FBN1

Summary

Gene Symbol: FBN1
Description: fibrillin 1
Alias: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, fibrillin-1, asprosin, fibrillin 15, fibrillin-1 preproprotein
Species: human

Top Publications

  1. ncbi Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment
    Gao Guo
    Institute of Medical Genetics, Charite Universitatsmedizin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    Circulation 114:1855-62. 2006
  2. ncbi Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
    Gabor Matyas
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, 8603, Schwerzenbach, Zurich, Switzerland
    Hum Genet 122:23-32. 2007
  3. pmc The microfibrillar proteins MAGP-1 and fibrillin-1 form a ternary complex with the chondroitin sulfate proteoglycan decorin
    B C Trask
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Mol Biol Cell 11:1499-507. 2000
  4. ncbi Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations
    F K Tan
    The University of Texas Houston Medical School, 77030, USA
    Arthritis Rheum 44:893-901. 2001
  5. ncbi Versican interacts with fibrillin-1 and links extracellular microfibrils to other connective tissue networks
    Zenzo Isogai
    Shriners Hospital for Children and the Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon 97201, USA
    J Biol Chem 277:4565-72. 2002
  6. pmc A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
    Massimo Caputi
    Department of Biology, Johns Hopkins University, Baltimore, Maryland 21218, USA
    Genes Dev 16:1754-9. 2002
  7. 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
  8. ncbi Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1
    Annie C Singleton
    School of Dentistry, University of Washington, Seattle, Washington, USA
    Hum Mutat 25:348-52. 2005
  9. ncbi Induction of apoptosis and fibrillin 1 expression in human dermal endothelial cells by scleroderma sera containing anti-endothelial cell antibodies
    S Sohail Ahmed
    Boston University School of Medicine, Arthritis Center E 5, 715 Albany Street, Boston, MA 02118, USA
    Arthritis Rheum 54:2250-62. 2006
  10. ncbi Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration
    Stephen E McGowan
    Department of Veterans Affairs Research Service and University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
    Am J Respir Cell Mol Biol 38:435-45. 2008

Detail Information

Publications297 found, 100 shown here

  1. ncbi Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment
    Gao Guo
    Institute of Medical Genetics, Charite Universitatsmedizin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    Circulation 114:1855-62. 2006
    ..The primary cause of early death in untreated Marfan syndrome (MFS) patients is aortic dilatation and dissection...
  2. ncbi Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
    Gabor Matyas
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, 8603, Schwerzenbach, Zurich, Switzerland
    Hum Genet 122:23-32. 2007
    Mutations in the FBN1 gene are the major cause of Marfan syndrome (MFS), an autosomal dominant connective tissue disorder, which displays variable manifestations in the cardiovascular, ocular, and skeletal systems...
  3. pmc The microfibrillar proteins MAGP-1 and fibrillin-1 form a ternary complex with the chondroitin sulfate proteoglycan decorin
    B C Trask
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Mol Biol Cell 11:1499-507. 2000
    ..Sulfation of matrix proteins is important for elastic fiber assembly because inhibition of sulfation was shown to prevent microfibrillar protein incorporation into the extracellular matrix of cultured cells...
  4. ncbi Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations
    F K Tan
    The University of Texas Houston Medical School, 77030, USA
    Arthritis Rheum 44:893-901. 2001
    ..we demonstrated with the use of microsatellite markers that a 2-cM haplotype on chromosome 15q containing the fibrillin 1 gene (FBN1) was strongly associated with systemic sclerosis (SSc) in the Choctaw, a population with high SSc ..
  5. ncbi Versican interacts with fibrillin-1 and links extracellular microfibrils to other connective tissue networks
    Zenzo Isogai
    Shriners Hospital for Children and the Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon 97201, USA
    J Biol Chem 277:4565-72. 2002
    ..The connection between versican and fibrillin microfibrils may be functionally significant, particularly in cardiovascular tissues...
  6. pmc A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
    Massimo Caputi
    Department of Biology, Johns Hopkins University, Baltimore, Maryland 21218, USA
    Genes Dev 16:1754-9. 2002
    A nonsense mutation in the fibrillin-1 (FBN1) gene of a Marfan syndrome (MFS) patient induces in-frame exon skipping of FBN1 exon 51...
  7. 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...
  8. ncbi Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1
    Annie C Singleton
    School of Dentistry, University of Washington, Seattle, Washington, USA
    Hum Mutat 25:348-52. 2005
    Marfan Syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin-1 gene (FBN1)...
  9. ncbi Induction of apoptosis and fibrillin 1 expression in human dermal endothelial cells by scleroderma sera containing anti-endothelial cell antibodies
    S Sohail Ahmed
    Boston University School of Medicine, Arthritis Center E 5, 715 Albany Street, Boston, MA 02118, USA
    Arthritis Rheum 54:2250-62. 2006
    ....
  10. ncbi Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration
    Stephen E McGowan
    Department of Veterans Affairs Research Service and University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
    Am J Respir Cell Mol Biol 38:435-45. 2008
    ..Understanding how fibrillins regulate LF migration may help elucidate how the elastic fiber system could be restored as an interconnected unit, which fails to occur in emphysematous lungs...
  11. doi Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations
    B Söylen
    Institute of Human Genetics, Hannover Medical School, Germany
    Clin Genet 75:265-70. 2009
    Marfan syndrome is an autosomal dominant disorder involving different organ systems. Marfan syndrome type 1 (MFS1) is caused by mutations in the FBN1 gene...
  12. ncbi Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
    H C Dietz
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    Nature 352:337-9. 1991
    ..00; logarithm of the odds (lod) = 3.9) and describe a de novo missense mutation in the fibrillin gene in two patients with sporadic disease. We thus implicate fibrillin as the protein defective in patients with the Marfan syndrome...
  13. pmc Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
    L Y Sakai
    J Cell Biol 103:2499-509. 1986
    ..Electrophoresis of the disulfide bond-reduced protein gave a single band with an estimated molecular mass of 350,000 D. This 350-kD protein appeared to possess intrachain disulfide bonds...
  14. pmc A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection
    U Francke
    Howard Hughes Medical Institute, Stanford University Medical Center, CA, USA
    Am J Hum Genet 56:1287-96. 1995
    ..Single-strand conformation analysis of the entire fibrillin-1 (FBN1) cDNA of an affected family member revealed a G-to-A transition at nucleotide 3379, predicting a Gly1127Ser ..
  15. ncbi Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1
    M K Wirtz
    Department of Ophthalmology, Casey Eye Institute, Oregon Health Sciences University, Portland 97201 4197, USA
    Am J Med Genet 65:68-75. 1996
    ..1, are candidate genes for Weill-Marchesani syndrome. Immunohistochemistry staining of skin sections from family 1 showed an apparent decrease in fibrillin staining compared to control individuals...
  16. pmc In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
    L Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:34-6. 2003
    Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and ..
  17. doi FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations
    M Attanasio
    Department of Medical and Surgical Critical Care, Center of the Study at Molecular and Clinical Level of Chronic, Degenerative and Neoplastic Disease to Develop Novel Therapies, University of Florence, Florence, Italy
    Clin Genet 74:39-46. 2008
    Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission...
  18. pmc Biogenesis of extracellular microfibrils: Multimerization of the fibrillin-1 C terminus into bead-like structures enables self-assembly
    Dirk Hubmacher
    Faculty of Medicine, Department of Anatomy and Cell Biology and Faculty of Dentistry, Division of Biomedical Sciences, McGill University, Montreal, QC, Canada
    Proc Natl Acad Sci U S A 105:6548-53. 2008
    ....
  19. pmc Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
    L Faivre
    Centre de Genetique, CHU, Dijon, France
    Eur J Hum Genet 17:491-501. 2009
    Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24-32...
  20. ncbi [Screening of FBN1 gene mutations in a family with Marfan syndrome]
    Peng Hao
    Tianjin Eye Hospital, Tianjin 300020, China
    Zhonghua Yan Ke Za Zhi 46:984-8. 2010
    To identify FBN1 gene mutations in a Chinese family with Marfan syndrome.
  21. 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 ..
  22. ncbi Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1
    Pat Whiteman
    Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
    Hum Mol Genet 16:907-18. 2007
    ..Complex folding of modular proteins should therefore be considered when interpreting the molecular pathology of single-gene disorders...
  23. pmc Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene
    H C Dietz
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    J Clin Invest 89:1674-80. 1992
    ....
  24. pmc A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype
    L Karttunen
    National Public Health Institute, Helsinki, Finland
    Am J Hum Genet 55:1083-91. 1994
    We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the ..
  25. ncbi Molecular genetics of Marfan syndrome
    Catherine Boileau
    INSERM U383, Hopital Necker Enfants Malades, Universite Paris 5, Paris, France
    Curr Opin Cardiol 20:194-200. 2005
    ..b>FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p24...
  26. ncbi Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
    Eloisa Arbustini
    Cardiovascular Genetic Laboratory Transplant Research Area GISM Interdisciplinary Group for Marfan Syndrome, IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy
    Hum Mutat 26:494. 2005
    ..Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin-1 gene (FBN1) in more than 90% of cases and Transforming Growth Factor-Beta-Receptor2 gene (TGFB2R) in a minority of cases...
  27. ncbi alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity
    Jelena Jovanovic
    Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, United Kingdom
    J Biol Chem 282:6743-51. 2007
    ..Non-focal contact distribution of alpha5beta1 suggests that its engagement by fibrillin-1 may elicit a lesser degree and/or different type of intracellular signaling compared with that seen with a high affinity ligand...
  28. doi DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner
    Risa Nonaka
    Department of Clinical Chemistry, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Tokyo, Japan
    Clin Biochem 42:713-21. 2009
    ....
  29. doi Cardiovascular manifestations in men and women carrying a FBN1 mutation
    Delphine Detaint
    AP HP, Hopital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F 75018, France
    Eur Heart J 31:2223-9. 2010
    ..This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation.
  30. doi Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year
    Chantal Stheneur
    Service de Pediatrie, Hopital Ambroise Pare, Boulogne, 92100 France
    Pediatr Res 69:265-70. 2011
    ..Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular ..
  31. doi Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1
    Brian T Wilson
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    Am J Med Genet A 161:2047-51. 2013
    Mutations in Fibrillin 1 (FBN1) are associated with Marfan syndrome and in some instances with the MASS phenotype (myopia, mitral valve prolapse, borderline non-progressive aortic root dilatation, skeletal features, and striae)...
  32. doi Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 161:3057-62. 2013
    ..e., exon 64, of FBN1, the causative gene for Marfan syndrome...
  33. ncbi Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1
    R E Magenis
    Department of Medical Genetics and Child Development, Oregon Health Sciences University, Portland 97201
    Genomics 11:346-51. 1991
    Fibrillin (FBN), a large extracellular matrix glycoprotein, is an important component of structures called microfibrils...
  34. ncbi Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils
    L Y Sakai
    Shriners Hospital for Crippled Children, Portland, Oregon 97201
    J Biol Chem 266:14763-70. 1991
    ..Additional ultrastructural immunohistochemical data presented here suggest a model for the parallel, head-to-tail alignment of fibrillin molecules in microfibrils...
  35. pmc An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome
    C Ståhl-Hallengren
    Department of Rheumatology, Lund University Hospital, Sweden
    J Clin Invest 94:709-13. 1994
    ..the phenotype of the family and a polymorphic marker in the vicinity of the fibrillin locus on chromosome 15 (FBN1)...
  36. pmc A new missense mutation of fibrillin in a patient with Marfan syndrome
    D R Hewett
    Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, Headington, UK
    J Med Genet 31:338-9. 1994
    ..A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein...
  37. ncbi A novel mutation of the fibrillin gene causing ectopia lentis
    L Lönnqvist
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Genomics 19:573-6. 1994
    ..inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies...
  38. ncbi Revised genomic organization of FBN1 and significance for regulated gene expression
    N J Biery
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA
    Genomics 56:70-7. 1999
    b>FBN1 encodes fibrillin-1, an extracellular matrix protein that is defective in Marfan syndrome. This gene is divided into 65 exons and was previously reported to be approximately 110 kb in length...
  39. pmc Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
    J Korkko
    Center for Gene Therapy and Department of Medicine, Tulane University Health Sciences Center, New Orleans, LA, USA
    J Med Genet 39:34-41. 2002
    It has been firmly established that mutations in the gene for fibrillin 1, FBN1, cause Marfan syndrome (MFS)...
  40. ncbi Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein
    Zenzo Isogai
    Department of Biochemistry and Molecular Biology, Shriners Hospital for Children, Oregon Health and Science University, Portland 97239, USA
    J Biol Chem 278:2750-7. 2003
    ..In tissues where LTBP-1 is not expressed, LTBP-4 may substitute for LTBP-1, because the C-terminal end of LTBP-4 binds equally well to fibrillin. A model depicting the relationship between LTBP-1 and fibrillin microfibrils is proposed...
  41. ncbi Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders
    Pat Whiteman
    Division of Molecular and Cellular Biochemistry, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
    Hum Mol Genet 12:727-37. 2003
    ..Mutations in the fibrillin-1 gene (FBN1) cause Marfan syndrome and related connective tissue disorders (fibrillinopathies) that show autosomal dominant ..
  42. ncbi Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins
    Daniel V Bax
    United Kingdom Centre for Tissue Engineering, School of Biological Sciences, University of Manchester, United Kingdom
    J Biol Chem 278:34605-16. 2003
    ....
  43. ncbi Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome
    Kathrin Rommel
    Institute of Human Genetics, Medizinische Hochschule Hannover, Hannover, Germany
    Hum Mutat 26:529-39. 2005
    ..disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils...
  44. pmc Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
    Chantal Stheneur
    AP HP, Hopital Ambroise Pare, Service de Pediatrie, Boulogne, France
    Eur J Hum Genet 17:1121-8. 2009
    Mutations identified in the fibrillin-1 (FBN1) gene have been associated with Marfan syndrome (MFS)...
  45. doi Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes
    Brian Hon Yin Chung
    Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong Special Administrative Region, China
    Am J Med Genet A 149:1452-9. 2009
    Marfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes...
  46. ncbi Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
    B Lee
    Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029
    Nature 352:330-4. 1991
    ..Thus, the cosegregation of two related genes with two related syndromes implies that fibrillin mutations are likely to be responsible for different MFS phenotypes...
  47. ncbi Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end
    G M Corson
    Shriners Hospital for Crippled Children, Portland, Oregon 97201
    Genomics 17:476-84. 1993
    ..We have previously published 6.9 kb of FBN1 cDNA sequence. FBN1 cDNA clones that extend the sequence 3089 bp in the 5' direction are described in this report...
  48. ncbi Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
    K Kainulainen
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Nat Genet 6:64-9. 1994
    Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus...
  49. ncbi Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
    H C Dietz
    Division of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    Genomics 17:468-75. 1993
    Defects of fibrillin (FBN1), a glycoprotein component of the extracellular microfibril, cause Marfan syndrome. This disorder is characterized by marked inter- and intrafamilial variation in phenotypic severity...
  50. pmc Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils
    X Yuan
    Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK
    EMBO J 16:6659-66. 1997
    ..Modelling of a homologous TB domain from LTBP-1 (residues 1018-1080) suggests that hydrophobic contacts may play a role in its interaction with the TGF-beta1 latency-associated peptide...
  51. pmc The molecular genetics of Marfan syndrome and related microfibrillopathies
    P N Robinson
    Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charite University Hospital, Humboldt University, D 10098 Berlin, Germany
    J Med Genet 37:9-25. 2000
    Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and ..
  52. ncbi Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1
    S A Jensen
    Department of Biochemistry G08, University of Sydney, New South Wales 2006, Australia
    J Biol Chem 276:39661-6. 2001
    ..MAGP-1 bound to a region at the N terminus of fibrillin-1 in a calcium-dependent manner. In summary, these results suggest a model for the interaction of elastin with the microfibrillar scaffold...
  53. ncbi TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
    Stefanie Katzke
    Institute of Medical Genetics, Charite University Hospital, Berlin, Germany
    Hum Mutat 20:197-208. 2002
    Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome (MFS), an autosomal dominant heritable disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system...
  54. ncbi Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils
    Guoqing Lin
    Department of Medical Molecular Biology, University of Lubeck, Germany
    J Biol Chem 277:50795-804. 2002
    ..This conclusion was further strengthened by double immunofluorescence labeling of microfibrils. In addition, the binding epitopes as well as the entire fibrillin molecules displayed very stable properties...
  55. ncbi LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein
    Rena Hirani
    Discipline of Pathology, School of Medical Sciences, University of Adelaide, Adelaide, South Australia 5005, Australia
    Matrix Biol 26:213-23. 2007
    ..Overall, the results support the concept that that LTBP-2 may be an indirect negative modulator for storage of the large latent TGF-beta complex on microfibrils in aorta and other fibrillin-rich tissues...
  56. ncbi Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients
    Chongfei Jin
    Eye Center, Second Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, China
    Mol Vis 13:1280-4. 2007
    To identify mutations in the fibrillin-1 gene (FBN1) and provide further information about genotype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus.
  57. doi Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains
    Philippe Khau Van Kien
    CHU Montpellier, Hopital Arnaud de Villeneuve, Laboratoire de Genetique Moleculaire, Montpellier, F 34000 France
    Hum Mutat 31:E1021-42. 2010
    ..cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p...
  58. pmc Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome
    Bo Meng
    Department of Ophthalmology, 2nd Affiliated Hospital of Harbin Medical University, Harbin, China
    Mol Vis 17:2421-7. 2011
    To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).
  59. 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
    ..Mutations in FBN1 are mainly responsible for the Marfan syndrome (MFS), recognized by its pleiotropic clinical features including ..
  60. ncbi Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains
    H C Dietz
    Division of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    Hum Mutat 1:366-74. 1992
    ..The gene on chromosome 15 encoding fibrillin (FBN1), a 350-kDa glycoprotein component of the extracellular microfibril, is the site of defect in most, if not all ..
  61. ncbi Partial sequence of a candidate gene for the Marfan syndrome
    C L Maslen
    Shriners Hospital for Crippled Children, Portland, Oregon 97201
    Nature 352:334-7. 1991
    Fibrillin is a large (relative molecular mass 350,000) glycoprotein which can be isolated from fibroblast cell cultures and is a component of the microfibrils that are ubiquitous in the connective tissue space...
  62. pmc Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
    G Nijbroek
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 57:8-21. 1995
    Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS)...
  63. pmc A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome
    D M Milewicz
    Department of Internal Medicine, University of Texas Houston Medical School 77030, USA
    J Clin Invest 95:2373-8. 1995
    ..Sequencing of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 8176 resulting in the substitution of a tryptophan for ..
  64. ncbi Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients
    C Hayward
    Human Genetics Unit, University of Edinburgh, Western General Hospital, UK
    Hum Mol Genet 3:373-5. 1994
  65. pmc Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices
    H Zhang
    Brookdale Center for Molecular Biology, Mt Sinai School of Medicine, New York 10029 6574
    J Cell Biol 124:855-63. 1994
    During the previous cloning of the fibrillin gene (FBN1), we isolated a partial cDNA coding for a fibrillin-like peptide and mapped the corresponding gene (FBN2) to human chromosome 5. (Lee, B., M. Godfrey, E. Vitale, H. Hori, M. G...
  66. ncbi Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
    L Pereira
    Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, NY 10029
    Hum Mol Genet 2:961-8. 1993
    ..This study provides the first comprehensive analysis of the fibrillin gene and relevant information for the full characterization of Marfan syndrome mutations...
  67. ncbi Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
    S Sood
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 12:209-11. 1996
    ..an autosomal dominant disorder of the extracellular microfibril caused by defects in the gene encoding fibrillin-1, FBN1 (ref. 8)...
  68. ncbi Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1
    V Knott
    Sir William Dunn School of Pathology, Oxford, UK
    J Mol Biol 255:22-7. 1996
    ..In addition, these data provide the first direct experimental evidence that Ca2+ plays a major role in defining the interdomain linkage in multiple repeats of Ca2+ binding EGF-like domains...
  69. ncbi Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders
    A K Downing
    Department of Biochemistry University of Oxford, United Kingdom
    Cell 85:597-605. 1996
    ..We propose that the relative orientation of tandem cbEGF domains in these proteins is similar, but that in others, including Notch, pairs adopt a completely different conformation...
  70. ncbi Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues
    D P Reinhardt
    Shriners Hospital for Crippled Children, Portland, Oregon 97201, USA
    J Biol Chem 271:19489-96. 1996
    ....
  71. ncbi Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene
    E A Putnam
    Department of Internal Medicine, University of Texas Houston Medical School, 77030, USA
    Am J Med Genet 62:233-42. 1996
    ..The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein...
  72. ncbi Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations
    C Hayward
    Human Genetics Unit, Molecular Medicine Centre, University of Edinburgh, Scotland
    Hum Mutat 10:280-9. 1997
    ..Twelve of the 17 disease-causing mutations identified have not been previously described, thus raising the total number of different fibrillin-1 mutations reported to 85 in 94 unrelated cases...
  73. ncbi Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
    C Hayward
    Human Genetics Unit, Molecular Medicine Centre, University of Edinburgh, Scotland
    Hum Mutat 10:415-23. 1997
    ..Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21...
  74. ncbi Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues
    T Toyoshima
    Department of Biology, Kagawa Medical University, Kagawa, Japan
    J Histochem Cytochem 47:1049-56. 1999
    ..Localization of MAGP-36 in elastic fibers coincided with the distribution of lysyl oxidase, an enzyme that plays a pivotal role in the deposition of tropoelastin. These findings suggest that MAGP-36 may be involved in elastogenesis...
  75. ncbi Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly
    T M Trask
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 275:24400-6. 2000
    ..These results suggest that fibrillin plays an important role in elastic fiber assembly by binding tropoelastin and perhaps facilitating side chain alignment for efficient cross-linking...
  76. ncbi Fibrillin-1, a calcium binding protein of extracellular matrix
    P A Handford
    Division of Molecular and Cellular Biochemistry, Department of Biochemistry, University of Oxford, South Parks Road, OX1 3QU, Oxford, UK
    Biochim Biophys Acta 1498:84-90. 2000
    ..Mutations in the human fibrillin-1 gene (FBN-1) cause the connective tissue disease Marfan syndrome and related disorders, which are characterised by defects in ..
  77. ncbi Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly
    K Tiedemann
    Universitat zu Lubeck, Institut fur Medizinische Molekularbiologie, Ratzeburger Allee 160, D 23538 Lubeck, Germany
    J Biol Chem 276:36035-42. 2001
    ..These studies suggest that binding of fibrillin-1 to proteoglycan-associated heparan sulfate chains is an important step in the assembly of microfibrils...
  78. ncbi Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
    B Loeys
    Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    Arch Intern Med 161:2447-54. 2001
    ..is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1). Affected patients are at risk for aortic dissection and/or severe ocular and orthopedic problems...
  79. ncbi Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1
    Xuemei Yuan
    Department of Biochemistry, University of Oxford, UK
    J Mol Biol 316:113-25. 2002
    ..Flexibility of the TB-cbEGF linkage is likely to contribute to the biomechanical properties of fibrillin-rich connective tissue microfibrils, and may play a role in the microfibril assembly process...
  80. ncbi Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
    Gabor Matyas
    University Children s Hospital, Division of Metabolism and Molecular Pediatrics, Zurich, Switzerland
    Hum Mutat 19:443-56. 2002
    Mutations in the human fibrillin 1 gene (FBN1) cause the Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Knowledge about FBN1 mutations is important for early diagnosis, management, and genetic counseling...
  81. ncbi Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
    Peter N Robinson
    Institute of Medical Genetics, Department of General Pediatrics, Charite University Hospital, Berlin, Germany
    Hum Mutat 20:153-61. 2002
    ..Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at least 337 mainly unique mutations have been published to date...
  82. 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...
  83. ncbi Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1
    Rachel S Smallridge
    Divisions of Structural Biology, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, United Kingdom
    J Biol Chem 278:12199-206. 2003
    ..These results provide important insight into the potential consequences of MFS-associated mutations for the assembly and biomechanical properties of connective tissue microfibrils...
  84. ncbi Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
    Sarah Hutchinson
    Department of Biochemistry, University of Oxford, Oxford, UK
    Hum Mol Genet 12:2269-76. 2003
    b>FBN1 mutations cause Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue...
  85. ncbi Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy
    Andrew Biggin
    Marfan Research Group, The Children s Hospital at Westmead, NSW, Australia
    Hum Mutat 23:99. 2004
    ..Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS...
  86. ncbi Ectopia lentis phenotypes and the FBN1 gene
    Lesley C Ades
    Marfan Research Group, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
    Am J Med Genet A 126:284-9. 2004
    ..gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the "MASS" phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid ..
  87. pmc Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization
    Stephen S J Lee
    The Henry Wellcome Building of Genomic Medicine, Roosevelt Drive, Oxford OX3 7BN, United Kingdom
    Structure 12:717-29. 2004
    ..In light of our data, we propose a novel model for the assembly of the fibrillin microfibril and a mechanism to explain its extensibility...
  88. ncbi Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1
    Tillman Vollbrandt
    Department of Medical Molecular Biology of the University of Lübeck, D 23538 Luebeck, Germany
    J Biol Chem 279:32924-31. 2004
    ....
  89. ncbi Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients
    Tomomi Uyeda
    Department of Pediatrics, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8563, Japan
    J Hum Genet 49:404-7. 2004
    ..Allelic variations in the gene for fibrillin-1 ( FBN1) have been shown to cause MFS...
  90. ncbi Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
    B Loeys
    Ghent University Hospital, Center for Medical Genetics, Belgium
    Hum Mutat 24:140-6. 2004
    In order to estimate the contribution of mutations at the fibrillin-1 locus (FBN1) to classical Marfan syndrome (MFS) and to study possible phenotypic differences between patients with an FBN1 mutation vs...
  91. 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
    Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1)...
  92. ncbi Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1
    Ji Young Suk
    Division of Molecular and Cellular Biochemistry, Department of Biochemistry, University of Oxford, United Kingdom
    J Biol Chem 279:51258-65. 2004
    ..This proposed structural heterogeneity may underlie the observed differences in stability and cellular trafficking of proteins containing such changes...
  93. ncbi Homotypic fibrillin-1 interactions in microfibril assembly
    Andrew Marson
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom
    J Biol Chem 280:5013-21. 2005
    ..Microfibril-associated glycoprotein-1 inhibited N- to C-terminal interactions but not homotypic N-terminal interactions. These fibrillin-1 interactions are likely to regulate pericellular fibrillin-1 microfibril assembly...
  94. ncbi Ca2+-dependent interface formation in fibrillin-1
    Sacha A Jensen
    Division of Molecular and Cellular Biochemistry, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, United Kingdom
    J Biol Chem 280:14076-84. 2005
    ..These data highlight the versatile role of the cbEGF domain in fine tuning the regional flexibility of proteins and provide new constraints for the organization of fibrillin-1 within 10-12-nm microfibrils of the extracellular matrix...
  95. pmc Fibulin-5 interacts with fibrillin-1 molecules and microfibrils
    Lyle J Freeman
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Biochem J 388:1-5. 2005
    ..Fibulin-5 may provide a link between tropoelastin and microfibrils in the pericellular space during elastic fibre assembly...
  96. ncbi Fibrillin-1 interactions with heparin. Implications for microfibril and elastic fiber assembly
    Stuart A Cain
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom
    J Biol Chem 280:30526-37. 2005
    ..By regulating these key interactions, heparin can profoundly influence microfibril and elastic fiber assembly...
  97. ncbi Coacervation is promoted by molecular interactions between the PF2 segment of fibrillin-1 and the domain 4 region of tropoelastin
    Adam W Clarke
    School of Molecular and Microbial Biosciences G08, University of Sydney, Sydney, New South Wales, 2006, Australia
    Biochemistry 44:10271-81. 2005
    ..and domain 16 of fibrillin-1 were discovered through a novel combination of transglutaminase cross-linking and mass spectroscopy, with contact sites at residues K38 of tropoelastin and Q669 of fibrillin-1...
  98. ncbi Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes
    Haruya Sakai
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 140:1719-25. 2006
    In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study...
  99. pmc Nanostructure of fibrillin-1 reveals compact conformation of EGF arrays and mechanism for extensibility
    Clair Baldock
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, Michael Smith Building, University of Manchester, Greater Manchester M13 9PT, UK
    Proc Natl Acad Sci U S A 103:11922-7. 2006
    ..Together, these data have enabled the generation of an improved model for microfibril organization and a previously undescribed mechanism for microfibril extensibility...
  100. ncbi Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain
    Kieran T Mellody
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom
    J Biol Chem 281:31854-62. 2006
    ..The profound effects of all four mutations on fragment conformation suggest that they contribute to the pathogenesis of Marfan syndrome by disrupting protein folding and its assembly into fibrillin-rich microfibrils...
  101. ncbi Effects of fibrillin-1 degradation on microfibril ultrastructure
    Chiu Liang Kuo
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 282:4007-20. 2007
    ..This model further suggests that the N-terminal half of fibrillin-1 is asymmetrically exposed in the outer filaments, whereas the C-terminal half of fibrillin-1 is present in the interior of the microfibril...

Research Grants142 found, 100 shown here

  1. Thomas A Wadden; Fiscal Year: 2014
    ..e., body mass index = 40 kg/m2)...
  2. Catalytic Antibody-Based Vaccine For Weight Loss
    AMANDA LEE GARNER; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Nearly 1 billion people worldwide are overweight or obese (body mass index, BMI, = 25-<30 and >30 kg/m2, respectively)...
  3. Middle School Physical Activity Intervention for Girls
    LORRAINE BRENDA ROBBINS; Fiscal Year: 2010
    ..The 10-year NHLBI Growth and Health Study showed that increases in girls'body mass index (BMI) and adiposity were related to a decrease in moderate to vigorous physical activity (MVPA)...
  4. Hypothalamic Deep Brain Stimulation for Morbid Obesity:Development of a Pig Model
    William P Melega; Fiscal Year: 2010
    ..and dietary patterns remain critical factors for modulating long term weight control of obese individuals (body mass index, BMI >30), but surgical interventions are often needed to treat morbid obesity (clinically severe, BMI >..
  5. MOLECULAR MECHANISMS AND MODULATION OF GLIAL ACTIVATION
    Linda Van Eldik; Fiscal Year: 2009
    ..The proportion of children exceeding the 95lh and 85vhpercentiles for body mass index (BMI) is among the greatest in Mexican-Americans...
  6. Contingency Management for Promoting Weight Loss in University Students
    Danielle Barry; Fiscal Year: 2010
    ..Seventy participants with a body mass index (BMI) of 27.0-34...
  7. Epidemiology of asthma: risk and prognosis in a cohort from birth to adolescence
    Syed Hasan Arshad; Fiscal Year: 2010
    ..with clinical markers as outcomes, we will determine the impact of pubertal factors, obesity-related factors (body mass index, serum leptin levels, genotypes for leptin and leptin receptor), and environmental risk factors (including, ..
  8. Epidemiologic Studies of Type 2 Diabetes in Normal Weight Adults
    MERCEDES RENEE CARNETHON; Fiscal Year: 2010
    ..g., type 2 diabetes [T2DM], hypertriglyceridemia, hypertension) in persons with normal body mass index (BMI)...
  9. A Randomized Controlled Trial of a Novel Weight Loss Intervention for Obesity
    Edie M Goldbacher; Fiscal Year: 2010
    Over 30% of Americans are obese (body mass index [BMI] of 30 and above) and, as a result, they are at increased risk for a variety of serious obesity-related conditions such as type 2 diabetes, hypertension, sleep apnea and some types of ..
  10. A Prospective Study of Adiposity and Subclinical Coronary Artery Disease
    CHRISTINA LYNN WASSEL; Fiscal Year: 2010
    ..Current methods for assessing obesity focus on either nonspecific measures of overall body weight (i.e. body mass index) or the extent of abdominal ("central") adiposity...
  11. Effective treatment of sleep apnea in prediabetes to reduce cardiometabolic risk
    Esra Tasali; Fiscal Year: 2010
    ..association between OSA and insulin resistance, glucose intolerance and the risk of diabetes, independently of body mass index...
  12. BIOMEDICAL (BASIC)
    Manuela Uda; Fiscal Year: 2009
    ..Traits of special interest comprise a range of cardiovascular risk factors, Obesity/ Body Mass Index, blood test values including levels of proteins involved in Immunology and Inflammation, height, and facets ..
  13. Chronic stress mediates fat-related changes in insulin signaling and gut motility
    CHARALABOS contact POTHOULAKIS; Fiscal Year: 2010
    ..Furthermore, changes in body fat observed in obesity, or changes in body mass index (as observed in patients suffering from functional gastrointestinal disorders) have been associated with ..
  14. Biopsychosocial determinants of weight gain in Black first-year college women
    Jennifer Webb; Fiscal Year: 2010
    ..e. a body mass index (BMI) >30.0 kg/m2] are mirrored in the college student population 2...
  15. Aging and meal timing interact to exaggerate weight gain
    Deanna Marie Arble; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): About 59 million American adults are classified as obese, with a body mass index (BMI) greater than 30 kg/m2. Serious cardiometabolic health threats linked to obesity (e.g...
  16. Examining the Dynamic Relationship between Motor Competence and Physical Activity
    JACQUELINE DAWN GOODWAY; Fiscal Year: 2010
    ..amp;Welk, 2005);and e) body composition using percent body fat (as measured by skinfolds) and estimated by body mass index...
  17. Extending Sleep in Obese Adults to Promote Weight Loss
    Ann E Rogers; Fiscal Year: 2010
    ..epidemiologic studies have revealed a dose-dependant relationship between reduced sleep duration and increased body mass index (BMI)...
  18. Bariatric Surgery's Return on Investment for Veterans and VHA
    Matthew L Maciejewski; Fiscal Year: 2013
    ..adults, including 165,000 veterans who use Veterans Affairs (VA) medical facilities, have class III obesity [body mass index (BMI)e40 kg/m 2]...
  19. Catherine M Kotz; Fiscal Year: 2015
    ..as they project to brain areas involved in arousal and activity and loss of brain orexin activity increases body mass index...
  20. Maternal obesity depresses essential fatty acid transport in the placenta
    PERRIE F O'TIERNEY-GINN; Fiscal Year: 2012
    ..One in five women who deliver in the United States is obese (body mass index (BMI) of >30 kg/m2)...
  21. Weight management for improved pregnancy outcomes
    Victor J Stevens; Fiscal Year: 2012
    ..More than 1/3 of women in the U.S. are now starting their pregnancies with a body mass index or 30 or greater, a condition that was unusual to rare 50 years ago...
  22. Pharmacogenetics of obesity and endocannabinergic modulation (POEM)
    Russell A Wilke; Fiscal Year: 2012
    ..test tagSNPs in each of these candidate eCB/CB1 signaling genes for association with 12 quantitative traits: body mass index (BMI), waist circumference, hip circumference, waist/hip ratio (WHR), fasting glucose, insulin, insulin/..
  23. METABOLICALLY NORMAL AND ABNORMAL OBESITY
    Samuel Klein; Fiscal Year: 2012
    ..in liver, muscle and adipose tissue and increased VLDL-triglyceride [VLDL-TG] secretion rate), independent of body mass index (BMI), percent body fat, and visceral fat mass...
  24. Noninvasive Measurement of UCP1 in Brown Adipose Tissue
    Joel K Yisraeli; Fiscal Year: 2012
    ..to the World Health Organization, over 1 billion adults (~15% of the world population) are either overweight (body mass index (BMI) >25) or obese (BMI>30) and more than 150 million adults have diabetes, most of which is type 2 ..
  25. The Effect of Behavioral and Physiological Factors on Obesity Risk in Children
    Karen B Dorsey; Fiscal Year: 2012
    ..Study participants will be non-obese 7 - to 9- year old children with a body mass index above the 50th percentile for age and gender in order to identify early clinical indicators of increased risk ..
  26. Endogenous G-Protein Coupled Receptor Antagonists
    Carrie Haskell-Luevano; Fiscal Year: 2012
    ..Obesity (body mass index >25) afflicts millions of people in the United States and other countries, and is a major risk factor for ..
  27. The Down Syndrome Growing Up Study
    Babette S Zemel; Fiscal Year: 2012
    ..g., hypothyroidism, hydrocephalus) in a timely manner. Weight-for-length in infants and body mass index (BMI) in older children and adolescents are also important screening tools for nutritional status assessment ..
  28. BIOMEDICAL (BASIC)
    Manuela Uda; Fiscal Year: 2011
    ..Traits of special interest comprise a range of cardiovascular risk factors, Obesity/ Body Mass Index, blood test values including levels of proteins involved in Immunology and Inflammation, height, and facets ..
  29. Proinflammatory Biomarkers and Post-Breast CancerLymphedema
    Mei Rosemary Fu; Fiscal Year: 2012
    ..Recent research has revealed that inflammation-infection and higher body mass index (BMI) are the main predictors of LE besides treatment-related risk...
  30. Obesity, Marital Transitions, and Economic Outcomes
    AUDREY L LIGHT; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): The proposed study will investigate the effects of body mass index (BMI) on a range of individual economic outcomes...
  31. A randomized trial of bariatric surgery for the treatment of sleep apnea
    Sanjay R Patel; Fiscal Year: 2013
    ..We will recruit 80 patients with severe OSA and morbid obesity (body mass index, BMI, of 35-40 kg/m2) from two large clinical sleep programs that together care for a wide spectrum and ..
  32. Susan S Smyth; Fiscal Year: 2014
    ..PUBLIC HEALTH RELEVANCE: Project Narrative More than 44 million Americans are obese, as defined by body mass index (BMI) of >30 kg/m2...
  33. Is HIV-associated lipodystrophy a risk factor for cirrhosis of the liver?
    George Ioannou; Fiscal Year: 2013
    ..whether there are other important modifiers of the association between HALS and cirrhosis, including body mass index, race-ethnicity, and diabetes...
  34. Can diet- &exercise-induced weight loss improve asthma control in obese adults?
    Jun Ma; Fiscal Year: 2013
    ..We will randomize 324 patients ages 18-70 years who have suboptimally controlled, persistent asthma and a body mass index of 30.0 to 39...
  35. Michael G S Shashaty; Fiscal Year: 2016
    ..We published a study showing a strong association of body mass index (BMI) with AKI after major trauma...
  36. Jamie F Chriqui; Fiscal Year: 2014
    ..vitamin and nutrient intake, reductions in consumption of healthier beverages such as milk, and increased body mass index (BMI), risk of obesity and diabetes...
  37. Elizabeth E Hatch; Fiscal Year: 2014
    ..questionnaires that collect data on a wide range of factors including alcohol consumption, caffeine intake, body mass index, physical activity and sedentary behavior...
  38. Glenn S Gerhard; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Obesity, commonly defined as a body mass index (BMI) greater than 30 kg/m2, is associated with an increased risk for a number of metabolic derangements including type 2 diabetes mellitus (T2D), ..
  39. Epidemiology of Putative Causal Variants in the Multiethnic Cohort
    Loic Le Marchand; Fiscal Year: 2012
    ..g., body mass index/weight, waist-to-hip ratio, height) and 4) relevant disease-associated biomarkers (e.g...
  40. EDWARD ANTONIO RUIZ-NARVAEZ; Fiscal Year: 2016
    ..Because the FTO gene, the gene most strongly associated with fat mass and obesity in AA as well as European ancestry populations, is highly expressed in the central nervous system and ..
  41. Longitudinal Changes in Pericardial Adiposity and Subclinical Atherosclerosis
    JOHN JEFFREY CARR; Fiscal Year: 2013
    ..PAT, PATepi and VAT refine the adiposity phenotype to precise organ-specific measures, compared to weight and body mass index...
  42. HEIKE MUENZBERG-GRUENING; Fiscal Year: 2016
    ..opinions on the importance of BAT function to control body weight, BAT size correlates negatively with body mass index and thus central regulators of BAT thermogenesis are potential targets for anti-obesity drugs...
  43. Ryan Olson; Fiscal Year: 2015
    ..published prospective uncontrolled trial (1) drivers made significant behavior changes and lost one unit of body mass index (M=7.8 lb [3.5 kg], p=.005, d=.68)...
  44. Cynthia Cheng; Fiscal Year: 2014
    ..At baseline and at follow-up (1.5-2 years after enrollment x 2 visits), we will assess obesity (body mass index, BMI, waist circumference, WC, abdominal skinfold thickness, AST), adipokine levels (IL-6, TNF1, PAI-1, ..
  45. HELEN OLIVIA AFFUSO; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): The assessment of body composition, particularly fat and fat free mass, is vital to understanding many health-related conditions including obesity and sarcopenia, whose very definitions depend on ..
  46. Growth and Cardiometabolic Risk Among In Utero Drug Exposed Children
    SARAH ELIZABETH MESSIAH; Fiscal Year: 2013
    ..research has three specific aims: (1) To longitudinally compare anthropometric measures (height, weight, body mass index, waist circumference, and body composition) among urban, African American children and adolescents who were ..
  47. School Food Environment and Child Well-Being
    Ashlesha Datar; Fiscal Year: 2013
    ..3. Estimate the effect of CFA on body mass index (BMI), overweight and obesity as well as health- and school related outcomes such as physical activity, ..
  48. Bette J Caan; Fiscal Year: 2016
    ..kg/m2) to have an increased risk of recurrence and/or death, most studies have found no association between body mass index (BMI) or weight gain after diagnosis and CRC prognosis...
  49. CAROL HALL PULLEN; Fiscal Year: 2014
    ..A convenience sample of 306 rural women age 50-69 with body mass index 28 to 39.9 will be randomized into 3 groups...
  50. William L Lowe; Fiscal Year: 2016
    ..The General Aim of the proposed HAPO Metabolomics Study is to use a targeted mass spectrometry- based platform to measure amino acids, acylcarnitines, and conventional metabolites and a gas ..
  51. Muscle, Fat and NK Lymphocytes in Aging
    Charles T Lutz; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): We propose that both sarcopenia (loss of muscle mass) and obesity contribute to age-related immunosenescence by negatively regulating natural killer (NK) lymphocyte number and function...
  52. Maggie Ng; Fiscal Year: 2014
    ..We have performed a genome-wide association study (GWAS) on body mass index (BMI) in 1760 African Americans derived from a type 2 diabetes (T2DM) study R01 DK663581 "Genetics of African ..
  53. Edgar G Engleman; Fiscal Year: 2015
    ..of obese non-diabetic humans have revealed that the proportion of Th1 T cells in VAT is highly correlated with body mass index and that insulin resistance is linked to a specific autoantibody signature...
  54. Calorie Restriction &Body Composition, Function, &QoL in Older Adults
    Julie L Locher; Fiscal Year: 2013
    ..its benefit in this age group and may actually be harmful for older adults-weight loss can decrease lean muscle mass and bone mineral density, and higher body mass index has been associated with lower mortality in older adults...
  55. Ajay Chawla; Fiscal Year: 2016
    ..In 2008, based on the body mass index (BMI), approximately 72.5 million adults in the United States were classified as being obese (BMI >30)...
  56. Exploring the Impact of Negative Energy Balance in Men with Prostate Cancer
    Wendy Demark-Wahnefried; Fiscal Year: 2013
    ..This study will explore and contrast changes in body mass index (BMI) observed over the 10-week study period in the intervention vs...
  57. Sheela Natesh Magge; Fiscal Year: 2016
    ..Aims: 1) To compare the relationship between body mass index and adiposity (measured by DXA), and cardiometabolic risk factors (non-HDL cholesterol, lipoprotein subclass ..
  58. Role of thermoregulatory leptin action via the DMH in body weight control
    KAVON PAUL REZAI-ZADEH; Fiscal Year: 2013
    ..Having a body mass index (BMI) >30 kg/m2 clinically defines an individual as obese and significantly increases that individual'..
  59. Ellen A Schur; Fiscal Year: 2015
    ..We will also assemble a targeted sample of 21 monozygotic and 21 same-sex dizygotic twin pairs discordant for body mass index to: 1) determine whether body fat mass is associated with brain response to visual food cues and establish ..
  60. Joshua F Baker; Fiscal Year: 2016
    ..Similarly, low BMI is associated with low lean mass. The applicant demonstrated that low lean mass and greater fat mass are associated with cortical thinning of bone ..
  61. Plasma Lipid Markers and Cancer Risk
    Lu Wang; Fiscal Year: 2013
    ..g., menopausal status, body mass index, physical activity, postmenopausal hormone use, alcohol intake, and other plasma obesity- related markers), ..
  62. Perrie F O'Tierney-Ginn; Fiscal Year: 2015
    ..One in five women who deliver in the United States is obese (body mass index (BMI) of >30 kg/m2)...
  63. Circadian disruption and bariatric surgery: impact on metabolism, clock biology
    Deanna Marie Arble; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): About 78 million American adults are classified as obese, with a body mass index greater than 30 kg/m2...
  64. Discovery metabolite profiling of the prolyl peptidases
    Alan Saghatelian; Fiscal Year: 2009
    ..Furthermore, the application of DMP to peptidases will demonstrate the generality of this approach for the future characterization of medically relevant enzymes and signaling pathways. ..
  65. Variation in M. tuberculosis in response to host selection
    Sarah Fortune; Fiscal Year: 2009
    ..In these studies, we expect to provide fundamental insights into the mechanisms and targets of diversifying immune selection in M. tuberculosis. ..
  66. Personalized Clinical Diagnostics and Beyond: Integrated Ring Resonator Arrays
    Ryan Bailey; Fiscal Year: 2009
    ..biology but would not have been possible without developments in capillary sequencing, cDNA microarrays, and mass spectrometry, amongst other enabling technologies...
  67. NIH Director's Pioneer Award
    Junying Yuan; Fiscal Year: 2009
    ..No Abstract provided ..
  68. Sogol Mostoufi-Moab; Fiscal Year: 2016
    ..Despite completion of therapy years prior, these recipients had markedly increased whole body fat mass, decreased lean mass, and substantial deficits in trabecular BMD and cortical dimensions compared with >650 ..
  69. Undercarboxylated osteocalcin, body fat, and diabetes in older adults
    Ann V Schwartz; Fiscal Year: 2010
    ..in lipids (serum triglycerides, total cholesterol, LDLc, HDLc, nonHDLc, and oxidized LDL), and in total fat mass and bone density measured by dual x-ray absorptiometry (DXA)...
  70. Novel Biomarkers in Aortic Aneurysms and Acute Aortic Dissection
    JENNIFER E contact VAN EYK; Fiscal Year: 2010
    ..MFS and validate our candidate marker in the mice as well as the GenTAC population using immunoassays and MRM, a mass spectrometry based breakthrough technology that allows for antibody-independent quantification...
  71. Ashraf Gorgey; Fiscal Year: 2016
    ..Within few weeks of injury, there are significant decrease in whole body fat-free mass (FFM), particularly lower extremity skeletal muscle mass and subsequent increase in fat mass (FM)...
  72. Mark D Peterson; Fiscal Year: 2016
    ..are not well defined, ample evidence exists to confirm that individuals with CP have lower fitness, less muscle mass, neuromuscular inefficiency, and significantly reduced functional reserve throughout the span of adulthood...
  73. PKD1-Fibrillin Interactions and TFG-b Signaling Pathways
    Terry J Watnick; Fiscal Year: 2010
    ..Marfan syndrome is caused almost exclusively by mutations in Vnefibrillin-1 (FBN1) gene whose protein product is a major component of the extracellular matrix (ECM) in a variety of organs including ..
  74. Chymase-Mediated MMP Activation in Ishemia Reperfusion Injury
    LOUIS JOSEPH DELL'ITALIA; Fiscal Year: 2013
    ..Objective 1. Determine whether I/R results in activation of novel cardiomyocyte nuclear MMPs using proteomics and mass spectrometry approaches...
  75. Suneel S Apte; Fiscal Year: 2015
    ..is a major manifestation of the Marfan syndrome (MFS), a common genetic disorder caused by dominantly inherited FBN1 mutations, of Weill-Marchesani syndrome (caused by FBN1, ADAMTS10 and ADAMTS17 mutations), and isolated ectopia ..
  76. Physiological role of PRDM16 in brown fat development and energy balance
    Patrick Seale; Fiscal Year: 2011
    ..PRDM16 binds via its two zinc finger regions to PPARy. Mass spectrometry analysis of PRDM16 transcriptional complexes showed that PRDM16 associates with p300/CBP in brown ..
  77. African Diversity and the Genetics of Human Health
    Joseph P Jarvis; Fiscal Year: 2011
    ..Traits to be analyzed include: adult height, weight, body mass index (BMI), blood glucose level, resting blood pressure, resting heart rate, taste perception (PTC, Salicin and ..
  78. AUGMENTATION OF TRABECULAR BONE BY LOW MAGNITUDE STRAIN
    Clinton T Rubin; Fiscal Year: 2012
    ..bone, representing those involved in regulating these tissues, will be correlated to alterations in bone and fat mass, and compared to baseline and age matched control. 2...
  79. FRANCESCO B RAMIREZ; Fiscal Year: 2014
    ..2) Validate the role of fibrillin-1 in coordinating MSC-supported HSC differentiation using mice with conditional Fbn1 inactivation in a specific stromal cells population...
  80. MERYL SUSAN LEBOFF; Fiscal Year: 2016
    ..In addition, observational studies show an inverse relationship between 25(OH) D levels and body mass index (BMI)...
  81. Metabolic Actions of Omega-3 Fatty Acids on Inflammation
    Michael Miller; Fiscal Year: 2013
    ..subcutaneous adipose volumes and muscle lipid accumulation by CT-scan and body composition (total and regional fat mass) by dual energy absorptiometry (DXA)...
  82. Charles W Wilkinson; Fiscal Year: 2016
    ..as well as changes in body composition including increased fat percentage, hyperlipidemia, and a decrease in muscle mass. If accurately diagnosed as a consequence of hypopituitarism, these symptoms can in most cases be successfully ..
  83. Effect of Perinatal Diet on Developmental Programming of the Skeleton
    Mary L Bouxsein; Fiscal Year: 2010
    ..perinatal diet initiates developmental programming of the skeleton that alters postnatal acquisition of bone mass, microarchitecture and strength...
  84. Andrew H Miller; Fiscal Year: 2014
    ..In addition, given the association of early life stress, increased body mass index, treatment resistance and dysregulated sleep with inflammation, these factors will also be examined...
  85. Andrew B Muir; Fiscal Year: 2014
    ..Excess food consumption however may have a limited effect on the weight and body fat mass of young progeny, owing to compensatory increases in energy expenditure (physical activity, linear growth, or ..
  86. Oleg Varlamov; Fiscal Year: 2014
    ..ADT has multiple adverse effects, including decreased quality of life, decreased lean mass and muscle strength, osteoporosis, and metabolic syndrome (MS)...
  87. ARCHITECTURAL MICROFIBRILS IN BONE PHYSIOLOGY
    Francesco Ramirez; Fiscal Year: 2009
    ..and resorption to different extents by altering the balance of local signals that control maintenance of bone mass. We therefore hypothesize that a causal relationship exists in the skeleton between the extent of the microfibril ..
  88. Madhusmita Misra; Fiscal Year: 2016
    ..of the application are based on the candidate's successfully funded R01, investigating: 1) whether low fat mass and altered levels of adipokines and fat regulated hormones determine alterations in LH pulsatility patterns in ..
  89. Qinghua Sun; Fiscal Year: 2015
    ..Magnetic resonance imaging (MRI) to evaluate body fat mass/distribution, integrated positron-emission tomography and computed tomography (microPET-CT) to evaluate the ..
  90. CLIFFORD JAMES ROSEN; Fiscal Year: 2015
    ..a B6 background, Misty, that has non-functioning BAT, low body temperature, enhanced SNS tone, low trabecular bone mass with a small periosteal envelope...
  91. Effect of Chronic Proton Pump Inhibitor Therapy on Bone Mineral Density and Bone
    Yu Xiao Yang; Fiscal Year: 2013
    ..PPI-non users frequency matched with the PPI users on race, age, sex and body mass index. The pQCT measurements will be obtained at baseline and then yearly over the next 3 years...
  92. Vitamin D and Omega-3 Fatty Acids(VITAL Trial): Effects on Fractures
    MERYL SUSAN LEBOFF; Fiscal Year: 2013
    ..a) baseline and follow up blood levels of these nutrients, (b) gender, (c) race/skin pigmentation, and (d) body mass index? Tertiary Aims: In the VITAL cohort, will Vitamin D3 and/or EPA+DHA supplementation a) reduce the risk of ..
  93. Steven K Grinspoon; Fiscal Year: 2016
    ..Data from animal and human studies demonstrate associations between aldosterone, adipose tissue mass, insulin sensitivity, and systemic and vascular inflammation, suggesting that increased aldosterone in HIV may ..
  94. Dympna Gallagher; Fiscal Year: 2015
    ..sustained over a long period of time thereby allowing for an investigation of whether adaptations of organ/tissue mass and fat redistribution occur;and REE relative to FFM at T24 continues to be lower compared to pre-surgery levels ..
  95. Multi-targeted Countermeasures against Acute and Delayed Effects of OP Exposure
    John A Butera; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Organophosphate (OP) nerve agents have been deployed as weapons of mass destruction in warfare arenas and in recent terrorist attacks;posing significant risks to military personnel, civilians, first ..
  96. ELVIRA MARIE ISGANAITIS; Fiscal Year: 2015
    ..Altered body composition with increased fat mass is a key contributor to these risks, yet accelerated postnatal adipose tissue growth following prenatal ..
  97. Simeon I Taylor; Fiscal Year: 2016
    ..Bridging genetics and clinical and translational research, a critical mass of investigators conduct basic research into the mechanisms regulating adipose tissue function...
  98. Kerri M Winters-Stone; Fiscal Year: 2014
    ..whole-body vibration (WBV) training will result in suppression of accumulation of fat, maintenance of lean muscle mass and reduced levels of risk factors as- sociated with obesity...
  99. Babette S Zemel; Fiscal Year: 2016
    ..In older children, the need to account for growth status and lean mass when interpreting bone measurements has been demonstrated, but in early childhood, these effects are unknown...
  100. Randal J Kaufman; Fiscal Year: 2014
    ..Chop deletion in insulin-resistant mice profoundly increases beta cell mass and improves beta cell function to maintain glucose-stimulated insulin secretion and prevent progression of ..
  101. Naji N Abumrad; Fiscal Year: 2015
    ..to intra-hepatic triglyceride content using magnetic resonance spectroscopy (MRS), and visceral adipose tissue mass using MRI and dual-energy x-ray absorptiometry (DXA)...