Bart L Loeys

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. ncbi Aneurysm syndromes caused by mutations in the TGF-beta receptor
    Bart L Loeys
    McKusick Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, and the Kennedy Krieger Institute, Baltimore, USA
    N Engl J Med 355:788-98. 2006
  2. ncbi The revised Ghent nosology for the Marfan syndrome
    Bart L Loeys
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Gent, Belgium
    J Med Genet 47:476-85. 2010
  3. ncbi 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
  4. ncbi Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
    Mark E Lindsay
    Helen B Taussig Children s Heart Center, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 44:922-7. 2012
  5. ncbi 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
  6. ncbi A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    Bart L Loeys
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 37:275-81. 2005
  7. ncbi Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
    Marjolijn Renard
    Center for Medical Genetics, University Hospital Ghent, De Pintelaan 185, Ghent, Belgium
    Eur J Hum Genet 18:895-901. 2010
  8. ncbi Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
    Alexander J Doyle
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 44:1249-54. 2012
  9. ncbi Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease
    Jason A Williams
    Division of Cardiac Surgery, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA
    Ann Thorac Surg 83:S757-63; discussion S785-90. 2007
  10. ncbi Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
    Bert L Callewaert
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Hum Mutat 30:334-41. 2009

Collaborators

Detail Information

Publications17

  1. ncbi Aneurysm syndromes caused by mutations in the TGF-beta receptor
    Bart L Loeys
    McKusick Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, and the Kennedy Krieger Institute, Baltimore, USA
    N Engl J Med 355:788-98. 2006
    ....
  2. ncbi The revised Ghent nosology for the Marfan syndrome
    Bart L Loeys
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Gent, Belgium
    J Med Genet 47:476-85. 2010
    ..We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines...
  3. ncbi 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...
  4. ncbi Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
    Mark E Lindsay
    Helen B Taussig Children s Heart Center, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 44:922-7. 2012
    ..Taken together, these data support the hypothesis that compensatory autocrine and/or paracrine events contribute to the pathogenesis of TGF-β-mediated vasculopathies...
  5. ncbi 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...
  6. ncbi A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    Bart L Loeys
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 37:275-81. 2005
    ....
  7. ncbi Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
    Marjolijn Renard
    Center for Medical Genetics, University Hospital Ghent, De Pintelaan 185, Ghent, Belgium
    Eur J Hum Genet 18:895-901. 2010
    ..This confirms the important role of fibulin-4 in vascular elastic fiber assembly. Furthermore, we provide the first evidence for the involvement of altered TGFbeta signaling in the pathogenesis of FBLN4 mutations in humans...
  8. ncbi Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
    Alexander J Doyle
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 44:1249-54. 2012
    ..These data support the conclusions that increased TGF-β signaling is the mechanism underlying SGS and that high signaling contributes to multiple syndromic presentations of aortic aneurysm...
  9. ncbi Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease
    Jason A Williams
    Division of Cardiac Surgery, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA
    Ann Thorac Surg 83:S757-63; discussion S785-90. 2007
    ..Our surgical experience with LDS was reviewed to assess outcomes and develop guidelines for management of this aggressive disease...
  10. ncbi Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
    Bert L Callewaert
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Hum Mutat 30:334-41. 2009
    ..Finally, the FBN2-negative patients in this cohort were clinically indistinguishable from all published FBN2-positive patients harboring a FBN2 mutation, suggesting locus heterogeneity...
  11. ncbi 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
    ....
  12. ncbi Loeys-Dietz syndrome: MDCT angiography findings
    Pamela T Johnson
    Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins School of Medicine, 601 N Caroline St, Rm 3251, Baltimore, MD 21287, USA
    AJR Am J Roentgenol 189:W29-35. 2007
    ..Serial imaging assessment by radiologists is an important component in the management of these patients...
  13. ncbi Marfan syndrome: from gene to therapy
    Nikhita Bolar
    Laboratory for Aneurysmal Disease Research, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium
    Curr Opin Pediatr 24:498-504. 2012
    ....
  14. ncbi Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
    Olivier M Vanakker
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Invest Dermatol 127:581-7. 2007
    ..These findings all support the hypothesis that the disorder indeed represents a separate clinical and genetic entity, the molecular background of which remains to be unraveled...
  15. ncbi Musculoskeletal findings of Loeys-Dietz syndrome
    Gurkan Erkula
    Department of Orthopaedic Surgery, Johns Hopkins Bayview Medical Center, 4940 Eastern Avenue, Baltimore, MD 21224 2780, USA
    J Bone Joint Surg Am 92:1876-83. 2010
    ..It is characterized by aggressive aneurysm formation and vascular tortuosity. We report the musculoskeletal demographic, clinical, and imaging findings of this syndrome to aid in its diagnosis and treatment...
  16. ncbi Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene
    Stacie B Peddy
    Department of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Pediatrics 117:1830-3. 2006
    ..She successfully received an orthotopic heart transplant 172 days after VAD implantation...
  17. ncbi Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
    Qirui Hu
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 15:3379-86. 2006
    ..These findings support the hypothesis that fibulin-5 is necessary for elastic fiber formation by facilitating the deposition of elastin onto a microfibrillar scaffold via direct molecular interactions...