119:1379-87. 2002
    ....
  12. ncbi Monocyte chemoattractant protein 3 as a mediator of fibrosis: Overexpression in systemic sclerosis and the type 1 tight-skin mouse
    Voon H Ong
    Royal Free Hospital and University College Medical School, London, UK
    Arthritis Rheum 48:1979-91. 2003
    ....
  13. ncbi Mutant fibrillin 1 from tight skin mice increases extracellular matrix incorporation of microfibril-associated glycoprotein 2 and type I collagen
    Raphael Lemaire
    Boston University School of Medicine, The Arthritis Center, Boston, Massachusetts 02118, USA
    Arthritis Rheum 50:915-26. 2004
    ..We also studied whether deposition of microfibril-associated glycoprotein 2 (MAGP-2), a protein that is associated with fibrillin 1, was altered in the skin of patients with SSc.
  14. ncbi Intercellular adhesion molecule-1 deficiency attenuates the development of skin fibrosis in tight-skin mice
    Yukiyo Matsushita
    Department of Dermatology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
    J Immunol 179:698-707. 2007
    The tight-skin (TSK/+) mouse, a genetic model for systemic sclerosis, develops cutaneous fibrosis. Although a fibrillin 1 gene mutation and immunological abnormalities have been demonstrated, the roles of adhesion molecules have not been ..
  15. pmc TNF is a key mediator of septic encephalopathy acting through its receptor, TNF receptor-1
    Jessy J Alexander
    Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC5100, Chicago, IL 60637, USA
    Neurochem Int 52:447-56. 2008
    ....
  16. pmc Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton
    M C Green
    Am J Pathol 82:493-512. 1976
    A new dominant mutation, tight-skin (Tsk), is located on Chromosome 2, two recombination units distal to pallid (pa)...
  17. ncbi A 16-month study of the development of genetic emphysema in tight-skin mice
    P A Martorana
    Department of Pharmacology, Cassella AG, Frankfurt Main, West Germany
    Am Rev Respir Dis 139:226-32. 1989
    The tight-skin (tsk) mouse has been recently proposed as a model of genetically determined emphysema...
  18. ncbi Autoantibodies in scleroderma and tightskin mice
    C Bona
    Mount Sinai Medical Center, New York
    Curr Opin Immunol 6:931-7. 1994
    ..In tightskin mice, the scleroderma syndrome is associated with autoimmunity, particularly autoantibodies interacting with scleroderma target antigens...
  19. pmc Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils
    H Zhang
    Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York 10029, USA
    J Cell Biol 129:1165-76. 1995
    ..Accordingly, we propose that fibrillin-1 provides mostly force-bearing structural support, whereas fibrillin-2 predominantly regulates the early process of elastic fiber assembly...
  20. ncbi A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541, USA
    Genome Res 6:300-13. 1996
    ..The microfibrillar glycoprotein gene, fibrillin 1 (FBN1), on human chromosome 15q, provided a candidate for the Tsk mutation...
  21. ncbi Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome
    L Pereira
    Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Genet 17:218-22. 1997
    ....
  22. pmc The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils
    C M Kielty
    School of Biological Sciences, University of Manchester, Manchester, M13 9PT, United Kingdom
    J Cell Biol 140:1159-66. 1998
    Mice carrying the Tight skin (Tsk) mutation harbor a genomic duplication within the fibrillin-1 (Fbn 1) gene that results in a larger than normal in-frame Fbn 1 transcript...
  23. pmc Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1
    L Pereira
    Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 96:3819-23. 1999
    ....
  24. pmc New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse
    B Gayraud
    Brookdale Center, Department of Biochemistry and Molecular Biology, Mount Sinai School of Medicine, New York University, New York, New York 10029, USA
    J Cell Biol 150:667-80. 2000
    The Tight skin (Tsk) mutation is a duplication of the mouse fibrillin 1 (Fbn1) gene that results in a larger (418 kD) than normal (350 kD) protein; Tsk/+ mice display increased connective tissue, bone overgrowth, and lung emphysema...
  25. pmc Regulation of limb patterning by extracellular microfibrils
    E Arteaga-Solis
    Brookdale Center, Department of Biochemistry and Molecular Biology, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Cell Biol 154:275-81. 2001
    ..We also demonstrate that the Fbn2- null mutation is allelic to the recessive shaker-with-syndactyly (sy) locus on chromosome 18...
  26. pmc CD19-dependent B lymphocyte signaling thresholds influence skin fibrosis and autoimmunity in the tight-skin mouse
    Eriko Saito
    Department of Dermatology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
    J Clin Invest 109:1453-62. 2002
    The tight-skin (TSK/+) mouse, a genetic model for human systemic sclerosis (SSc), develops cutaneous fibrosis and autoantibodies against SSc-specific target autoantigens...
  27. ncbi Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences
    Noe L Charbonneau
    Department of Biochemistry and Molecular Biology, Shriners Hospital for Children, Oregon Health and Science University, Portland 97201, USA
    J Biol Chem 278:2740-9. 2003
    ..This surprising finding implicates distinct functions for fibrillin-2 in peripheral nerves, because a unique feature in humans and in mice mutant for fibrillin-2 is joint contractures that resolve over time...
  28. ncbi 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...
  29. pmc Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
    Daniel P Judge
    Division of Cardiology, Johns Hopkins University, Baltimore, Maryland 21205, USA
    J Clin Invest 114:172-81. 2004
    ..In keeping with this model, introduction of a WT FBN1 transgene on a heterozygous C1039G background rescues aortic phenotype...
  30. pmc TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
    Connie M Ng
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    J Clin Invest 114:1586-92. 2004
    ....
  31. pmc Fibrillins 1 and 2 perform partially overlapping functions during aortic development
    Luca 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
    ....
  32. ncbi Emilin1 links TGF-beta maturation to blood pressure homeostasis
    Luca Zacchigna
    Developmental Signaling Laboratory, Department of Histology Microbiology and Medical Biotechnologies, University of Padua, viale Colombo 3, 35121 Padua, Italy
    Cell 124:929-42. 2006
    ..This study highlights the importance of modulation of TGF-beta availability in the pathogenesis of hypertension...
  33. pmc 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
    ....
  34. pmc BMP1 controls TGFbeta1 activation via cleavage of latent TGFbeta-binding protein
    Gaoxiang Ge
    Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA
    J Cell Biol 175:111-20. 2006
    ..TGFbeta1 is a potent inducer of ECM formation and of BMP1 expression. Thus, a role for BMP1-like proteinases in TGFbeta1 activation completes a novel fast-forward loop in vertebrate tissue remodeling...
  35. pmc 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...
  36. ncbi Effects of D-4F on vasodilation, oxidative stress, angiostatin, myocardial inflammation, and angiogenic potential in tight-skin mice
    Dorothee Weihrauch
    Cardiovascular Center, Medical College of Wisconsin, 8701 Watertown Plank Road, CVC M 4060, Milwaukee, WI 53226, USA
    Am J Physiol Heart Circ Physiol 293:H1432-41. 2007
    ..b>Tight skin mice (Tsk(-/+)) have a defect in fibrillin-1, resulting in replication of many of the myocardial and vascular ..
  37. pmc p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice
    Luca Carta
    Department of Pharmacology and Systems Therapeutics and the Cardiovascular Institute, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Biol Chem 284:5630-6. 2009
    ..Collectively, these findings indicate that improper activation of p38 MAPK is a precursor of constitutive Smad2/3 signaling in the aortic wall of a mouse model of neonatal lethal Marfan syndrome...
  38. pmc Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites
    Robert N Ono
    Shriners Hospital for Children, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 284:16872-81. 2009
    ..These studies also suggest that the fibulins may affect matrix sequestration of LTBPs, because in vitro interactions between these proteins are competitive...
  39. pmc Complex integration of matrix, oxidative stress, and apoptosis in genetic emphysema
    Megan Podowski
    Divisionsof Pulmonary, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Pathol 175:84-96. 2009
    ..We hypothesized that the tight-skin (TSK) mouse, which harbors a spontaneous internal duplication in the microfibrillar glycoprotein fibrillin-1, might show ..
  40. pmc ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation
    Ko Tsutsui
    Sekiguchi Biomatrix Signaling Project, Exploratory Research for Advanced Technology, Japan Science and Technology Agency, Aichi Medical University, Nagakute, Aichi 480 1195, Japan
    J Biol Chem 285:4870-82. 2010
    ..All together, these results indicated that ADAMTSL-6 is a novel microfibril-associated protein that binds directly to fibrillin-1 and promotes fibrillin-1 matrix assembly...
  41. pmc Microfibril structure masks fibrillin-2 in postnatal tissues
    Noe L Charbonneau
    Shriners Hospital for Children, 3101 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    J Biol Chem 285:20242-51. 2010
    ..Furthermore, documentation of a novel cryptic site present in EGF4 in fibrillin-1 underscores the molecular complexity and tissue-specific differences in microfibril structure...
  42. pmc Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation
    Harikiran Nistala
    Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, NY 10021, USA
    J Cell Biol 190:1107-21. 2010
    ..Together, these findings identify the extracellular microfibrils as critical regulators of bone formation through the modulation of endogenous TGF-β and BMP signaling...
  43. pmc Abnormal fibrillin-1 expression and chronic oxidative stress mediate endothelial mesenchymal transition in a murine model of systemic sclerosis
    Hao Xu
    Dept of Anesthesiology, Cardiovascular Center, Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee, WI 53226, USA
    Am J Physiol Cell Physiol 300:C550-6. 2011
    ..The tight-skin (Tsk(-/+)) mouse is a model of SSc that displays many of the cellular features of the clinical disease...
  44. pmc Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism
    Jennifer P Habashi
    Howard Hughes Medical Institute and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Science 332:361-5. 2011
    ..These data highlight the protective nature of AT2 signaling and potentially inform the choice of therapies in MFS and related disorders...
  45. pmc Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
    Carine Le Goff
    Department of Genetics, Universite Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 89:7-14. 2011
    ..After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is ..
  46. pmc Mesenchymal-stem-cell-induced immunoregulation involves FAS-ligand-/FAS-mediated T cell apoptosis
    Kentaro Akiyama
    Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, 2250 Alcazar Street, CSA 103, Los Angeles, CA 90033, USA
    Cell Stem Cell 10:544-55. 2012
    ..These data therefore demonstrate a previously unrecognized mechanism underlying BMMSC-based immunotherapy involving coupling via FAS/FASL to induce T cell apoptosis...
  47. pmc MMP-2 regulates Erk1/2 phosphorylation and aortic dilatation in Marfan syndrome
    Wanfen Xiong
    Department of Surgery, University of Nebraska Medical Center, Omaha, NE 68198 7690, USA
    Circ Res 110:e92-e101. 2012
    ..Losartan has been shown to prevent aneurysms in another mouse model of MFS, Fbn1(C1039G/+), through inhibition of the Erk1/2 pathway. However, the role of MMP-2 in MFS and effect of losartan on the lifespan of MFS mice remain unknown...
  48. ncbi Microfibrils at basement membrane zones interact with perlecan via fibrillin-1
    Kerstin Tiedemann
    Department of Medical Molecular Biology, University of Lubeck, 23538 Lubeck, Germany
    J Biol Chem 280:11404-12. 2005
    ..The data presented indicate a functional significance for perlecan in anchoring microfibrils to basement membranes and in the biogenesis of microfibrils...
  49. ncbi Hammerhead ribozyme-mediated silencing of the mutant fibrillin-1 of tight skin mouse: insight into the functional role of mutant fibrillin-1
    Rajesh P Menon
    Centre for Rheumatology, Royal Free and University College Medical School, Division of Medicine, University College London Hampstead Campus, Rowland Hill Street, London NW3 2PF2, UK
    Exp Cell Res 312:1463-74. 2006
    The tight skin (Tsk/+) mouse is a model for fibrotic disorders. The genetic defect in the Tsk/+ is an in-frame duplication between exons 17 and 40 of the fibrillin-1 gene which gives rise to a large transcript and protein...
  50. pmc In vivo studies of mutant fibrillin-1 microfibrils
    Noe L Charbonneau
    Shriners Hospital for Children, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 285:24943-55. 2010
    ..Taken together, these results suggest that perturbation of microfibril structure may underlie one of the major features of the Marfan syndrome: fragmentation of aortic elastic lamellae...
  51. ncbi Increased collagen biosynthesis and increased expression of type I and type III procollagen genes in tight skin (TSK) mouse fibroblasts
    S A Jimenez
    J Biol Chem 261:657-62. 1986
    The Tight Skin (TSK) mouse is a mutant strain that displays connective tissue abnormalities characterized by excessive accumulation of collagen in skin, subcutaneous tissues, and some internal organs such as the heart...
  52. ncbi Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18
    X Li
    Howard Hughes Medical Institute, Stanford University Medical Center, California 94305 5428
    Genomics 18:667-72. 1993
    ..In addition, the Fbn-1 gene maps in the vicinity of the gene for a connective tissue disorder on mouse chromosome 2 called Tight-skin (Tsk).
  53. ncbi Fibrillln mutations in Marfan syndrome and related phenotypes
    F Ramirez
    Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029, USA
    Curr Opin Genet Dev 6:309-15. 1996
    A casual association has been established between mutations in the fibrillin 1 gene and Marfan syndrome and related phenotypes. Analysis of mutations in these disease types has provided new insights into microfibril assembly and function...
  54. ncbi Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse
    C A Bona
    Department of Microbiology, Mount Sinai School of Medicine, New York, USA
    DNA Res 4:267-71. 1997
    Mice carrying the tight skin (TSK) mutation harbors a 3.0-kb genomic duplication (exons 17-40) of the fibrillin-1 gene (Fbn-1) located on band F of chromosome 2 as TSK mutation...
  55. ncbi B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene
    K N Kasturi
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Autoimmun 10:505-17. 1997
    Tight-skin (TSK) mouse, the experimental model for scleroderma, develops cutaneous hyperplasia, cardiac hypertrophy, pulmonary emphysema and autoimmunity against scleroderma target autoantigens...
  56. ncbi Duchenne-like myopathy in double-mutant mdx mice expressing exaggerated mast cell activity
    J A Granchelli
    Department of Biological Sciences, University at Buffalo, NY 14260 1300, USA
    J Neurol Sci 131:1-7. 1995
    Dystrophin-deficient female mdx mice were bred with male Tsk+/+ pa mice to examine the role played by mast cells in the pathophysiology of dystrophin deficiency...
  57. ncbi Primary structure and developmental expression of Fbn-1, the mouse fibrillin gene
    W Yin
    Department of Pathology, University of Michigan, Ann Arbor 48109 0650
    J Biol Chem 270:1798-806. 1995
    ..A survey of expression in mouse embryo tissues is consistent with this hypothesis and suggests two novel functions for fibrillin-associated microfibrils in non-elastic connective tissues...
  58. ncbi Inhibition of collagen synthesis and changes in skin morphology in murine graft-versus-host disease and tight skin mice: effect of halofuginone
    F Levi-Schaffer
    Department of Pharmacology, Hebrew University of Jerusalem, Israel
    J Invest Dermatol 106:84-8. 1996
    ..was evaluated in two in vivo models of scleroderma: the murine chronic graft-versus-host disease (cGvHD) and the tight skin mouse...
  59. ncbi Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly
    Akiyo S Penner
    Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Barnes Jewish Hospital at Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 277:35044-9. 2002
    ..The results also demonstrate the utility of the yeast two-hybrid system to study protein-protein interactions of the extracellular matrix...
  60. pmc Discrete contributions of elastic fiber components to arterial development and mechanical compliance
    Luca Carta
    Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Arterioscler Thromb Vasc Biol 29:2083-9. 2009
    ..A genetic approach was therefore used here to distinguish the differential contributions of elastin and fibrillin-1 to arterial development and compliance...
  61. pmc Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production
    Harikiran Nistala
    Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, New York 10021, USA
    J Biol Chem 285:34126-33. 2010
    ....
  62. pmc Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome
    Harikiran Nistala
    Department of Pharmacology and Systems Therapeutics at the Mount Sinai School of Medicine, New York, NY 10029, USA
    Hum Mol Genet 19:4790-8. 2010
    ..Taken together, our findings shed new light on the pathogenesis of osteopenia in MFS, in addition to arguing for a multifaceted treatment strategy in this congenital disorder of the connective tissue...
  63. pmc Transforming growth factor Beta2 is required for valve remodeling during heart development
    Mohamad Azhar
    BIO5 Institute, University of Arizona, Tucson, Arizona Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA
    Dev Dyn 240:2127-41. 2011
    ..Collectively, the data indicate that TGFβ2 promotes valve remodeling and differentiation by inducing matrix organization and suppressing cushion mesenchyme differentiation into cartilage cell lineage during heart development...
  64. pmc Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome
    Russell A Gould
    Department of Biomedical Engineering, Cornell University, Ithaca, New York, United States of America
    PLoS ONE 7:e44639. 2012
    ..Decoupling of local cell-matrix deformation kinematics with global tissue stretch may be an important mechanism of normal and pathological biomechanical remodeling in valves...
  65. pmc Hepatocyte growth factor, a determinant of airspace homeostasis in the murine lung
    Carla Calvi
    Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    PLoS Genet 9:e1003228. 2013
    ..Repair in the TSK/+ mouse was punctuated by enhanced akt and stat3 activation...
  66. doi α5 and αv integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo
    Christopher J Turner
    Howard Hughes Medical Institute, Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Development 142:797-808. 2015
    ..Analysis of cultured α5/αv-deficient vSMCs suggests that this is achieved, at least in part, through proper assembly of RGD-containing extracellular matrix proteins and the correct incorporation and activation of latent TGF-β. ..
  67. pmc The role of β-arrestin2-dependent signaling in thoracic aortic aneurysm formation in a murine model of Marfan syndrome
    James W Wisler
    Department of Medicine, Duke University Medical Center, Durham, North Carolina
    Am J Physiol Heart Circ Physiol 309:H1516-27. 2015
    ..Importantly, this demonstration of the unique signaling mechanism by which βarr2 contributes to aneurysm formation identifies multiple novel, potential therapeutic targets in MFS. ..
  68. pmc Characterization of metabolic health in mouse models of fibrillin-1 perturbation
    Tezin A Walji
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Matrix Biol 55:63-76. 2016
    ..Our findings suggest that Marfan-associated adipocyte hypoplasia is likely not due to microfibril-associated changes in adipose tissue, and provide evidence that MAGP1 may function independently of fibrillin in some tissues...
  69. doi Targeting of EMILIN-1 and EMILIN-2 to Fibrillin Microfibrils Facilitates their Incorporation into the Extracellular Matrix
    Alvise Schiavinato
    Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany Department of Molecular Medicine, University of Padova, Padova, Italy
    J Invest Dermatol 136:1150-60. 2016
    ..The addition of EMILINs to the ligand repertoire of fibrillin strengthens the concept of fibrillin microfibrils as extracellular scaffolds integrating cellular force transmission and growth factor bioactivity. ..
  70. ncbi Microfibril-associated MAGP-2 stimulates elastic fiber assembly
    Raphael Lemaire
    Department of Medicine, Arthritis Center, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    J Biol Chem 282:800-8. 2007
    ....
  71. pmc Aortic aneurysm generation in mice with targeted deletion of integrin-linked kinase in vascular smooth muscle cells
    Dongxiao Shen
    Cardiovascular Research Center, Massachusetts General Hospital East 8307, Charlestown, MA 02129, USA
    Circ Res 109:616-28. 2011
    ..ILK plays a role in the activation of kinases including protein kinase B/Akt and glycogen synthase kinase 3β and regulates cell proliferation, motility, and survival...
  72. pmc Putative functions of extracellular matrix glycoproteins in secondary palate morphogenesis
    Rocca d'Amaro
    Department of Orthodontics and Dentofacial Orthopedics, School of Dental Medicine, University of Bern Bern, Switzerland
    Front Physiol 3:377. 2012
    ..Our results indicate that distinct ECM proteins are important for morphogenesis of the secondary palate, both as downstream effectors and as regulators of Tgf-β/Bmp activity...
  73. doi Comparative immunolocalisation of fibrillin-1 and perlecan in the human foetal, and HS-deficient hspg2 exon 3 null mutant mouse intervertebral disc
    Anthony J Hayes
    Confocal Microscopy Unit, Cardiff School of Biosciences, Cardiff University, Cardiff CF10 3US, Wales, UK
    Histochem Cell Biol 139:1-11. 2013
    ..The ability of fibrillin-1 to sequester TGF-β a well-known anabolic growth factor in the IVD also suggests potential roles in disc development and/or remodelling...
  74. pmc Effect of angiotensin II receptor blocker on experimental periodontitis in a mouse model of Marfan syndrome
    Naoto Suda
    Division of Orthodontics, Department of Human Development and Fostering, Meikai University School of Dentistry, Saitama, Japan
    Infect Immun 81:182-8. 2013
    ..This study suggests that ARB can prevent the severe periodontitis frequently seen in Marfan syndrome...
  75. ncbi Urinary bladder function in the tight-skin mouse
    P A Longhurst
    Division of Urology, University of Pennsylvania School of Medicine, Philadelphia
    J Urol 148:1611-4. 1992
    ..It is suggested that other factors, such as the ratio of collagen subtypes or the collagen:elastin ratio may have more importance for the maintenance of bladder distension...
  76. ncbi Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis
    G A Rossi
    Am Rev Respir Dis 129:850-5. 1984
    The tight-skin (Tsk/+) mouse is a genetically determined model characterized by alveolar enlargement and physiologic evidence of emphysema...
  77. ncbi Tight-skin mouse autoantibody repertoire: analysis of VH and VK gene usage
    K N Kasturi
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029
    Mol Immunol 30:969-78. 1993
    In the previous studies we have shown that tight-skin (TSK) mouse is an experimental model for systemic sclerosis. This mutant mouse develops autoantibodies specific for scleroderma target antigens...
  78. ncbi The tight skin (Tsk) mutation in the mouse, a model for human fibrotic diseases, is tightly linked to the beta 2-microglobulin (B2m) gene on chromosome 2
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Institute, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541
    Genomics 17:748-51. 1993
    The Tsk mutation in the mouse is characterized by the excessive accumulation of collagen in skin and various internal organs, including the heart and lungs...
  79. ncbi A role for CD4+ T cells in the pathogenesis of skin fibrosis in tight skin mice
    V A Wallace
    Amgen Institute, Department of Immunology, University of Toronto, Ontario, Canada
    Eur J Immunol 24:1463-6. 1994
    The tight skin (Tsk/+) mouse represents a murine model of heritable fibrosis with some similarities to the skin fibrosis seen in human scleroderma. Tsk/+ animals display alterations in connective tissue in some internal organs...
  80. ncbi Tight-skin (Tsk) maps on mouse chromosome 2 within the region of linkage homology with human chromosome 15
    R C Doute
    DVA Medical Center, Newington, Connecticut 06111
    Genomics 22:223-5. 1994
    The tight-skin (Tsk) mutation has been mapped to mouse chromosome 2 between the visible markers pallid (pa) and agouti (a)...
  81. pmc Molecular characterization of J558 genes encoding tight-skin mouse autoantibodies: identical heavy-chain variable genes code for antibodies with different specificities
    K N Kasturi
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029 6574
    Proc Natl Acad Sci U S A 91:8067-71. 1994
    ..Finally, in contrast to normal and other autoimmune mouse strains, the frequencies of D-D fusions and D inversions were higher in tight-skin mouse total immunoglobulin as well as autoantibody repertoires...
  82. ncbi The synthetic retinoid (4-hydroxyphenyl)retinamide decreases collagen expression in vitro and in the tight-skin mouse
    A M Delany
    Department of Medicine, Dartmouth Medical School, Hanover, New Hampshire 03755 3844
    Arthritis Rheum 36:983-93. 1993
    ..We documented the effect of the retinoid (4-hydroxyphenyl)retinamide on collagen expression in a tissue culture and in an animal model of scleroderma...
  83. ncbi Apoptosis and proliferation of fibroblasts during postnatal skin development and scleroderma in the tight-skin mouse
    J L Pablos
    Servicio de Reumatologia, Hospital 12 de Octubre, Madrid, Spain
    J Histochem Cytochem 45:711-9. 1997
    Tight-skin (Tsk) is a dominant gene mutation that causes a fibrotic skin disease in mice, similar to human scleroderma...
  84. ncbi Partial cloning and sequencing of chick fibrillin-1 cDNA
    G Zhou
    Munroe Center for Human Genetics, University of Nebraska Medical Center, Omaha 68198 5430, USA
    In Vitro Cell Dev Biol Anim 36:19-25. 2000
    ..Antisense and sense riboprobes were synthesized and used in in situ hybridization in stage 14 chick embryos and high levels of FBN1 transcripts were observed in the heart...
  85. pmc Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development
    J M Shipley
    Department of Medicine, Barnes Jewish Hospital at Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Cell Biol 20:4879-87. 2000
    ....
  86. ncbi Isoform-selective upregulation of mast cell chymase in the development of skin fibrosis in scleroderma model mice
    E Kakizoe
    Department of Pharmacology, Shimane Medical University, Izumo, Shimane, Japan
    J Invest Dermatol 116:118-23. 2001
    ..These results strongly support the contention that the connective-tissue-type mast cell chymase plays a crucial role in fibroproliferative remodeling of the skin...
  87. ncbi Aortic wall mechanics and composition in a transgenic mouse model of Marfan syndrome
    V Marque
    Laboratoire de Pharmacologie Cardiovasculaire, Faculte de Pharmacie, Université Henri Poincaré Nancy, Nancy, France
    Arterioscler Thromb Vasc Biol 21:1184-9. 2001
    ..This result suggests that fragmentation of the medial elastic network and not a defect in early elastogenesis is 1 of the determinants of aortic dilatation in Marfan syndrome...
  88. ncbi BAFF antagonist attenuates the development of skin fibrosis in tight-skin mice
    Takashi Matsushita
    Department of Dermatology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
    J Invest Dermatol 127:2772-80. 2007
    The tight-skin (TSK/+) mouse, a genetic model for systemic sclerosis (SSc), develops cutaneous fibrosis and autoimmunity...
  89. pmc Targeted disruption of NeuroD, a proneural basic helix-loop-helix factor, impairs distal lung formation and neuroendocrine morphology in the neonatal lung
    Enid R Neptune
    Division of Pulmonary and Critical Care Medicine, Institute of Genetic Medicine, Howard Hughes Medical Institute, Department of Pathology, The Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
    J Biol Chem 283:21160-9. 2008
    ..These results support an unanticipated role for NeuroD in the regulation of pulmonary neuroendocrine and alveolar morphogenesis and suggest an intimate connection between the neuroendocrine compartment and distal lung development...
  90. doi Validation of nasal potential difference measurements in gut-corrected CF knockout mice
    Uta Griesenbach
    Department of Gene Therapy, Faculty of Medicine, National Heart and Lung Institute, Imperial College London, London, United Kingdom
    Am J Respir Cell Mol Biol 39:490-6. 2008
    ..These data should allow a more informed use of CF animals in future studies...
  91. pmc The Mohawk homeobox gene is a critical regulator of tendon differentiation
    Yoshiaki Ito
    Department of Systems Biomedicine, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Proc Natl Acad Sci U S A 107:10538-42. 2010
    ..These data indicate that Mkx plays a critical role in tendon differentiation by regulating type I collagen production in tendon cells...
  92. pmc Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice
    Tammy M Holm
    Howard Hughes Medical Institute and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Science 332:358-61. 2011
    ..Thus, noncanonical (Smad-independent) TGFβ signaling is a prominent driver of aortic disease in MFS mice, and inhibition of the ERK1/2 or JNK1 pathways is a potential therapeutic strategy for the disease...
  93. ncbi Lung collagen synthesis and deposition in tight-skin mice with genetic emphysema
    C Gardi
    Institute of General Pathology, University of Siena, Italy
    Exp Mol Pathol 56:163-72. 1992
    The tight-skin (Tsk) mouse is a genetic model of pulmonary emphysema linked to a deficiency of serum antielastase. In this mouse occurrence of connective tissue abnormalities in various organs (systemic scleroderma) has been reported...
  94. ncbi Granulated metrial gland cells in the pregnant uterus of mice expressing the collagen mutation tight-skin (Tsk/+)
    Y Kiso
    Department of Biomedical Sciences, Ontario Veterinary College, University of Guelph, Canada
    Cell Tissue Res 268:393-6. 1992
    ..killer (NK)-like cell subset, were studied by histological examination of implantation sites in the mouse mutant Tsk/+. Tsk/+ mice overproduce collagens I and III...
  95. pmc Nucleotide sequences of liver, lachrymal, and submaxillary gland mouse major urinary protein mRNAs: mosaic structure and construction of panels of gene-specific synthetic oligonucleotide probes
    K Shahan
    Mol Cell Biol 7:1938-46. 1987
    ..Shahan, M. Denaro, M. Gilmartin, Y. Shi, and E. Derman, Mol. Cell. Biol. 7:1947-1954, 1987), to characterize the expression of MUP genes I through V...
  96. ncbi Mast cells and their degranulation in the Tsk mouse model of scleroderma
    M Walker
    Proc Soc Exp Biol Med 180:323-8. 1985
    The Tsk mouse is a genetically transmitted example of cutaneous fibrosis which has been compared with human scleroderma...
  97. ncbi Delayed-type hypersensitivity to elastase-soluble lung peptides in the tight-skin (Tsk) mouse
    F A DeLustro
    Cell Immunol 81:175-9. 1983
    ..of immunity to homologous connective tissue antigens was studied with respect to aging in the tight-skin (Tsk) mouse mutant...
  98. ncbi The tight-skin mouse: an animal model of inherited emphysema
    G A Rossi
    Bull Eur Physiopathol Respir 16:157-66. 1980
  99. ncbi A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene
    N Chiannilkulchai
    Genethon, Evry, France
    Hum Mol Genet 4:717-25. 1995
    ..They were characterized for their sequences, physical positions within the YAC contig, and expression patterns. Among those specifically transcribed in muscle, the calpain gene is a good positional and functional candidate for LGMD2A...
  100. ncbi Transforming growth factor-beta 1 and collagen gene expression during postnatal skin development and fibrosis in the tight-skin mouse
    J L Pablos
    Servicio de Reumatologia, Hospital 12 de Octubre, Madrid, Spain
    Lab Invest 72:670-8. 1995
    The tight-skin (Tsk) mutation in the mouse leads to widespread connective tissue abnormalities characterized by excessive collagen deposition that is similar to that observed in human scleroderma...
  101. pmc Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype
    Z A Eldadah
    Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    J Clin Invest 95:874-80. 1995
    ..Lastly, this substantiation of a dominant-negative effect offers mutant allele knockout as a potential strategy for gene therapy...

Research Grants3

  1. Alveolization in Fibrillin-1 Defective Mice
    Enid Neptune; Fiscal Year: 2005
    ..abstract_text> ..
  2. 2005 Elastin and Elastic Fibers Gordon Conference
    CATHERINE KIELTY; Fiscal Year: 2005
    ..As in past years, these personal interactions will result in new collaborative studies and stimulate novel avenues of elastic fiber investigation. ..
  3. Gene expression networks for metabolic syndrome traits in mice
    Thomas A Drake; Fiscal Year: 2010
    ....