Bart L Loeys

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. 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
  2. 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
  3. doi 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
  4. 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
  5. pmc 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
  6. 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
  7. pmc 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
  8. pmc 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
  9. 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
  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

Publications20

  1. 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
    ....
  2. 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
    ....
  3. doi 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...
  4. 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...
  5. pmc 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...
  6. 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...
  7. pmc 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...
  8. pmc 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...
  9. 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
    ..This article presents the spectrum of arterial pathology that may be identified on MDCT angiography in patients with Loeys-Dietz syndrome...
  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 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...
  12. 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
    ....
  13. pmc Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy
    Lut Van Laer
    Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650 Antwerp, Edegem, Belgium
    Eur J Pediatr 172:997-1005. 2013
    ..Here, we present an overview of the clinical characteristics, the molecular findings, and the therapeutic strategies for the currently known syndromic and non-syndromic forms of thoracic aortic aneurysm/dissection. ..
  14. ncbi Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility
    Elisabeth Gillis
    Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Belgium
    Circ Res 113:327-40. 2013
    ..Third, the pathogenetic insights have delivered new treatment options that are currently being investigated in large clinical trials. ..
  15. doi 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
    ....
  16. ncbi An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?
    Elisabeth Gillis
    Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium
    Hum Mutat 35:571-4. 2014
    ..Although more than 90% of FBN1 mutations can be identified with regular molecular testing at the genomic level, deep intronic mutations will be missed and require cDNA sequencing or whole-genome sequencing. ..
  17. 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...
  18. doi 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...
  19. 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...
  20. 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...