hereditary hemorrhagic telangiectasia

Summary

Summary: An autosomal dominant vascular anomaly characterized by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (Dorland, 27th ed)

Top Publications

  1. ncbi Extensive ischemic liver necrosis complicating hereditary hemorrhagic telangiectasia: a rare indication for liver transplantation
    I Bueres Dominguez
    Liver Int 25:677-9. 2005
  2. ncbi Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
    K A McAllister
    Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710
    Nat Genet 8:345-51. 1994
  3. ncbi Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    R C Trembath
    Department of Medicine, University of Leicester, United Kingdom
    N Engl J Med 345:325-34. 2001
  4. pmc A murine model of hereditary hemorrhagic telangiectasia
    A Bourdeau
    Cancer and Blood Program, The Hospital for Sick Children and Department of Immunology, University of Toronto, Toronto, Ontario M5G 1X8, Canada
    J Clin Invest 104:1343-51. 1999
  5. ncbi A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
    Carol J Gallione
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Lancet 363:852-9. 2004
  6. ncbi Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease
    Giovanna Pasculli
    University Interdepartmental Research Centre for Rendu Osler Weber Disease, Chair of Emergency Medicine, HHT Centre, University of Bari, Italy
    Qual Life Res 13:1715-23. 2004
  7. ncbi Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan
    Miwako Dakeishi
    Department of Hygiene, Akita University School of Medicine, Akita, Japan
    Hum Mutat 19:140-8. 2002
  8. ncbi Health-related quality of life in hereditary hemorrhagic telangiectasia
    Urban W Geisthoff
    Department of Otorhinolaryngology, Hospitals of the University of the Saarland, Homburg Saar, Germany
    Otolaryngol Head Neck Surg 136:726-33; discussion 734-5. 2007
  9. pmc ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2
    Sung O Park
    Department of Physiology and Functional Genomics, University of Florida College of Medicine, Shands Cancer Center, Gainesville 32610, USA
    Blood 111:633-42. 2008
  10. pmc SMAD4 mutations found in unselected HHT patients
    C J Gallione
    Duke University Medical Center, Durham, NC 27710, USA
    J Med Genet 43:793-7. 2006

Detail Information

Publications266 found, 100 shown here

  1. ncbi Extensive ischemic liver necrosis complicating hereditary hemorrhagic telangiectasia: a rare indication for liver transplantation
    I Bueres Dominguez
    Liver Int 25:677-9. 2005
  2. ncbi Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
    K A McAllister
    Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710
    Nat Genet 8:345-51. 1994
    ..We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex...
  3. ncbi Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    R C Trembath
    Department of Medicine, University of Leicester, United Kingdom
    N Engl J Med 345:325-34. 2001
    ..Because patients with hereditary hemorrhagic telangiectasia may have lung disease that is indistinguishable from primary pulmonary hypertension, we ..
  4. pmc A murine model of hereditary hemorrhagic telangiectasia
    A Bourdeau
    Cancer and Blood Program, The Hospital for Sick Children and Department of Immunology, University of Toronto, Toronto, Ontario M5G 1X8, Canada
    J Clin Invest 104:1343-51. 1999
    ..b>Hereditary hemorrhagic telangiectasia type 1 (HHT1) is associated with mutations in the Endoglin gene, leading to haploinsufficiency...
  5. ncbi A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
    Carol J Gallione
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Lancet 363:852-9. 2004
    ..Although there are reports of patients and families with phenotypes of both disorders combined, the genetic aetiology of this association is unknown...
  6. ncbi Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease
    Giovanna Pasculli
    University Interdepartmental Research Centre for Rendu Osler Weber Disease, Chair of Emergency Medicine, HHT Centre, University of Bari, Italy
    Qual Life Res 13:1715-23. 2004
    The levels of the health-related quality of life (HR-QoL) were analyzed in hereditary hemorrhagic telangiectasia (HHT) patients...
  7. ncbi Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan
    Miwako Dakeishi
    Department of Hygiene, Akita University School of Medicine, Akita, Japan
    Hum Mutat 19:140-8. 2002
    b>Hereditary hemorrhagic telangiectasia (HHT or Rendu-Osler-Weber syndrome) is an autosomal dominant disorder characterized by aberrant vascular development...
  8. ncbi Health-related quality of life in hereditary hemorrhagic telangiectasia
    Urban W Geisthoff
    Department of Otorhinolaryngology, Hospitals of the University of the Saarland, Homburg Saar, Germany
    Otolaryngol Head Neck Surg 136:726-33; discussion 734-5. 2007
    To assess and differentiate the health-related quality of life (HR-QoL) in patients with hereditary hemorrhagic telangiectasia (HHT).
  9. pmc ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2
    Sung O Park
    Department of Physiology and Functional Genomics, University of Florida College of Medicine, Shands Cancer Center, Gainesville 32610, USA
    Blood 111:633-42. 2008
    ..Heterozygous ALK1 mutations cause hereditary hemorrhagic telangiectasia type 2 (HHT2), a multisystemic vascular disorder...
  10. pmc SMAD4 mutations found in unselected HHT patients
    C J Gallione
    Duke University Medical Center, Durham, NC 27710, USA
    J Med Genet 43:793-7. 2006
    ..Mutations in SMAD4, another TGF-beta pathway member, are seen in patients with the combined syndrome of juvenile polyposis (JP) and HHT (JP-HHT)...
  11. pmc Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia
    Sung Ok Park
    Department of Physiology and Functional Genomics, College of Medicine, University of Florida, 1376 Mowry Road, Room 456, Gainesville, Florida 32610, USA
    J Clin Invest 119:3487-96. 2009
    ..are the underlying cause of three major clinical symptoms of a genetic vascular dysplasia termed hereditary hemorrhagic telangiectasia (HHT), which is characterized by recurrent nosebleeds, mucocutaneous telangiectases, and visceral ..
  12. ncbi Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function
    M E Paquet
    Blood and Cancer Research Program, The Hospital for Sick Children and Department of Immunology, University of Toronto, 555 University Avenue, Toronto M5G 1X8, Canada
    Hum Mol Genet 10:1347-57. 2001
    b>Hereditary hemorrhagic telangiectasia type 1 (HHT1) is associated with mutations in the ENDOGLIN gene which normally codes for a polypeptide of 653 amino acids expressed at the cell surface as a dimeric glycoprotein...
  13. ncbi Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1
    C Rius
    Department of Immunology, Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas CSIC, Madrid, Spain
    Blood 92:4677-90. 1998
    ..Mutations in the endoglin gene are responsible for the hereditary hemorrhagic telangiectasia type 1 (HHT1), also known as Osler-Weber-Rendu syndrome (OMIM 187300)...
  14. ncbi Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients
    T G W Letteboer
    DBG Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, The Netherlands
    Hum Genet 116:8-16. 2005
    b>Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomal dominant disorder characterized by an aberrant vascular development...
  15. ncbi Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study
    Marco W F van Gent
    Department of Cardiology, St Antonius Hospital, Nieuwegein, The Netherlands
    Chest 138:833-9. 2010
    ..RLS) and is used to screen for pulmonary arteriovenous malformations (PAVMs) in patients with hereditary hemorrhagic telangiectasia (HHT)...
  16. ncbi Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement
    Pascal Lacombe
    Department of Radiology, Hopital Ambroise Pare, Assistance Publique Hopitaux de Paris, Université Paris Ile de France Ouest, 9 Ave Charles de Gaulle, Boulogne Billancourt Cedex, France
    Chest 135:1031-7. 2009
    To review the safety of embolization in patients affected with hereditary hemorrhagic telangiectasia (HHT) presenting with diffuse pulmonary arteriovenous malformations (PAVMs)...
  17. ncbi Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians
    Pinar Bayrak-Toydemir
    Department of Pathology, Associated Regional University Pathologists ARUP, University of Utah, 50 N Medical Drive, Salt Lake City, UT 84132, USA
    Genet Med 6:175-91. 2004
    b>Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a relatively common, underdiagnosed autosomal-dominant disorder of arteriovenous malformations and telangiectases...
  18. ncbi Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations
    Elisabetta Buscarini
    Gastroenterology Department, Maggiore Hospital, Crema, Italy
    Liver Int 26:1040-6. 2006
    To formulate recommendations about clinical management of liver involvement in hereditary hemorrhagic telangiectasia (HHT), using a formal consensus development process.
  19. ncbi Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes
    Francisco Sanz-Rodriguez
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas, Madrid, Spain
    Clin Chem 50:2003-11. 2004
    Mutations in the endoglin (ENG) or ALK1 genes are responsible for hereditary hemorrhagic telangiectasia types 1 and 2 (HHT1 and HHT2), respectively, a dominant vascular dysplasia caused by haploinsufficiency...
  20. ncbi Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2
    S A Abdalla
    Cancer and Blood Research Programme, The Hospital for Sick Children, and Department of Immunology, University of Toronto, Toronto M5G 1X8, Canada
    Hum Mol Genet 9:1227-37. 2000
    ..a type I receptor of the transforming growth factor (TGF)-beta superfamily, is the gene mutated in hereditary hemorrhagic telangiectasia type 2 (HHT2) while endoglin is mutated in HHT1...
  21. ncbi Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1
    N Pece-Barbara
    Cancer and Blood Research Programme, Hospital for Sick Children and Department of Immunology, University of Toronto, 555 University Avenue, Toronto M5G 1X8, Canada
    Hum Mol Genet 8:2171-81. 1999
    ..of the TGF-beta superfamily and is the gene mutated in the autosomal dominant vascular disorder hereditary hemorrhagic telangiectasia type 1 (HHT1)...
  22. pmc Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative
    N Pece
    Division of Immunology and Cancer Research, Hospital for Sick Children, Toronto, Canada
    J Clin Invest 100:2568-79. 1997
    ..the TGF-beta 1 receptor complex, is the target gene for the dominantly inherited vascular disorder hereditary hemorrhagic telangiectasia type 1 (HHT1)...
  23. ncbi Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia
    Junichiro Satomi
    Cancer and Blood Research Program, Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8 Canada
    Stroke 34:783-9. 2003
    b>Hereditary hemorrhagic telangiectasia type 1 (HHT1) is an autosomal dominant vascular dysplasia caused by mutations in the endoglin gene and characterized by dilated vessels and arteriovenous malformations (AVMs)...
  24. ncbi Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers
    C Sabba
    Department of Internal Medicine and Public Health, University of Bari, Bari, Italy
    J Thromb Haemost 5:1149-57. 2007
    b>Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by epistaxis, mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs), particularly in the brain (CAVMs), lungs (PAVMs), liver (HAVMs) ..
  25. pmc The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
    J N Berg
    Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 61:60-7. 1997
    ..kinase 1 gene (ALK-1) is the second locus for the autosomal dominant vascular disease hereditary hemorrhagic telangiectasia (HHT)...
  26. ncbi A role for endoglin in coupling eNOS activity and regulating vascular tone revealed in hereditary hemorrhagic telangiectasia
    Mourad Toporsian
    Cancer Research Program, Hospital for Sick Children, Toronto, Ontario, Canada
    Circ Res 96:684-92. 2005
    ..b>Hereditary hemorrhagic telangiectasia type 1 (HHT1) is a vascular disorder associated with ENDOGLIN (ENG) haploinsufficiency and ..
  27. ncbi Hereditary hemorrhagic telangiectasia: from molecular biology to patient care
    S Dupuis-Girod
    Service de Génétique et Centre de Référence National Maladies Rares, maladie de Rendu Osler, Hospices Civils de Lyon, hôpital de l Hôtel dieu, Lyon, France
    J Thromb Haemost 8:1447-56. 2010
    b>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life-threatening visceral arteriovenous ..
  28. ncbi Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development
    H M Arthur
    SMIVS, School of Biochemistry and Genetics, United Kingdom
    Dev Biol 217:42-53. 2000
    ..We anticipate that heterozygous mice will ultimately serve as a useful disease model for HHT1, as some individuals have dilated and fragile blood vessels similar to vascular malformations seen in HHT patients...
  29. ncbi A second mitral valve replacement in a patient with hereditary hemorrhagic telangiectasia (Osler's disease)
    Susumu Ishikawa
    Second Department of Surgery, Gunma University Faculty of Medicine, Gunma 371 8511, Japan
    Jpn Heart J 45:885-8. 2004
    ..Intra- and postoperative bleeding were typical of a mitral valve reoperation. This is the first reported experience, to the best of our knowledge, of a second MVR in a patient with Osler's disease...
  30. pmc A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
    S G Cole
    The Eric Bywaters Centre, Respiratory Section, National Heart and Lung Institute, Imperial College Faculty of Medicine, Hammersmith Hospital, London W12 ONN, UK
    J Med Genet 42:577-82. 2005
    ..Identification of HHT3 should further illuminate HHT pathogenic mechanisms in which aberrant transforming growth factor (TGF)-beta signalling is implicated...
  31. ncbi Hereditary hemorrhagic telangiectasia: diagnosis and management
    Scott E Olitsky
    Children s Mercy Hospitals and Clinics, Kansas City, MO 64108, USA
    Am Fam Physician 82:785-90. 2010
    b>Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons...
  32. ncbi Vascular endothelial growth factor serum levels are elevated in patients with hereditary hemorrhagic telangiectasia
    Anna Cirulli
    DIMIMP, Cattedra di Medicina d Urgenza e Pronto Soccorso, Bari, Italia
    Acta Haematol 110:29-32. 2003
    b>Hereditary hemorrhagic telangiectasia (HHT) is a genetic angiodysplasia affecting multiple organs. Two genes involved in the transduction of TGF-beta signalling are responsible for HHT...
  33. ncbi Arterial endothelium-specific activin receptor-like kinase 1 expression suggests its role in arterialization and vascular remodeling
    Tsugio Seki
    Department of Physiology and Functional Genomics, University of Florida College of Medicine, Gainesville, Fla 32610, USA
    Circ Res 93:682-9. 2003
    b>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectases, and arteriovenous malformations (AVM)...
  34. ncbi Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality
    Evelyn Torsney
    Institute of Human Genetics, International Centre for Life, University of Newcastle upon Tyne, NE1 3BZ, UK
    Circulation 107:1653-7. 2003
    ..transforming growth factor-beta signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype ..
  35. pmc Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century
    M E Begbie
    Respiratory Medicine, National Heart and Lung Institute, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK
    Postgrad Med J 79:18-24. 2003
    ..This review focuses on the evolving evidence base for HHT management, issues regarding pregnancy and prothrombotic treatments, and discusses the molecular and cellular changes that underlie this disease...
  36. ncbi Hereditary hemorrhagic telangiectasia
    Jamie McDonald
    Haematologica 90:728-32. 2005
  37. ncbi The effect of bevacizumab (Avastin) treatment on epistaxis in hereditary hemorrhagic telangiectasia
    Jana Simonds
    University of California, San Diego School of Medicine, San Diego, California, USA
    Laryngoscope 119:988-92. 2009
    Determine the effectiveness of treating epistaxis in hereditary hemorrhagic telangiectasia (HHT) with potassium titanyl phosphate (KTP) laser cautery combined with submucosal injection of 100 mg of bevacizumab.
  38. ncbi The SF-36 health status questionnaire in assessing patients with epistaxis secondary to hereditary hemorrhagic telangiectasia
    Penelope A Lennox
    Professorial Unit, The Royal National Throat Nose and Ear Hospital, London, United Kingdom
    Am J Rhinol 19:71-4. 2005
    This study assesses the ability of the short form 36 (SF-36), a validated health status survey, to measure the health of patients with epistaxis due to hereditary hemorrhagic telangiectasia (HHT).
  39. ncbi Embolization for pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia: a decision analysis
    Samir Gupta
    Departments of Medicine, University of Toronto, Toronto, ON, Canada
    Chest 136:849-58. 2009
    Although experts recommend presymptomatic coil embolotherapy for patients with hereditary hemorrhagic telangiectasia (HHT) who have pulmonary arteriovenous malformations (PAVMs), this approach has not been studied prospectively and is ..
  40. pmc Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry
    Jan Lerut
    Liver Transplant Unit, University Hospital St Luc, Brussels, Belgium
    Ann Surg 244:854-62; discussion 862-4. 2006
    b>Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a rare disease characterized by the presence of arteriovenous malformations. Hepatic involvement can lead to life-threatening conditions.
  41. ncbi Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis
    Sander van den Driesche
    Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Utrecht, The Netherlands
    Cardiovasc Res 58:20-31. 2003
    b>Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder in humans which has been mapped to two genes, endoglin and activin receptor-like kinase-1 (ALK-1) both of which mediate signaling by transforming growth factor beta ..
  42. ncbi Hereditary hemorrhagic telangiectasia: a rare cause of severe anemia
    José Wellington Alves dos Santos
    Pulmonology Department, Santa Maria University Hospital, Federal University of Santa Maria, Santa Maria, RS, Brazil
    J Bras Pneumol 33:109-12. 2007
    b>Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which arteriovenous communications are typically seen in the skin, mucosal surfaces, lungs, brain and gastrointestinal tract...
  43. ncbi An epistaxis severity score for hereditary hemorrhagic telangiectasia
    Jeffrey B Hoag
    Department of Medicine, Drexel University College of Medicine, Philadelphia, Pennsylvania 19102, USA
    Laryngoscope 120:838-43. 2010
    b>Hereditary hemorrhagic telangiectasia (HHT)-related epistaxis leads to alterations in social functioning and quality of life. Although more than 95% experience epistaxis, there is considerable variability of severity...
  44. ncbi Hereditary hemorrhagic telangiectasia associated with pulmonary arteriovenous malformations presenting as hemothorax
    Muzaffer Elmali
    Department of Radiology, Faculty of Medicine, Ondokuz Mayis University Samsun, Turkey
    J Thorac Imaging 23:295-7. 2008
    ..The patient had a family history of hereditary hemorrhagic telangiectasia. Thorax computed tomographic angiography demonstrated high-density left pleural effusion, and 3 ..
  45. ncbi Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents
    Benedikt J Folz
    Department of Otolaryngology and Head and Neck Surgery, Philipps University of Marburg, Deutschhausstrasse 3, 35037 Marburg, Germany
    Eur Arch Otorhinolaryngol 263:53-61. 2006
    The medical literature provides little information on manifestations of hereditary hemorrhagic telangiectasia (HHT) in children...
  46. ncbi Clinical phenotypes, ALK1 gene mutation and level of related plasma proteins in Chinese hereditary hemorrhagic telangiectasia
    Guang Sen Zhang
    Division of Hematology, Institute of Molecular Hematology, The Second Xiang Ya Hospital, Central South University, Changsha 410011, China
    Chin Med J (Engl) 117:808-12. 2004
    ..The level of related plasma proteins (transforming growth factor beta and thrombomodulin) were also analyzed...
  47. ncbi Treatment of high output cardiac failure by flow-adapted hepatic artery banding (FHAB) in patients with hereditary hemorrhagic telangiectasia
    A Koscielny
    Department of Surgery, University of Bonn, Sigmund Freud Strasse 25, 53125 Bonn, Germany
    J Gastrointest Surg 12:872-6. 2008
    ....
  48. ncbi Growth and regression of arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia. Case report
    Rose Du
    Department of Neurological Surgery, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    J Neurosurg 106:470-7. 2007
    ..Patients with hereditary hemorrhagic telangiectasia (HHT) have a genetic propensity to form AVMs...
  49. ncbi Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia
    Justine H Cohen
    Department of Medicine, Division of Respiratory Medicine, St Michael s Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 137:153-60. 2005
    ....
  50. ncbi Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study
    M Ingrosso
    Dept of Organ Transplantation, Gastroenterology Section, University of Bari, Bari, Italy
    Endoscopy 36:1074-9. 2004
    b>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder leading to telangiectases and arteriovenous malformations of the skin, mucosa, and viscera...
  51. ncbi Endovascular treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia
    K F Layton
    Mayo Clinic, Department of Radiology, Rochester, MN, USA
    AJNR Am J Neuroradiol 28:885-8. 2007
    The treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia can be very challenging...
  52. ncbi Effects of VEGF on phenotypic severity in children with hereditary hemorrhagic telangiectasia
    Paola Giordano
    Department of Biomedicine of Evolutionary Age daggerInternal Medicine and Public Health, HHT Inter Departmental Centre, University of Bari, Bari, Italy
    J Pediatr Hematol Oncol 31:577-82. 2009
    ..growth factor (VEGF) and transforming growth factor (TGF)-beta1 serum levels in children with hereditary hemorrhagic telangiectasia (HHT) type 1 and type 2 and to correlate them to the presence of arteriovenous malformations (AVMs)..
  53. ncbi Fatal hypoxic hepatitis in a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber's disease)
    J Henrion
    Unité d hépatogastroentérologie, Hopital de Jolimont, Haine Saint Paul, B 7100, Belgium
    Acta Gastroenterol Belg 73:61-4. 2010
    ..We report a case of hypoxic hepatitis in which hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber's disease) constituted this underlying condition and gastrointestinal ..
  54. ncbi Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience
    Meir Mei-Zahav
    Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada
    Arch Pediatr Adolesc Med 160:596-601. 2006
    To assess the clinical and genetic characteristics of symptomatic children with hereditary hemorrhagic telangiectasia (HHT).
  55. ncbi Percutaneous embolization on hereditary hemorrhagic telangiectasia patients with severe epistaxis
    S J Braak
    Department of Radiology, St Antonius Hospital, Nieuwegein, The Netherlands
    Rhinology 47:166-71. 2009
    To evaluate the results of embolization in patients with hereditary hemorrhagic telangiectasia (HHT) because of severe epistaxis.
  56. ncbi Hepatic artery embolization for treatment of patients with hereditary hemorrhagic telangiectasia and symptomatic hepatic vascular malformations
    Ajay Chavan
    Department of Diagnostic Radiology, Hannover Medical School, Hannover, Germany
    Eur Radiol 14:2079-85. 2004
    At present there is no established therapy for treating patients with hereditary hemorrhagic telangiectasia (HHT) and symptomatic hepatic involvement...
  57. ncbi Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations
    G A Jessurun
    Department of Internal Medicine, St Elisabeth Hospital, , Netherlands Antilles
    Clin Neurol Neurosurg 95:193-8. 1993
    ..The mean age of presentation was 35 years. In 6 patients cerebral AVMs were associated with hereditary hemorrhagic telangiectasia (HHT); 4 of these patients had multiple AVMs...
  58. ncbi Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
    C J Gallione
    Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Hum Mutat 11:286-94. 1998
    b>Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT...
  59. ncbi The effect of treatment for epistaxis secondary to hereditary hemorrhagic telangiectasia
    Anne E Hitchings
    Professorial Unit, Royal National Throat Nose and Ear Hospital, London, United Kingdom
    Am J Rhinol 19:75-8. 2005
    Epistaxis is the most common symptom in patients with hereditary hemorrhagic telangiectasia. Different treatment options have been described but with little reference to their effect on quality of life or disease severity.
  60. ncbi Management of epistaxis in hereditary hemorrhagic telangiectasia by Nd:YAG laser and quality of life assessment using the HR-QoL questionnaire
    Ilias Karapantzos
    Department of Otorhinolaryngology, Demokritous University of Thrace, Ioakim Kaviri 6, 68100, Alexandroupoli, Greece
    Eur Arch Otorhinolaryngol 262:830-3. 2005
    The purpose of this study was to describe the results of Nd:YAG laser application in hereditary hemorrhagic telangiectasia (HHT) patients and to measure the Health-Related Quality of Life (HR-QoL) in patients with HHT before and after Nd:..
  61. ncbi Hormonal and antihormonal therapy for epistaxis in hereditary hemorrhagic telangiectasia
    John J Jameson
    Department of Surgery, Caritas St Elizabeth s Medical Center of Boston and Tufts University School of Medicine, Boston, Massachusetts, USA
    Laryngoscope 114:705-9. 2004
    Objectives were to assess available information on hormonal therapy for bleeding in hereditary hemorrhagic telangiectasia (HHT), to determine whether there is a role for hormonal therapy as an initial therapeutic option, and to report ..
  62. pmc Imaging of hereditary hemorrhagic telangiectasia
    Marie France Carette
    Radiology Department, AP HP Tenon Hospital, 4 rue de la Chine, 75020, Paris, France
    Cardiovasc Intervent Radiol 32:745-57. 2009
    ..is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT)...
  63. ncbi Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement
    Amato Antonio Stabile Ianora
    Department of Radiology and HHT Centre, University Hospital, Policlinico of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy
    Radiology 230:250-9. 2004
    To describe findings obtained with multi-detector row helical computed tomography (CT) of the liver in patients with hereditary hemorrhagic telangiectasia.
  64. ncbi The utility of bipolar electrocautery in hereditary hemorrhagic telangiectasia
    Bobak A Ghaheri
    Oregon Health and Science University, Portland, Oregon, USA
    Otolaryngol Head Neck Surg 134:1006-9. 2006
    The surgical treatment of epistaxis associated with hereditary hemorrhagic telangiectasia (HHT) is varied. Laser therapy is often inadequate for larger complex lesions...
  65. ncbi Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients
    Gaetan Lesca
    Service de Génétique Moléculaire et Clinique, Hopital Edouard Herriot, Universite de Lyon, Universite Lyon 1, 5 Place d Arsonval, Lyon, France
    Eur J Hum Genet 16:742-9. 2008
    b>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by widespread arteriovenous malformations and caused by mutations in two major genes: ENG and ACVRL1...
  66. ncbi Long-term complications of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia
    Corinna G Levine
    Section of Otolaryngology Head and Neck Surgery, Yale University School of Medicine, New Haven, CT 06520 8041, USA
    Otolaryngol Head Neck Surg 138:721-4. 2008
    ..has been recommended as the treatment of choice for life-threatening epistaxis in patients with hereditary hemorrhagic telangiectasia. This study evaluates the complications of septal dermoplasty in the management of transfusion-..
  67. ncbi Hepatic vascular malformations in hereditary hemorrhagic telangiectasia
    Sakib Karim Khalid
    Section of Digestive Diseases, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Semin Liver Dis 28:247-58. 2008
    b>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder that can involve the liver diffusely in the form of vascular malformations ranging from small telangiectases to discrete arteriovenous malformations...
  68. ncbi Spontaneous adult-onset pulmonary arterial hypertension attributable to increased endothelial oxidative stress in a murine model of hereditary hemorrhagic telangiectasia
    Mourad Toporsian
    Beth Israel Deaconess Medical Center, Department of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, Center for Vascular Biology Research, 99 Brookline Avenue, RN 233, Boston, MA 02115, USA
    Arterioscler Thromb Vasc Biol 30:509-17. 2010
    ..protein receptors and changes in nitric oxide(*) (NO(*)) bioavailability are associated with hereditary hemorrhagic telangiectasia and some forms of pulmonary arterial hypertension...
  69. pmc Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia
    Seung Tae Lee
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    J Korean Med Sci 24:69-76. 2009
    b>Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that is characterized by abnormal communication between the arteries and veins in the skin, mucosa, and various organs...
  70. ncbi Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: a single-center study
    Sophie Dupuis-Girod
    Service de Génétique et Centre de Référence pour la Maladie de Rendu Osler, Lyon, France
    Liver Transpl 16:340-7. 2010
    Hepatic involvement occurs in up to 74% of patients with hereditary hemorrhagic telangiectasia (HHT) and is characterized by a spectrum of arteriovenous malformations...
  71. ncbi Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening
    E Buscarini
    Gastroenterology Department, Ospedale Maggiore, Crema, Italy
    Ultraschall Med 25:348-55. 2004
    ..studies, the prevalence of hepatic vascular malformations (VMs) in a large Italian family with hereditary hemorrhagic telangiectasia (HHT) was examined by Doppler ultrasonography (US) as screening technique, and the relevant ..
  72. ncbi Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: echo-color-Doppler vs multislice computed tomography study
    Paolo Buonamico
    Unit of Internal Medicine, Department of Internal Medicine and Public Health, Interdepartmental HHT Centre, University of Bari Policlinico, Piazza Giulio Cesare 11, Bari, Italy
    J Hepatol 48:811-20. 2008
    Hepatic arterio-venous malformations (HAVMs) have been found in 74% of hereditary hemorrhagic telangiectasia (HHT) patients with multislice CT (MSCT)...
  73. ncbi High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients
    Claudia Schulte
    Department of Otolaryngology, University of Tubingen, Tubingen, Germany
    Hum Mutat 25:595. 2005
    Morbus Osler or HHT (hereditary hemorrhagic telangiectasia) is a disorder of the fibrovascular tissue that is inherited in an autosomal dominant way with frequency rates between 1:2,500 and 1:40,000...
  74. ncbi Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia
    Franck Lebrin
    Institut National de la Santé et de la Recherche Médicale U833, College de France, Paris, France
    Nat Med 16:420-8. 2010
    b>Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder characterized by vascular malformations...
  75. pmc Bone morphogenetic protein-9 is a circulating vascular quiescence factor
    Laurent David
    Institut National de la Sante et de la Recherche Medicale, U878, Grenoble, France
    Circ Res 102:914-22. 2008
    ..Heterozygotes with mutations in the ALK1 gene develop hereditary hemorrhagic telangiectasia type 2 (HHT2)...
  76. ncbi Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia
    Oscar Llorca
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas CSIC, Ramiro de Maetzu 9, 28040 Madrid, Spain
    J Mol Biol 365:694-705. 2007
    ..cells whose haploinsufficiency is responsible for the dominant vascular dysplasia known as hereditary hemorrhagic telangiectasia (HHT)...
  77. ncbi Liver involvement in hereditary hemorrhagic telangiectasia (HHT)
    Guadalupe Garcia-Tsao
    Department of Internal Medicine, Section of Digestive Diseases, Yale University School of Medicine and VA CT Healthcare System, 333 Cedar Street 1080 LMP, P O Box 208019, New Haven, CT 06520, USA
    J Hepatol 46:499-507. 2007
    Liver involvement in hereditary hemorrhagic telangiectasia (HHT) consists of extensive intrahepatic vascular malformations associated with blood shunting (arteriovenous, arterioportal and/or portovenous)...
  78. pmc Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease
    S A Abdalla
    Department of Laboratory Medicine and Pathobiology, St Michael s Hospital, Toronto, Canada
    J Med Genet 43:97-110. 2006
    ..Current knowledge on the genetics of HHT is summarised, including the pathways that link the genes responsible for HHT and the potential mechanisms underlying the pathogenesis of the disease...
  79. pmc Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia
    Ana Fontalba
    Centro de Investigaciones Biologicas, CSIC, Ramiro de Maeztu, 9, Madrid 28040, Spain
    BMC Med Genet 9:75. 2008
    b>Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder characterised mainly by mutations in the Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes.
  80. ncbi Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia
    A D Kjeldsen
    Department of Otorhinolaryngology, Svendborg Hospital, Denmark
    Chest 116:432-9. 1999
    b>Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs)...
  81. ncbi Topical estrogens combined with argon plasma coagulation in the management of epistaxis in hereditary hemorrhagic telangiectasia
    Wolfgang Bergler
    From the Department of Otolaryngology Head and Neck Surgery, University Hospital Mannheim, Mannheim, Germany
    Ann Otol Rhinol Laryngol 111:222-8. 2002
    The aim of this study was to assess the value of topically applied estrogens in patients with hereditary hemorrhagic telangiectasia. Twenty-six patients with this disorder were treated with argon plasma coagulation and randomized into 2 ..
  82. ncbi [Hyperintense basal ganglia on T1-weighted images in Rendu-Osler-Weber disease]
    Marie France Carette
    Presse Med 36:883-4. 2007
  83. ncbi Update on molecular diagnosis of hereditary hemorrhagic telangiectasia
    Jennifer Richards-Yutz
    Genetic Diagnostic Laboratory, Department of Genetics, School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    Hum Genet 128:61-77. 2010
    b>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant, vascular disease hallmarked by the development of arteriovenous malformations (AVMs)...
  84. ncbi A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12
    D W Johnson
    Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Genome Res 5:21-8. 1995
    b>Hereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber (ORW) disease is an autosomal dominant vascular dysplasia...
  85. pmc Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
    R E Harrison
    Division of Medical Genetics, University of Leicester, Leicester, UK
    J Med Genet 40:865-71. 2003
    ..Heterozygous mutations of the type II receptor BMPR2 underlie familial primary pulmonary hypertension...
  86. ncbi Use of the microdebrider in selective excision of hereditary hemorrhagic telangiectasia: a new approach
    Michael Bublik
    Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136 1002, USA
    Otolaryngol Head Neck Surg 137:157-8. 2007
  87. ncbi Endoglin-mediated vascular remodeling: mechanisms underlying hereditary hemorrhagic telangiectasia
    Franck Lebrin
    Laboratory of Embryonic and Pathological Angiogenesis, College de France, Paris, France
    Trends Cardiovasc Med 18:25-32. 2008
    ..We highlight where the controversies on underlying molecular mechanisms currently lie and indicate areas of present research focus...
  88. ncbi Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease
    E Buscarini
    Gastroenterology Department, Maggiore Hospital, Via Macallè 1, 26013 Crema, Italy
    Dig Liver Dis 37:635-45. 2005
    ..Doppler sonography can detect and stage hepatic vascular malformations in subjects with hereditary haemorrhagic telangiectasia; according to Doppler sonographic grading, appropriate advice for follow-up and/or therapy can be given...
  89. ncbi Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound
    Elisabetta Buscarini
    Gastroenterology Department, Maggiore Hospital, Crema, Italy
    Ultrasound Med Biol 34:718-25. 2008
    ..26). Study results indicate that Doppler US diagnosis of liver VMs in HHT has a high degree of agreement among ultrasonographers; a moderate agreement was found regarding severity staging...
  90. ncbi Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences
    Rodica Gincul
    Hospices Civils de Lyon, Hepatogastroenterology Department, Centre Hospitalier Lyon Sud, Pierre Benite, France
    Hepatology 48:1570-6. 2008
    b>Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease characterized by cutaneous, mucosal, and sometimes visceral arteriovenous malformations...
  91. ncbi High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia
    Elisabetta Buscarini
    Gastroenterology Department, Ospedale Maggiore, Crema, Italy
    Ultrasound Med Biol 30:1089-97. 2004
    ..nodular hyperplasia (FNH) has been suggested; this study was aimed to evaluate in families with hereditary hemorrhagic telangiectasia (HHT) the prevalence of FNH, relating it to presence and stage of hepatic vascular malformations (..
  92. ncbi Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
    D W Johnson
    Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nat Genet 13:189-95. 1996
    ..We report three mutations in the coding sequence of the ALK1 gene in those families which show linkage of the ORW phenotype to chromosome 12. Our data suggest a critical role for ALK1 in the control of blood vessel development or repair...
  93. ncbi Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients
    Gaetan Lesca
    Service de Génétique Moléculaire et Médicale, Hopital Edouard Herriot, Lyon, France
    Hum Mutat 27:598. 2006
    b>Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations and resulting from mutations in two major genes: ENG and ACVRL1...
  94. pmc Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
    T G W Letteboer
    J Med Genet 43:371-7. 2006
    ..HHT1 has a distinct, more severe phenotype than HHT2. There is a difference in the presence of symptoms between men and women. With these data, genetic counselling can be given more accurately when the family mutation is known...
  95. pmc Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
    J Berg
    Department of Medical and Molecular Genetics, GKT School of Medicine, King s College London, 8th Floor, Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    J Med Genet 40:585-90. 2003
    ..Causative mutations for HHT have been identified in two genes, endoglin and ALK1, which encode proteins involved in serine-threonine kinase signalling in the endothelial cell...
  96. ncbi A rare and misdiagnosed bleeding disorder: hereditary hemorrhagic telangiectasia
    C Sabba
    Clinica Medica A Murri, University Interdepartmental HHT Center, DIMIMP University of Bari, Bari, Italy
    J Thromb Haemost 3:2201-10. 2005
  97. ncbi Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures
    Haneen Sadick
    Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Mannheim, Mannheim, Germany
    Wien Klin Wochenschr 118:72-80. 2006
    b>Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue...
  98. ncbi New classification of nasal vasculature patterns in hereditary hemorrhagic telangiectasia
    Elizabeth J Mahoney
    Department of Otolaryngology, Boston University Medical Center, Boston, Massachusetts, USA
    Am J Rhinol 20:87-90. 2006
    b>Hereditary hemorrhagic telangiectasia (HHT) is a disorder characterized by the triad of recurrent epistaxis, telangiectasia, and a family history of the disease...
  99. ncbi A pulmonary right-to-left shunt in patients with hereditary hemorrhagic telangiectasia is associated with an increased prevalence of migraine
    Martijn C Post
    Department of Cardiology, St Antonius Hospital, 3435 CM Nieuwegein, Netherlands
    Chest 128:2485-9. 2005
    b>Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominant vascular dysplasia with a high prevalence of pulmonary arteriovenous malformation (PAVM)...
  100. ncbi Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations
    L E Wehner
    Institute of Human Genetics, Georg August University, Gottingen, Germary
    Clin Genet 69:239-45. 2006
    ..An analysis of the genotype-phenotype correlation is consistent with a more common frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective...
  101. pmc Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway
    Africa Fernandez-L
    Centro de Investigaciones Biologicas CSIC, Ramiro de Maeztu, 9, Madrid 28040, Spain
    Clin Med Res 4:66-78. 2006
    b>Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia...

Research Grants18

  1. Mechanism and therapy for arteriovenous malformation
    Suk Paul Oh; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, characterized by spontaneous recurrent nosebleeds, mucocutaneous telangiectases, and arterio- venous ..
  2. TGFBM2 in Development and Disease
    Rosemary J Akhurst; Fiscal Year: 2012
    ..birth defects, including Loeys- Dietz Syndrome, Marfan Syndrome, Camurati-Engelmann disease and Hereditary Hemorrhagic Telangiectasia, all caused by mutations in individual TGFbeta pathway genes...
  3. Penn Center for ELSI Research in Emerging Genetic Technologies in Health Care
    Reed E Pyeritz; Fiscal Year: 2012
    ..care providers and women of reproductive age;2) To utilize the Penn Center of Excellence for Hereditary Hemorrhagic Telangiectasia to explore the impact of presymptomatic molecular testing on the economics of caring for people at ..
  4. Endoglin Regulates Endothelial Survival and Capillary Tube Stability
    Nam Y Lee; Fiscal Year: 2013
    ..in endothelial cells is supported by their mutation resulting in the human vascular disease, hereditary hemorrhagic telangiectasia (HHT1 and 2), embryonic lethal phenotype due to defects in angiogenesis when either endoglin or ..
  5. Molecular Mechanisms of Matrix GLA Protein (MGP)
    KRISTINA I BOSTROM; Fiscal Year: 2013
    ..Aim 2 will determine the contribution of MGP and Cv2 to the formation of AVMs in a mouse model of hereditary hemorrhagic telangiectasia (HHT)...
  6. Smad2 and Smooth Muscle Differentiation from Neural Crest Stem Cells
    Shiyou Chen; Fiscal Year: 2013
    ..The results will shed new light on the pathogenesis of congenital heart disease and a number of genetic diseases such as hereditary hemorrhagic telangiectasia type 1 and type 2, which may ultimately lead to therapeutic intervention.
  7. Vascular Malformations of the CNS
    DEAN YAW LI; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): This is a renewal of a previous grant that focused on hereditary hemorrhagic telangiectasia (HHT)...
  8. Functional analysis of Tgfbm3 locus in vascular development and disease
    Rosemary 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 involved in the etiology of ..
  9. Molecular basis for vascular malformations
    Dean Li; Fiscal Year: 2006
    ..of function mutations is A1k1 is responsible for another autosomal dominant vascular dysplasia, hereditary hemorrhagic telangiectasia (HM I)...
  10. Alk1 regulation of embryonic angiogenesis
    Beth L Roman; Fiscal Year: 2010
    ..and heterozygous inactivation results in a potentially lethal human vascular dysplasia, hereditary hemorrhagic telangiectasia type 2 (HHT2)...
  11. Novel Roles for beta-arrestin2 in TGF-beta mediated Endoglin Signaling
    NAM LEE; Fiscal Year: 2009
    ..mutations in or loss of these receptors have serious biological implications, as evidenced by the hereditary hemorrhagic telangiectasia (HHT) and the lethal phenotype observed in knockout mice lacking ALK-1 or endoglin, respectively...
  12. GENETIC ASPECTS OF PULMONARY HYPERTENSION
    Jane Morse; Fiscal Year: 2007
    ..Our clinical resources include 100 FPPH families and 5 hereditary hemorrhagic telangiectasia (HHT1) families, four have mutations in activin-like receptor 1 (ALK-1), another gene associated ..
  13. Identification of genetics modifiers of heart diease
    Douglas A Marchuk; Fiscal Year: 2010
    ..Identification and characterization of these genetic modifiers will increase our understanding of the molecular mechanisms underlying the development and progression of cardiomyopathy and heart failure. ..
  14. PLASMA MEMBRANE REGIONS OF CELLS GROWN AS MONOLAYERS
    Bruce Jacobson; Fiscal Year: 2002
    ..4. Ascertain how the metabolites of the three lipoxygenases might regulate the production of diacylglycerol which is essential for PKC activation in the cell spreading stage of adhesion. ..
  15. GENETICS OF HEREDITARY HEMORRHAGIC TELANGIECTASIA
    Douglas Marchuk; Fiscal Year: 2004
    ..to investigate the molecular and cell biologic mechanisms of angiogenesis in the context of hereditary hemorrhagic telangiectasia (HHT)...
  16. Gene Discovery for Cerebral Cavernous Malformations
    Douglas Marchuk; Fiscal Year: 2006
    ..abstract_text> ..
  17. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007
    ..fs20\par \par } ..
  18. CARDIAC VALVE CALCIFICATION
    Emile Mohler; Fiscal Year: 2003
    ..2. To investigate mechanisms of valve calcification using a cell culture model of calcification. 3. To examine therapeutic strategies to inhibit valve calcification with a bisphosphonate in cell culture. ..