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Literature DB >> 19337313

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.

Abstract

The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-beta superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations. In this article, we review the underlying molecular, cellular and circulatory pathobiology; explore HHT clinical and genetic diagnostic strategies; present detailed considerations regarding screening for asymptomatic visceral involvement; and provide overviews of management strategies.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2009 PMID： 19337313 PMCID： PMC2986493 DOI： 10.1038/ejhg.2009.35

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

57 in total

1. British Thoracic Society guidelines for the management of suspected acute pulmonary embolism.

Authors:
Journal: Thorax Date: 2003-06 Impact factor: 9.139

2. No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia.

Authors: A Karabegovic; M Shinawi; U Cymerman; M Letarte
Journal: J Med Genet Date: 2004-11 Impact factor: 6.318

3. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Authors: R C Trembath; J R Thomson; R D Machado; N V Morgan; C Atkinson; I Winship; G Simonneau; N Galie; J E Loyd; M Humbert; W C Nichols; N W Morrell; J Berg; A Manes; J McGaughran; M Pauciulo; L Wheeler
Journal: N Engl J Med Date: 2001-08-02 Impact factor: 91.245

4. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Authors: C L Shovlin; A E Guttmacher; E Buscarini; M E Faughnan; R H Hyland; C J Westermann; A D Kjeldsen; H Plauchu
Journal: Am J Med Genet Date: 2000-03-06

5. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

Authors: J Berg; M Porteous; D Reinhardt; C Gallione; S Holloway; T Umasunthar; A Lux; W McKinnon; D Marchuk; A Guttmacher
Journal: J Med Genet Date: 2003-08 Impact factor: 6.318

Review 6. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.

Authors: M E Begbie; G M F Wallace; C L Shovlin
Journal: Postgrad Med J Date: 2003-01 Impact factor: 2.401

Review 7. Smad-dependent and Smad-independent pathways in TGF-beta family signalling.

Authors: Rik Derynck; Ying E Zhang
Journal: Nature Date: 2003-10-09 Impact factor: 49.962

8. Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling.

Authors: Marie José Goumans; Gudrun Valdimarsdottir; Susumu Itoh; Franck Lebrin; Jonas Larsson; Christine Mummery; Stefan Karlsson; Peter ten Dijke
Journal: Mol Cell Date: 2003-10 Impact factor: 17.970

9. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Authors: Carol J Gallione; Gabriela M Repetto; Eric Legius; Anil K Rustgi; Susan L Schelley; Sabine Tejpar; Grant Mitchell; Eric Drouin; Cornelius J J Westermann; Douglas A Marchuk
Journal: Lancet Date: 2004-03-13 Impact factor: 79.321

10. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome.

Authors: M G Dunlop
Journal: Gut Date: 2002-10 Impact factor: 23.059

139 in total

Review 1. Pathogenesis of vascular anomalies.

Authors: Laurence M Boon; Fanny Ballieux; Miikka Vikkula
Journal: Clin Plast Surg Date: 2011-01 Impact factor: 2.017

Review 2. Bleeding and clotting in hereditary hemorrhagic telangiectasia.

Authors: Christopher Dittus; Michael Streiff; Jack Ansell
Journal: World J Clin Cases Date: 2015-04-16 Impact factor: 1.337

Review 3. Veins and Arteries Build Hierarchical Branching Patterns Differently: Bottom-Up versus Top-Down.

Authors: Kristy Red-Horse; Arndt F Siekmann
Journal: Bioessays Date: 2019-03 Impact factor: 4.345

4. Hereditary haemorrhagic telangiectasia and genetic thrombophilia.

Authors: S Bianca; N Cutuli; M Bianca; B Barrano; A Cataliotti; C Barone; L Indaco; G Milana
Journal: Eur J Hum Genet Date: 2009-11-11 Impact factor: 4.246

5. Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment.

Authors: Francisco José Fernández-Fernández
Journal: Eur J Hum Genet Date: 2009-11-04 Impact factor: 4.246

6. Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.

Authors: Laura Boeri; Orietta Radi; Cecilia Canzonieri; Elisabetta Buscarini; Agnese Scatigno; Antonella Minelli; Federica Ornati; Fabio Pagella; Cesare Danesino; Carla Olivieri
Journal: Mol Syndromol Date: 2013-02-28

Review 7. Diversity is in my veins: role of bone morphogenetic protein signaling during venous morphogenesis in zebrafish illustrates the heterogeneity within endothelial cells.

Authors: Jun-Dae Kim; Heon-Woo Lee; Suk-Won Jin
Journal: Arterioscler Thromb Vasc Biol Date: 2014-07-24 Impact factor: 8.311