Genomes and Genes
Summary: A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast." It is inherited as an autosomal dominant trait.
Publications333 found, 100 shown here
- The revised Ghent nosology for the Marfan syndromeBart L Loeys
Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Gent, Belgium
J Med Genet 47:476-85. 2010The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management ..
- TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndromeCatherine Boileau
Institut National de la Santé et de la Recherche Médicale INSERM U698, Hopital Bichat, Paris, France
Nat Genet 44:916-21. 2012....
- Heterozygous TGFBR2 mutations in Marfan syndromeTakeshi Mizuguchi
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Nat Genet 36:855-60. 2004b>Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref. 1)...
- Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonismJennifer P Habashi
Howard Hughes Medical Institute and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 332:361-5. 2011..show that loss of AT2 expression accelerates the aberrant growth and rupture of the aorta in a mouse model of Marfan syndrome (MFS)...
- Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome miceTammy 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. 2011Transforming growth factor-β (TGFβ) signaling drives aneurysm progression in multiple disorders, including Marfan syndrome (MFS), and therapies that inhibit this signaling cascade are in clinical trials...
- Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndromeKim M Summers
The Roslin Institute, University of Edinburgh, Midlothian, UK
Eur J Hum Genet 18:1209-15. 2010Mutations in the human FBN1 gene cause Marfan syndrome, a complex disease affecting connective tissues but with a highly variable phenotype...
- Cardiovascular manifestations in men and women carrying a FBN1 mutationDelphine Detaint
AP HP, Hopital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F 75018, France
Eur Heart J 31:2223-9. 2010In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease...
- Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndromeEnid R Neptune
Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 33:407-11. 2003b>Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of extracellular microfibrils...
- Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndromeJennifer P Habashi
Howard Hughes Medical Institute and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 312:117-21. 2006Aortic aneurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder caused by mutations in the gene that encodes fibrillin-1...
- The new Ghent criteria for Marfan syndrome: what do they change?L Faivre
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Dijon, France
Clin Genet 81:433-42. 2012The diagnosis of Marfan syndrome (MFS) is challenging and international criteria have been proposed...
- TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndromeConnie M Ng
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J Clin Invest 114:1586-92. 2004..MVP can occur in the context of genetic syndromes, including Marfan syndrome (MFS), an autosomal-dominant connective tissue disorder caused by mutations in fibrillin-1...
- Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndromeRonald V Lacro
Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
Am Heart J 154:624-31. 2007..including aortic root dilation, dissection, and rupture, is the leading cause of mortality in patients with Marfan syndrome (MFS)...
- Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin geneH C Dietz
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
Nature 352:337-9. 1991b>Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant with high penetrance, but has great clinical variability...
- The molecular genetics of Marfan syndrome and related disordersP N Robinson
Institute of Medical Genetics, Charite University Hospital, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
J Med Genet 43:769-87. 2006b>Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (..
- Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genesB Lee
Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029
Nature 352:330-4. 1991b>Marfan syndrome (MFS), one of the most common genetic disorders of connective tissue, is characterized by skeletal, cardiovascular and ocular abnormalities...
- Primary impairment of left ventricular function in Marfan syndromeJulie F De Backer
Department of Medical Genetics, Ghent University Hospital, Gent Belgium
Int J Cardiol 112:353-8. 2006Cardiovascular involvement in Marfan syndrome is mainly characterized by progressive dilatation of the proximal aorta. Whether left ventricular dysfunction is present in these patients is not clear at present.
- Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1Scott A LeMaire
Division of Cardiothoracic Surgery, Michael E DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA
Nat Genet 43:996-1000. 2011..FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21...
- Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeS Sheikhzadeh
Centre of Cardiology and Cardiovascular Surgery, University Hospital Eppendorf, Hamburg, Germany
Clin Genet 82:240-7. 2012b>Marfan syndrome is considered a clinical diagnosis...
- Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathwayDelphine Gomez
INSERM, U698, Paris, F 75018, France
J Pathol 218:131-42. 2009..In conclusion, this study highlights independent dysregulations of TGF-beta retention and Smad2 signalling in syndromic and non-syndromic aneurysms of the ascending aorta...
- Evaluation of left ventricular dimensions and function in Marfan's syndrome without significant valvular regurgitationLilian J Meijboom
Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
Am J Cardiol 95:795-7. 2005..Some involvement of the left ventricle may have been present in a small group of these patients. No patients, however, fulfilled the criteria for dilated cardiomyopathy...
- A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese familyJiamei Dong
Department of Ophthalmology, Peking University Third Hospital, Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, P R China
Mol Vis 18:81-6. 2012Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
- Overexpression of transforming growth factor-beta is associated with increased hyaluronan content and impairment of repair in Marfan syndrome aortic aneurysmMaria Nataatmadja
Department of Medicine, The University of Queensland, Prince Charles Hospital, Brisbane 4032, Australia
Circulation 114:I371-7. 2006b>Marfan syndrome (MFS), a condition caused by fibrillin-1 gene mutation is associated with aortic aneurysm that shows elastic lamellae disruption, accumulation of glycosaminoglycans, and vascular smooth muscle cell (VSMC) apoptosis with ..
- In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre
Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
J Med Genet 40:34-6. 2003..This study strongly suggests that AD WMS and Marfan syndrome are allelic conditions at the fibrillin-1 locus and adds to the remarkable clinical heterogeneity of type I ..
- The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan SyndromeKathrin Roll
Hamburg Center for Health Economics, University of Hamburg, Hamburg, Germany
Health Policy 105:119-27. 2012..influence of the regional availability of health care resources (measured by physician densities, number of health care centers) on health care quality (measured by delay in diagnosis), based on data for the rare disease Marfan Syndrome.
- Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysmsRumin He
Department of Internal Medicine, The University of Texas Medical School at Houston, Houston, Texas 77030, USA
J Thorac Cardiovasc Surg 136:922-9, 929.e1. 2008This study sought to characterize the inflammatory infiltrate in ascending thoracic aortic aneurysm in patients with Marfan syndrome, familial thoracic aortic aneurysm, or nonfamilial thoracic aortic aneurysm.
- The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndromeMeike Rybczynski
Centre of Cardiology and Cardiovascular Surgery, The University Hospital Eppendorf, Hamburg, Germany
Am J Med Genet A 146:3157-66. 2008The diagnosis of Marfan syndrome (MFS) is based on evaluating a large number of clinical criteria...
- Marfan syndrome and its disorder in periodontal tissuesNaoto Suda
Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial Neck Reconstruction, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
J Exp Zool B Mol Dev Evol 312:503-9. 2009..FBN1 encoding fibrillin-1 is a responsible gene for Marfan syndrome type 1 (MIM #154700), characterized by increased height and long limbs, ectopia lentis, and cardiovascular ..
- Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9Ada W Y Chung
Child and Family Research Institute, Department of Anesthesiology, Pharmacology and Therapeutics, University of British Columbia, Vancouver, Canada
Circ Res 102:e73-85. 2008Beta-blockers, eg, atenolol, are the cornerstone therapy for thoracic aortic aneurysm (TAA) in patients with Marfan syndrome; however, continued aortic dilatation has been reported...
- miR-29b participates in early aneurysm development in Marfan syndromeDenis R Merk
Department of Cardiothoracic Surgery, 300 Pasteur Drive, Falk Cardiovascular Research Building, Stanford University, Stanford, CA 94305, USA
Circ Res 110:312-24. 2012b>Marfan syndrome (MFS) is a systemic connective tissue disorder notable for the development of aortic root aneurysms and the subsequent life-threatening complications of aortic dissection and rupture...
- Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndromeT E Bunton
Department of Comparative Medicine, Institute for Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Circ Res 88:37-43. 2001b>Marfan syndrome is associated with early death due to aortic aneurysm. The condition is caused by mutations in the gene (FBN1) encoding fibrillin-1, a major constituent of extracellular microfibrils...
- Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathiesEloisa 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. 2005b>Marfan 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...
- Manufacturing and placing a bespoke support for the Marfan aortic root: description of the method and technical results and status at one year for the first ten patientsJohn Pepper
Royal Brompton Hospital, London, UK
Interact Cardiovasc Thorac Surg 10:360-5. 2010Fatal aortic dissection commonly occurs in Marfan syndrome. Prevention currently relies on elective replacement of the aortic root...
- The molecular genetics of Marfan syndrome and related microfibrillopathiesP 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. 2000Mutations 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 ..
- Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan?Peter Matt
Howard Hughes Medical Institute and Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA
J Thorac Cardiovasc Surg 135:389-94. 2008b>Marfan syndrome is a systemic connective tissue disorder caused by mutations in the fibrillin-1 gene...
- Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragmentGao Guo
Institute of Medical Genetics, Charite Universitatsmedizin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
Circulation 114:1855-62. 2006The primary cause of early death in untreated Marfan syndrome (MFS) patients is aortic dilatation and dissection.
- Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysmsChristiane Pilop
Departments of Nephrology and Hypertension, University Hospital of Bern, Bern, Switzerland
Circulation 120:983-91. 2009b>Marfan syndrome (MFS) is a heritable disorder of connective tissue, affecting principally skeletal, ocular, and cardiovascular systems. The most life-threatening manifestations are aortic aneurysm and dissection...
- Neurovascular complications of marfan syndrome: a retrospective, hospital-based studyRobert J Wityk
Department of Neurology, Johns Hopkins Hospital, Baltimore, MD, USA
Stroke 33:680-4. 2002Small case series have associated Marfan syndrome with cerebral and spinal ischemia or hemorrhage. However, there has been no investigation of the frequency and etiology of neurovascular disorders in a large series of Marfan patients.
- Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyL Faivre
Centre de Genetique, Centre Hospitalier Universitaire, Dijon, France
Am J Hum Genet 81:454-66. 2007Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes...
- Novel measurement of relative aortic size predicts rupture of thoracic aortic aneurysmsRyan R Davies
Section of Cardiothoracic Surgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Ann Thorac Surg 81:169-77. 2006..Cumulative and yearly risks of rupture, dissection, and death before operative repair increase with increasing aortic size, but previous work has not addressed the impact of relative aortic size on complication rates...
- Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trialAnna A Ahimastos
Alfred and Baker Medical Unit, Baker Heart Research Institute, Central Melbourne, Victoria, Australia
JAMA 298:1539-47. 2007Aortic stiffness is increased in Marfan syndrome contributing to aortic dilatation and rupture, the major cause of premature death in this population. Angiotensin-converting enzyme inhibitors have been shown to reduce arterial stiffness.
- Circulating transforming growth factor-beta in Marfan syndromePeter Matt
602 Mason F Lord Bldg, Center Tower, Johns Hopkins University, Baltimore, MD 21239, USA
Circulation 120:526-32. 2009b>Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 gene and dysregulation of transforming growth factor-beta (TGF-beta)...
- Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disordersA K Downing
Department of Biochemistry University of Oxford, United Kingdom
Cell 85:597-605. 1996..cb) epidermal growth factor-like (EGF) domains from human fibrillin-1, the protein defective in the Marfan syndrome, is described...
- Angiotensin II blockade and aortic-root dilation in Marfan's syndromeBenjamin S Brooke
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
N Engl J Med 358:2787-95. 2008..We evaluated the clinical response to ARBs in pediatric patients with Marfan's syndrome who had severe aortic-root enlargement...
- Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death?Anji T Yetman
University of Arkansas for Medical Sciences, Arkansas Children s Hospital, Little Rock, USA
J Am Coll Cardiol 41:329-32. 2003We sought to assess outcomes in a series of young patients with Marfan syndrome and to define the prevalence of ventricular arrhythmias in this patient population.
- Flow-sensitive four-dimensional magnetic resonance imaging: flow patterns in ascending aortic aneurysmsErnst Weigang
Department of Cardiothoracic and Vascular Surgery, University Hospital Mainz, Mainz, Germany
Eur J Cardiothorac Surg 34:11-6. 2008....
- Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in marfan syndrome and bicuspid aortic valve thoracic aortic aneurysmMaria Nataatmadja
Department of Medicine, University of Queensland, Prince Charles Hospital, Brisbane, Australia
Circulation 108:II329-34. 2003b>Marfan syndrome (MS) is a genetic disorder caused by a mutation in the fibrillin gene FBN1. Bicuspid aortic valve (BAV) is a congenital heart malformation of unknown cause...
- Medical management of Marfan syndromeMartin G Keane
Departments of Medicine, University of Pennsylvania, Philadelphia, PA 19104 4283, USA
Circulation 117:2802-13. 2008
- Oral manifestations of patients with Marfan syndrome: a case-control studyP J A De Coster
Ghent University, Ghent, Belgium
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 93:564-72. 2002The purpose of this study was to conduct a complete analysis of the oral abnormalities of patients with Marfan syndrome.
- Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up studyDaniela Baumgartner
Department of Pediatric Cardiology, Innsbruck Medical University, Innsbruck, Austria
J Thorac Cardiovasc Surg 132:811-9. 2006Aortic complications determine the life expectancy of most patients with Marfan syndrome. To find out whether there is heterogenous aortic involvement among patients and, if there is, to characterize aortic patterns and response to long-..
- MMP-2 regulates Erk1/2 phosphorylation and aortic dilatation in Marfan syndromeWanfen Xiong
Department of Surgery, University of Nebraska Medical Center, Omaha, NE 68198 7690, USA
Circ Res 110:e92-e101. 2012Aneurysm and dissection of the ascending thoracic aorta are the main cardiovascular complications of Marfan syndrome (MFS) resulting in premature death...
- Inflammation aggravates disease severity in Marfan syndrome patientsTeodora Radonic
Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Centre, Amsterdam, The Netherlands
PLoS ONE 7:e32963. 2012b>Marfan syndrome (MFS) is a pleiotropic genetic disorder with major features in cardiovascular, ocular and skeletal systems, associated with large clinical variability. Numerous studies reveal an involvement of TGF-β signaling...
- Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic statesRonald D Cohn
McKusick Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA
Nat Med 13:204-10. 2007..Skeletal muscle has the ability to achieve rapid repair in response to injury or disease. Many individuals with Marfan syndrome (MFS), caused by a deficiency of extracellular fibrillin-1, exhibit myopathy and often are unable to increase ..
- Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndromeMeike Rybczynski
Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology and Angiology, University Hospital Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
Clin Cardiol 30:19-24. 2007Successful prevention of aortic complications has lead to improved survival of Marfan syndrome (MFS)...
- Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service LaboratoryRachel Howarth
Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, SP2 8BJ, UK
Genet Test 11:146-52. 2007b>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene FBN1...
- Recent molecular biological progress in Marfan syndrome and Marfan-associated disordersLing gen Gao
Department of Cardiology, Fuwai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishi Road, Beijing 100037, China
Ageing Res Rev 9:363-8. 2010b>Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance. Advances in medicine and surgery have increased the average lifespan of classically affected patients...
- MR evaluation of dural ectasia in Marfan syndrome: reassessment of the established criteria in children, adolescents, and young adultsChristian R Habermann
Department of Diagnostic and Interventional Radiology, University Hospital Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
Radiology 234:535-41. 2005To retrospectively evaluate known criteria for assessment of dural ectasia by using magnetic resonance (MR) imaging in children, adolescents, and young adults with and those without Marfan syndrome.
- Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding proteinGao Guo
Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
PLoS ONE 6:e20138. 2011b>Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations...
- Pregnancy-associated aortic dilatation or dissection in Japanese women with Marfan syndromeShinji Katsuragi
Department of Perinatology and Gynecology, National Cerebral and Cardiovascular Center, Suita, Japan
Circ J 75:2545-51. 2011..The purpose of the present study was to investigate risk factors for aortic dilatation or dissection in pregnant Japanese women with Marfan syndrome.
- Fibrillln mutations in Marfan syndrome and related phenotypesF Ramirez
Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029, USA
Curr Opin Genet Dev 6:309-15. 1996A casual association has been established between mutations in the fibrillin 1 gene and Marfan syndrome and related phenotypes. Analysis of mutations in these disease types has provided new insights into microfibril assembly and function...
- The translational science of Marfan syndromeGuillaume Jondeau
Centre National de Référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris 75018, France
Heart 97:1206-14. 2011b>Marfan syndrome has changed over the last few years: new diagnostic criteria have been proposed, new clinical entities recognised and life expectancy increased...
- Replacement of the aortic root in patients with Marfan's syndromeV L Gott
Division of Cardiac Surgery, Johns Hopkins Hospital, Baltimore, MD 21287 4618, USA
N Engl J Med 340:1307-13. 1999..We reviewed the results of this surgical procedure at 10 experienced surgical centers...
- Management of aortic disease in Marfan Syndrome: a decision analysisSeo Young Kim
Division of Rheumatology, Department of Medicine, University of Pennsylvania, Philadelphia 19104, USA
Arch Intern Med 165:749-55. 2005b>Marfan syndrome is a relatively common heritable disorder of connective tissue that affects numerous organ systems, but the most severe complication is aortic aneurysm and dissection...
- Marfan syndrome. Part 1: pathophysiology and diagnosisVictoria Cañadas
Instituto Cardiovascular, Hospital Clinico San Carlos, c Profesor Martín Lagos, sn, 28024 Madrid, Spain
Nat Rev Cardiol 7:256-65. 2010b>Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1...
- Mechanical assessment of elastin integrity in fibrillin-1-deficient carotid arteries: implications for Marfan syndromeJacopo Ferruzzi
Department of Biomedical Engineering, Texas A and M University, College Station, TX, USA
Cardiovasc Res 92:287-95. 2011..some aspects of ageing-related changes in the overall mechanical properties of arteries in mouse models of Marfan syndrome, we sought to assess for the first time the load-carrying capability of the elastic fibres early in maturity, ..
- Beyond the root: dilatation of the distal aorta in Marfan's syndromeP M Engelfriet
Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands
Heart 92:1238-43. 2006..To investigate dilatory changes of the aorta distal to the root in patients with Marfan's syndrome...
- Living with Marfan syndrome II. Medication adherence and physical activity modificationK F Peters
Department of Medicine, Center for Developmental and Health Genetics, Pennsylvania State University, University Park, PA 16802, USA
Clin Genet 60:283-92. 2001..the perceptions of and adherence to medication and physical activity guidelines in 174 adults with Marfan syndrome. Over 80% of those prescribed beta- and Ca2+-channel blockade reportedly adhere well to their medication ..
- Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndromeB Loeys
Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
Arch Intern Med 161:2447-54. 2001b>Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1)...
- The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiographyA Kiotsekoglou
Department of Cardiac and Vascular Sciences, St George s, University of London, Cranmer Terrace, London SW17 0RE, UK
Heart 95:1561-6. 2009Use of echocardiography has dramatically changed the way in which patients with Marfan syndrome are diagnosed, monitored and treated...
- Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' endG M Corson
Shriners Hospital for Crippled Children, Portland, Oregon 97201
Genomics 17:476-84. 1993..Since FBN1 is the gene responsible for Marfan syndrome, the information presented here will be useful in identifying new mutations and in understanding the function ..
- Augmentation index relates to progression of aortic disease in adults with Marfan syndromeKai Mortensen
Centre of Cardiology and Cardiovascular Surgery, University Hospital Eppendorf, Hamburg, Germany
Am J Hypertens 22:971-9. 2009..Moreover, APT can predict outcome in many conditions such as arterial hypertension. In this study, we test whether APT measurements relate to progression of aortic disease in Marfan syndrome (MFS).
- Surgical management of aortic root disease in Marfan syndrome: a systematic review and meta-analysisUmberto Benedetto
Department of Cardiac Surgery, University of Rome Sapienza, Policlinico S Andrea, Rome, Italy
Heart 97:955-8. 2011Surgical treatment of aortic root aneurysm in Marfan syndrome (MFS) patients.
- Identification of an FBN1 mutation in bovine Marfan syndrome-like diseaseT Hirano
Shirakawa Institute of Animal Genetics, Odakura, Nishigo, Nishi shirakawa, Fukushima, Japan
Anim Genet 43:11-7. 2012Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause Marfan syndrome (MFS)...
- Mitral valve surgery in the adult Marfan syndrome patientSunil K Bhudia
Marfan Syndrome and Connective Tissue Disorder Clinic, Department of Thoracic and Cardiovascular Surgery, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
Ann Thorac Surg 81:843-8. 2006Because mitral valve dysfunction in adults with Marfan syndrome is poorly characterized, this study compares mitral valve pathophysiology and morphology with that of myxomatous mitral disease, documents types of mitral valve operations, ..
- Long-term results of aortic valve-sparing operations in patients with Marfan syndromeTirone E David
Peter Munk Cardiac Centre of Toronto General Hospital, University Health Network and University of Toronto, Toronto, Ontario, Canada
J Thorac Cardiovasc Surg 138:859-64; discussion 863-4. 2009The appropriateness of aortic valve-sparing operations in patients with Marfan syndrome has been questioned. This study examines the long-term results of these operations in patients with Marfan syndrome.
- External aortic root support for Marfan syndrome: early clinical results in the first 20 recipients with a bespoke implantJohn Pepper
Royal Brompton Hospital London SW3 6NP, UK
J R Soc Med 103:370-5. 2010Fatal aortic dissection occurs at young age in Marfan syndrome. Prevention relies on elective replacement of the aortic root...
- Iris fixation of foldable intraocular lenses for ectopia lentis in childrenPascal Dureau
Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
J Cataract Refract Surg 32:1109-14. 2006..To describe a technique for iris fixation of acrylic intraocular lenses (IOLs) in ectopia lentis and evaluate the medium-term anatomical and functional results in children...
- Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndromeBo Meng
Department of Ophthalmology, 2nd Affiliated Hospital of Harbin Medical University, Harbin, China
Mol Vis 17:2421-7. 2011To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).
- Impaired right ventricular systolic function demonstrated by reduced atrioventricular plane displacement in adults with Marfan syndromeAnatoli Kiotsekoglou
Department of Cardiac and Vascular Sciences, St George s, University of London, Cranmer Terrace, London SW17 0RE, UK
Eur J Echocardiogr 10:295-302. 2009..Mild LV dysfunction has been demonstrated in Marfan syndrome (MFS). However, little attention has been paid to the functioning of the RV...
- Aortic root operations for Marfan syndrome: a comparison of the Bentall and valve-sparing proceduresNishant D Patel
Division of Cardiac Surgery, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Ann Thorac Surg 85:2003-10; discussion 2010-1. 2008We compared results of the Bentall procedure with valve-sparing aortic root replacement (VSRR) for aortic root aneurysm in Marfan syndrome.
- Ehlers-Danlos syndromes and Marfan syndromeBert Callewaert
Ghent University Hospital, Centre for Medical Genetics, De Pintelaan 185, B 9000 Ghent, Belgium
Best Pract Res Clin Rheumatol 22:165-89. 2008Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues...
- Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndromeKathrin Rommel
Institute of Human Genetics, Medizinische Hochschule Hannover, Hannover, Germany
Hum Mutat 26:529-39. 2005b>Marfan syndrome (MFS) is an autosomal-dominant 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...
- Fibrillin-1, a calcium binding protein of extracellular matrixP 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 the skeletal, cardiovascular and ocular systems ..
- Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre
J Med Genet 45:384-90. 2008The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology...
- Late reoperation for proximal aortic and arch complications after previous composite graft replacement in Marfan patientsTeruhisa Kazui
First Department of Surgery, Hamamatsu University School of Medicine, Handayama, Hamamatsu, Japan
Ann Thorac Surg 76:1203-7; discussion 1027-8. 2003..Marfan patients who received composite graft replacement for proximal aortic disease frequently require late reoperation. The initial surgical technique for this lesion remains controversial...
- Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndromeDelphine Detaint
Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
Arch Cardiovasc Dis 103:317-25. 2010..studies have demonstrated that blockade of the angiotensin II type 1 receptor with losartan decreases aortic damage in an animal model of Marfan syndrome (a KI mouse model with a pathogenic mutation in the gene coding for fibrillin-1).
- Ageing in Marfan syndromeA Hasan
Department of Cardiological Sciences, St George s, University of London, London, UK
Int J Clin Pract 61:1308-20. 2007b>Marfan syndrome (MFS) is a dominantly inherited connective tissue disorder caused by mutations in the fibrillin-1 gene. Past research has focused on younger patients as lifespan was known to be significantly reduced...
- Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndromeB Loeys
Ghent University Hospital, Center for Medical Genetics, Belgium
Hum Mutat 24:140-6. 2004In 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...
- Recent progress towards a molecular understanding of Marfan syndromeHarry C Dietz
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Med Genet C Semin Med Genet 139:4-9. 2005b>Marfan syndrome (MFS) is a systemic disorder of the connective tissue that is inherited as an autosomal dominant trait and which displays variable manifestations in the ocular, skeletal, and cardiovascular systems...
- Fate of coronary ostial anastomoses after the modified Bentall procedureAldo D Milano
Division of Cardiac Surgery, Cardio Thoracic Department, University of Pisa Medical School, Pisa, Italy
Ann Thorac Surg 75:1797-801; discussion 1802. 2003..Particularly the true incidence of coronary ostial complications such as stenosis, kinking or pseudoaneurysm formation needs to be assessed...
- Pregnancy in Marfan syndrome: maternal and fetal risk and recommendations for patient assessment and managementSorel Goland
Kaplan Medical Center, Rehovot, Israel
Cardiol Rev 17:253-62. 2009Pregnancy in women with the Marfan syndrome (MFS) is associated with the potential for a catastrophic and even fatal acute aortic dissection and the risk of having a child who will inherit the syndrome...
- Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine 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..we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly...
- The clinical spectrum of complete FBN1 allele deletionsYvonne Hilhorst-Hofstee
Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Eur J Hum Genet 19:247-52. 2011..Seven patients fulfilled the Ghent criteria for Marfan syndrome (MFS)...
- Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndromeMelanie D Everitt
Division of Cardiology, Intermountain West Marfan Cardiology Center, Primary Children s Medical Center, University of Utah, Salt Lake City, Utah 84113, USA
J Thorac Cardiovasc Surg 137:1327-32; discussion 1332-3. 2009..This study was undertaken to assess the frequency and outcome of cardiovascular surgery in children with Marfan or Loeys-Dietz syndrome...
- Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndromeBarry J Maron
J Am Coll Cardiol 45:1340-5. 2005
- Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defectsEliana Disabella
Molecular Diagnostics, Cardiovascular and Transplant Pathology Laboratory, Transplant Research Area, Pavia, Italy
Eur J Hum Genet 14:34-8. 2006TGF-beta-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with negative fibrillin-1 (FBN1) gene screening...
- TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndromeKrishna Kumar Singh
Institute of Human Genetics, Hannover Medical School, Hannover, Germany
Hum Mutat 27:770-7. 2006b>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder characterized by manifestations in the cardiovascular, skeletal, ocular, and other organ systems...
- Marfan syndrome: clinical diagnosis and managementJohn C S Dean
Department of Medical Genetics, NHS Grampian, Argyll House, Foresterhill, Aberdeen, AB25 2ZR, UK
Eur J Hum Genet 15:724-33. 2007b>Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2...
- Aortic dissection in pregnancy: analysis of risk factors and outcomeFranz F Immer
Department of Cardiovascular Surgery, Berne, Switzerland
Ann Thorac Surg 76:309-14. 2003..We found that aortic root enlargement (> 4cm) or an increase of aortic root size during pregnancy in patients with BAVD, and Marfan syndrome is associated with a considerable risk for the occurrence of Type A dissection.
- Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesPeter N Robinson
Institute of Medical Genetics, Department of General Pediatrics, Charite University Hospital, Berlin, Germany
Hum Mutat 20:153-61. 2002The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies...
- Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism databaseGwenaëlle Collod-Béroud
Laboratoire de Genetique Moleculaire, IURC, Montpellier, France
Hum Mutat 22:199-208. 2003..in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS)...
- The molecular pathogenesis of the Marfan syndromeP N Robinson
Institute of Medical Genetics, Department of General Pediatrics, Charite University Hospital, Berlin, Germany
Cell Mol Life Sci 58:1698-707. 2001The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a range of skeletal anomalies...
- PATHOGENESIS OF MARFAN SYNDROME AND RELATED DISORDERSLynn Sakai; Fiscal Year: 2004..Mutations in FBN1 result in the pleiotropic cardiovascular, skeletal, and ocular phenotypic features of the Marfan syndrome as well as in several of the individual phenotypic features of the Marfan syndrome in isolation, such a ..
- PKD1-Fibrillin Interactions and TFG-b Signaling PathwaysTerry J Watnick; Fiscal Year: 2010..new clues may come from the relationship between PKD and "overlap" connective tissue diseases such as Marfan syndrome (MFS) that also have a prominent vascular phenotype...
- Novel Biomarkers in Aortic Aneurysms and Acute Aortic DissectionJENNIFER E contact VAN EYK; Fiscal Year: 2010..of the aorta is caused by a multitude of mechanisms including inherited connective tissue disorders such as Marfan syndrome (MFS)...
- 2013 Elastin, Elastic Fibers &Microfibrils Gordon Research Conference &Gordon RZsolt Urban; Fiscal Year: 2013..Genetic disorders discussed in the conference include, but are not limited to Marfan syndrome, Beal's syndrome, Williams-Beuren syndrome, supravalvular aortic stenosis, Urban-Rifkin-Davis syndrome, ..
- Microfibril Fragments: Biomarkers of Aortic DiseaseLynn Y Sakai; Fiscal Year: 2010..Preliminary data indicate that this approach can identify novel biomarkers associated with Marfan syndrome (fibrillin-2 fragment 72-143) and aortic aneurysm (fibrillin-2 fragment 48-60) and can reveal signature ..
- Regulation of Periostin by TGFbeta and BMP in Heart DevelopmentThomas Doetschman; Fiscal Year: 2010..g., Marfan syndrome (MFS) and Ehlers-Danlos syndrome (EDS)), and non-syndromic valvular diseases...
- Molecular Biology of Marfan SyndromeHarry C Dietz; Fiscal Year: 2013DESCRIPTION (provided by applicant): Abstract: Marfan syndrome (MFS) is a common disorder caused by mutations in the matrix protein fibrillin-1...
- Structural microenvironment of bone marrow stem cellsFRANCESCO B RAMIREZ; Fiscal Year: 2013..Fibrillin-1 is the mutated protein in Marfan syndrome (MFS), whose pleiotropic manifestations include progressive bone loss (osteopenia)...
- PATHOGENESIS OF GLAUCOMATOUS OPTIC NERVE DAMAGEHARRY ALAN QUIGLEY; Fiscal Year: 2013..activation will be inhibited in one of the genetically altered mouse models, a phenocopy of the human Marfan syndrome, to test the linkage between scleral composition, scleral response to chronic effects of IOP elevation, and ..
- TGFBM2 in Development and DiseaseRosemary J Akhurst; Fiscal Year: 2012..Human genetics has also shown a direct involvement in several birth defects, including Loeys- Dietz Syndrome, Marfan Syndrome, Camurati-Engelmann disease and Hereditary Hemorrhagic Telangiectasia, all caused by mutations in individual ..
- Roles of SMC TGF-beta Signaling in Aortic Health and Aneurysm FormationDavid A Dichek; Fiscal Year: 2013..Aim 2 will test whether loss of SMC TGF-[unreadable] signaling in a mouse model of Marfan syndrome will prevent (as predicted by one current model) or-more likely-accelerate their aortic aneurysmal disease...
- Development Underpinnings of Acquired Aortic Aneurysm in Marfan SyndromeMark E Lindsay; Fiscal Year: 2013..Initial insight into TGF-2 signaling was discovered by the study of the Marfan syndrome (MFS), a common, autosomal dominant condition caused by mutations in the gene encoding fibrillin-1 (1)...
- Consortium for Translational Research in Marfan SyndromeFRANCESCO B RAMIREZ; Fiscal Year: 2013b>Marfan syndrome (MPS) is a common connective tissue disorder caused by mutations In flbrillln-1, the major Structural component of extracellular microfibrils...
- ARCHITECTURAL MICROFIBRILS IN BONE PHYSIOLOGYFrancesco Ramirez; Fiscal Year: 2009..to bone physiology and implicitly, to elucidate the pathological underpinning of skeletal manifestations in Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA)...
- Translational Opportunities for the Heritable Disorders of Connective TissueLynn Y Sakai; Fiscal Year: 2011..The Marfan Syndrome was the first genetic disorder to be described by McKusick as a "heritable disorder of connective tissue...
- TGFBeta Receptor Mutations in Cancer and Other DiseasesEdmund C Lattime; Fiscal Year: 2012..Moreover, treatment with selective T?R-ll kinase inhibitors reversed the transformed phenotype. In parallel, Marfan syndrome-like genetic disorders have recently been attributed to mutations of TGFBR1 or TGFBR2...
- Zonule Assembly and Ectopia LentisSuneel S Apte; Fiscal Year: 2013..Ectopia lentis, dislocation of the lens, is a major manifestation of the Marfan syndrome (MFS), a common genetic disorder caused by dominantly inherited FBN1 mutations, of Weill-Marchesani syndrome (..
- Role of TGFB signaling in muscle regeneration and various myopathic statesRonald D Cohn; Fiscal Year: 2010..for the past 18 years, and he was the first to identify mutations in fibrillin-1 gene that cause Marfan syndrome. He has a long record of successful mentorship to graduate students and young investigators funded under the ..
- Systems Biology and Connective Tissue DisordersHarry C Dietz; Fiscal Year: 2010DESCRIPTION (provided by applicant): Recent studies of mouse models of Marfan syndrome (MFS) have shown that devising a successful treatment for such a congenital disease requires an integrated and unbiased understanding of the network ..
- 27th Annual Conference of the National Marfan FoundationLynn Y Sakai; Fiscal Year: 2011..researchers, will be provided with the most up- to-date information on research, diagnosis, and treatment of Marfan syndrome and related disorders...
- 1999 GORDON CONFERENCE ON ELASTIN AND ELASTIN TISSUESFrancesco Ramirez; Fiscal Year: 1999..and dissecting aneurysm, and dermal, and dermal elastoses and progeria, as well as monogenic entities like Marfan syndrome, supravalvular aortic stenosis and cutis laxa...
- Computational Study of Fibrillins in CV MorphogenesisBRENDA RONGISH; Fiscal Year: 2004..Cardiovascular abnormalities associated with the connective tissue disorders Marfan syndrome and congenital contractural arachnodactyly have been linked genetically and biochemically to the ..
- 3RD MEETING ON HERITABLE DISORDERS OF CONNECTIVE TISSUELynn Sakai; Fiscal Year: 2000..These disorders originally included the Marfan syndrome Weill-Marchesani syndrome, the Ehlers-Danlos syndromes, cutis laxa, osteogenesis imperfecta, pseudoxanthoma ..
- COMPUTER SYSTEM FOR PATIENT DATA-BASE MANAGEMENTAndrew Schachat; Fiscal Year: 1990..glaucoma, optic neuritis, juvenile diabetes, intraocular lens implantation, retinitis pigmentosa, the Marfan syndrome and congenital esotropia. This rapid growth has simply swamped the Computer Center...
- AUTOIMMUNE AORTIC ANTIGENS IN ABDOMINAL AORTIC ANEURYSMSMARTIN TILSON; Fiscal Year: 2002..In Project 2, Dr. Devereux will study families affected by both Marfan syndrome and AAA to identify fibrillin-1 mutations and polymorphisms that predispose individuals affected by Marfan ..
- IMMUNOCHEMISTRY OF STREPTOCOCCAL MEMBRANE PROTEINSIvo van de Rijn; Fiscal Year: 1990....
- Transition to Self-management of a Chronic Genetic Disorder in AdolescentsEllen Giarelli; Fiscal Year: 2006..Key Terms: Self-management, genetic disorder, chronic disease, children, grounded theory, genetic counseling, Marfan Syndrome. This exploratory, descriptive, grounded theory investigation will answer the question: how do parents ..
- Gordon Research Conference on Elastin & Elastic FibersLynn Sakai; Fiscal Year: 2001..are mutated in the human genetic disorders supravalvular aortic stenosis and Williams Syndrome (ELN), the Marfan syndrome (FBNI), and congenital contractural arachnodactyly (FBN2)...
- MOLECULAR BASIS OF PHENOTYPE OF FBN1/FBN2 MUTATIONSDianna Milewicz; Fiscal Year: 2000..Mutations in fibrillin-1 are the cause of the Marfan syndrome, a dominantly inherited disorder characterized by both pleiotropic manifestations affecting the skeletal, ..
- 25th Annual National Marfan Foundation ConferenceHeidi Connolly; Fiscal Year: 2009DESCRIPTION (provided by applicant): The 25th Annual Conference on Marfan Syndrome and Related Disorders will take place August 6-9, 2009 at Mayo Clinic in Rochester Minnesota in collaboration with the National Marfan Foundation (NMF)...
- MAPPING GENETIC KNOWLEDGE--AN ANTHROPOLOGICAL STUDYDEBORAH HEATH; Fiscal Year: 1999..analysis of the social networks associated with four groups of heritable connective tissue disorders: 1) Marfan syndrome; 2) chondrodysplasia, 3) osteogenesis imperfecta, and 4) epidermolysis bullosa...
- HERITABLE DISEASES OF CONNECTIVE TISSUERONALD MINOR; Fiscal Year: 1991....
- Sixth International Marfan Syndrome SymposiumPeter Byers; Fiscal Year: 2001The Sixth International Marfan Syndrome Symposium will be held in Seattle, WA from August 11 -14, 2001...
- BIOCHEMICAL AND GENETIC ANALYSIS OF LTBP-1Daniel Rifkin; Fiscal Year: 2004..LTBP-1) is a 120-170 kD molecule with strong homology to fibrillins-1 and -2; the proteins defective in Marfan syndrome and Congenital Contractual Arachnodactyly...
- MOLECULAR GENETICS & CELL BIOLOGY OF MARFAN SYNDROMEJan Witkowski; Fiscal Year: 1992Recent research on Marfan Syndrome has centered on linkage analysis and on the cell biology and biochemistry of affected cells and tissues. Both approaches are producing exciting results...
- Fibrillin-1 and Pressure-induced Arterial RemodelingEmily Wilson; Fiscal Year: 2005..Specifically, we will utilize carotid arteries from fibrillin-1 (FBN-1) deficient mice, a mouse model for Marfan Syndrome (MFS), to investigate relationships between alterations in the organization of elastic lamina and pressure-..
- LTBP-2--STRUCTURAL AND REGULATORY FUNCTIONSJ Shipley; Fiscal Year: 2002..In humans, mutations in LTBP-2 are associated with a disease sharing similarities with the Marfan syndrome, characterized by skeletal and vascular abnormalities...
- Defining the Role of MAGP-2 in Microfibril AssemblyJ Shipley; Fiscal Year: 2004..extracellular microfibrils that are genetically linked to heritable disorders of elastic fibers known as the Marfan syndrome and congenital contractural arachnodactyly, respectively. MAGP-2 also binds MAGP- 1...
- The Molecular Basis of Familial Spontaneous PneumothoraxChristine Garcia; Fiscal Year: 2009..A collection of families with FSP will be established without alpha-l-antitrypsin deficiency, Marfan syndrome, or other known monogenetic disorders associated with spontaneous )neumothoraces...
- SECOND INTERNATIONAL SYMPOSIUM ON THE MARFAN SYNDROMEReed Pyeritz; Fiscal Year: 1992..application we seek primarily bloc travel support for an international scientific conference devoted to the Marfan syndrome. This condition is, in many ways, one of the prototypic heritable disorders of connective tissue (HDCT)...
- INTERNATIONAL WORKSHOP ON HUMAN CHROMOSOME 15Timothy Donlon; Fiscal Year: 1993..A new interest has developed because of recent localization of Marfan syndrome, limb-girdle muscular dystrophy, and the Prader-Willi and Angelman syndromes and has led to the isolation of ..
- CONFERENCE--FRONTIERS OF RESEARCH ON MARFAN SYNDROME ANReed Pyeritz; Fiscal Year: 1999Frontiers of Research: Marfan Syndrome and Related Disorders will be held on Friday, 9 July 1999 at the Pittsburgh Marriott City Center Hotel, in conjunction with the Annual Meeting of the National Marfan Foundation...
- 300.11-PEDI GENETIC COND- 25TH ANNUAL CONF ON MARFAN SYNDROME & RELATED DISORDERSHeidi Connolly; Fiscal Year: 2008..pdf application/pdf Tracking Number: GRANT00424580 PROJECT ABSTRACT The 25th Annual Conference on Marfan Syndrome and Related Disorders will be held August 6-9, 2009 at the Mayo Clinic in Rochester, Minnesota in ..
- Development of a Swine Model of Marfan SyndromeJorge Piedrahita; Fiscal Year: 2008..In order to enhance translational efforts to develop surgical and non-surgical methods to alleviate Marfan syndrome, a large animal model of the disease is needed...
- 2005 Elastin and Elastic Fibers Gordon ConferenceCATHERINE KIELTY; Fiscal Year: 2005..As in past years, these personal interactions will result in new collaborative studies and stimulate novel avenues of elastic fiber investigation. ..
- Skyscan 1172 ex-vivo microComputed Tomography SystemFrancesco Ramirez; Fiscal Year: 2007..Acquisition of this equipment will enable our institutions to engage in biomedical research highly relevant to pathophysiological processes and animal models of human diseases. [unreadable] [unreadable] [unreadable]..
- Genetic Basis of Aortic Aneurysms/DissectionsDianna Milewicz; Fiscal Year: 2009..Therefore, identification of the genes that predispose individuals to TAAD is critical in preventing premature deaths due to dissections. ..
- CHARACTERIZING MICROFIBRIL ABNORMALITIES IN SCLERODERMADianna Milewicz; Fiscal Year: 2003..The research proposed in this grant will determine the contribution of abnormalities in fibrillin-1-containing microfibrils to the activation of fibroblasts, which leads to the fibrosis that characterizes SSc. ..
- Induced Hypertension for Acute Ischemic StrokeRobert Wityk; Fiscal Year: 2004..An association of improved function, with reduction in the volume of mismatch, will support the proposed physiology. ..
- Role of Fibroblasts in CancerRaghu Kalluri; Fiscal Year: 2010..The role of such fibroblasts in cancer progression and metastasis is unknown. This proposal addresses the role of fibroblasts in facilitating metastasis. ..
- International Meeting--Epithelial /Mesenchymal TranitionRaghu Kalluri; Fiscal Year: 2005..abstract_text> ..
- Chromosome Analysis of Single CellsBrynn Levy; Fiscal Year: 2007..abstract_text> ..
- "The Role of HDAC3 in Cardiac Growth and Development"Lazaros Kochilas; Fiscal Year: 2007..They will also use selected molecular markers to dissect extracardiac processes relevant to cardiac development that are potentially affected in the hdac3 deficient embryos. [unreadable] [unreadable] [unreadable]..
- Genetics of the Sodium-Lithium CountertransportAbraham Aviv; Fiscal Year: 2008..abstract_text> ..
- Human Telomere GeneticsAbraham Aviv; Fiscal Year: 2008..Results will serve to define genes as determinants of telomere length. Such information would lead to new diagnostic and therapeutic approaches to treat age-related diseases. ..
- Functional analysis of Tgfbm3 locus in vascular development and diseaseRosemary J Akhurst; Fiscal Year: 2010..It is directly implicated in several birth defects, including Marfan Syndrome, Hereditary Hemorrhagic Telangiectasia (HHT), Camurati-Engelmann disease and cleft palate, as well as being ..
- Pathogenesis and Therapy of Marfan Vascular DiseaseDaniel Judge; Fiscal Year: 2007..Judge outlines a five-year plan to identify the factors responsible for the cardiovascular manifestations of Marfan syndrome, including aortic aneurysm and cardiac valve dysfunction...