Journal ArticleDOI
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Carol J. Gallione,Gabriela M. Repetto,Eric Legius,Anil K. Rustgi,Susan Schelley,Sabine Tejpar,Grant A. Mitchell,Éric Drouin,Cornelius J.J. Westermann,Douglas A. Marchuk +9 more
TLDR
Patients with juvenile polyposis who have an MADH4 mutation should be screened for the vascular lesions associated with hereditary haemorrhagic telangiectasia, especially occult arteriovenous malformations in visceral organs that may otherwise present suddenly with serious medical consequences.About:
This article is published in The Lancet.The article was published on 2004-03-13. It has received 652 citations till now. The article focuses on the topics: Juvenile polyposis syndrome & Adenomatous polyposis coli.read more
Citations
More filters
Journal ArticleDOI
Pericytes: developmental, physiological, and pathological perspectives, problems, and promises.
TL;DR: The history of investigations into pericytes, the mural cells of blood microvessels, are reviewed, emerging concepts are indicated, and problems and promise are pointed out.
Journal ArticleDOI
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Marie E. Faughnan,Valerie A. Palda,Guadalupe Garcia-Tsao,Urban W. Geisthoff,Jamie McDonald,Deborah D. Proctor,J Spears,Dale H. Brown,Elisabetta Buscarini,Mark S. Chesnutt,Vincent Cottin,Arupa Ganguly,James R. Gossage,Alan E. Guttmacher,Robert H. Hyland,Shelley J. Kennedy,Joshua R. Korzenik,J J Mager,A P Ozanne,Jay F. Piccirillo,Daniel Picus,Henri Plauchu,Mary Porteous,Reed E. Pyeritz,Douglas A. Ross,Carlo Sabbà,Karen L. Swanson,Peter B. Terry,M C Wallace,C.J.J. Westermann,Robert I. White,Lawrence H. Young,Roberto Zarrabeitia +32 more
TL;DR: The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of H HT-related complications and treatment of symptomatic disease.
Journal ArticleDOI
Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society
Steven H. Abman,Georg Hansmann,Stephen L. Archer,D. Dunbar Ivy,Ian Adatia,Wendy K. Chung,Brian D. Hanna,Erika B. Rosenzweig,J. Usha Raj,David N. Cornfield,Kurt R. Stenmark,Robin H. Steinhorn,Bernard Thébaud,Jeffrey R. Fineman,Titus Kuehne,Jeffrey A. Feinstein,Mark K. Friedberg,Michael G. Earing,Robyn J. Barst,Roberta L. Keller,John Kinsella,Mary P. Mullen,Robin R. Deterding,Thomas J. Kulik,George B. Mallory,Tilman Humpl,David L. Wessel +26 more
TL;DR: A panel of experienced clinicians and clinician-scientists was assembled to review the current literature and to make recommendations on the diagnosis, evaluation, and treatment of pediatric pulmonary hypertension.
Journal ArticleDOI
Extracellular control of TGFβ signalling in vascular development and disease
ten Dijke P,Helen M. Arthur +1 more
TL;DR: It seems that elastic extracellular matrix (ECM) components have a crucial role in controlling TGFβ signalling, while soluble and membrane bound forms of TGF β co-receptors add further layers of regulation.
Journal ArticleDOI
TGF-β Superfamily Signaling in Embryonic Development and Homeostasis
Mary Y. Wu,Caroline S. Hill +1 more
TL;DR: Some key developmental and disease processes requiring TGF-beta ligands to underscore the fundamental importance of these pathways are explored before delving into the molecular mechanism of signal transduction, focusing on recent findings.
References
More filters
Journal ArticleDOI
How cells read TGF-beta signals.
TL;DR: The TGF-β family of cytokines can trigger a bewildering diversity of responses, depending on the genetic makeup and environment of the target cell.
Journal ArticleDOI
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
Claire L. Shovlin,Alan E. Guttmacher,Elisabetta Buscarini,Marie E. Faughnan,Robert H. Hyland,C.J.J. Westermann,Anette Drøhse Kjeldsen,Henri Plauchu +7 more
TL;DR: A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.
Journal ArticleDOI
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
Kimberly A. McAllister,Grogg Km,Darren W. Johnson,Carol J. Gallione,Melanie A. Baldwin,Charles E. Jackson,Charles E. Jackson,E A Helmbold,Dorene S. Markel,Wendy McKinnon,Jill R. Murrell +10 more
TL;DR: Endoglin is identified as the HHT gene mapping to 9q3 and HHT is established as the first human disease defined by a mutation in a member of the TGF-β receptor complex.
Journal ArticleDOI
Balancing the activation state of the endothelium via two distinct TGF‐β type I receptors
Marie-José Goumans,Gudrun Valdimarsdottir,Susumu Itoh,Alexander Rosendahl,Paschalis Sideras,Peter ten Dijke +5 more
TL;DR: It is reported that TGF‐β can activate two distinct type I receptor/Smad signalling pathways with opposite effects, and the results suggest that T GF‐β regulates the activation state of the endothelium via a fine balance between ALK5 and ALK1 signalling.
Journal ArticleDOI
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
Darren W. Johnson,Jonathan Berg,Jonathan Berg,Melanie A. Baldwin,Carol J. Gallione,Ivonne Marondel,S.-J. Yoon,Timothy T. Stenzel,Marcy C. Speer,Margaret A. Pericak-Vance,Austin G. Diamond,Alan E. Guttmacher,Charles E. Jackson,L. Attisano,Raju Kucherlapati,Mary Porteous,Douglas A. Marchuk +16 more
TL;DR: A new 4 cM interval for ORW2 is reported that does not overlap with any previously defined and suggests a critical role for ALK1 in the control of blood vessel development or repair.
Related Papers (5)
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Marie E. Faughnan,Valerie A. Palda,Guadalupe Garcia-Tsao,Urban W. Geisthoff,Jamie McDonald,Deborah D. Proctor,J Spears,Dale H. Brown,Elisabetta Buscarini,Mark S. Chesnutt,Vincent Cottin,Arupa Ganguly,James R. Gossage,Alan E. Guttmacher,Robert H. Hyland,Shelley J. Kennedy,Joshua R. Korzenik,J J Mager,A P Ozanne,Jay F. Piccirillo,Daniel Picus,Henri Plauchu,Mary Porteous,Reed E. Pyeritz,Douglas A. Ross,Carlo Sabbà,Karen L. Swanson,Peter B. Terry,M C Wallace,C.J.J. Westermann,Robert I. White,Lawrence H. Young,Roberto Zarrabeitia +32 more