Obsah souboru
<?xml version="1.0" encoding="utf-8"?>
<!DOCTYPE Publisher PUBLIC "-//MetaPress//DTD MetaPress 2.0//EN" "http://public.metapress.com/dtd/MPRESS/MetaPressv2.dtd">
<Publisher>
<PublisherInfo>
<PublisherName>University of South Bohemia, Ceske Budejovice and Versita, Warsaw</PublisherName>
</PublisherInfo>
<Journal>
<JournalInfo JournalType="Journals">
<JournalPrintISSN>1214-021X</JournalPrintISSN>
<JournalElectronicISSN>1214-0287</JournalElectronicISSN>
<JournalTitle>Journal of Applied Biomedicine</JournalTitle>
<JournalCode>JAB</JournalCode>
<JournalID>121649</JournalID>
<JournalURL>http://versita.metapress.com/link.asp?target=journal&id=121649</JournalURL>
</JournalInfo>
<Volume>
<VolumeInfo>
<VolumeNumber>8</VolumeNumber>
</VolumeInfo>
<Issue>
<IssueInfo IssueType="Regular">
<IssueNumberBegin>3</IssueNumberBegin>
<IssueNumberEnd>3</IssueNumberEnd>
<IssueSupplement>0</IssueSupplement>
<IssuePartStart>0</IssuePartStart>
<IssuePartEnd>0</IssuePartEnd>
<IssueSequence>000008000320100901</IssueSequence>
<IssuePublicationDate>
<CoverDate Year="2010" Month="9" Day="1"/>
<CoverDisplay>Number 3 / September 2010</CoverDisplay>
</IssuePublicationDate>
<IssueID>W7U4305X5R35</IssueID>
<IssueURL>http://versita.metapress.com/link.asp?target=issue&id=W7U4305X5R35</IssueURL>
</IssueInfo>
<Article ArticleType="Original">
<ArticleInfo Free="No" ESM="No">
<ArticleDOI>10.2478/v10136-009-0020-x</ArticleDOI>
<ArticlePII>N207780366074268</ArticlePII>
<ArticleSequenceNumber>6</ArticleSequenceNumber>
<ArticleTitle Language="En">Involvement of the TGF-β superfamily signalling pathway in hereditary haemorrhagic telangiectasia</ArticleTitle>
<ArticleFirstPage>169</ArticleFirstPage>
<ArticleLastPage>177</ArticleLastPage>
<ArticleHistory>
<RegistrationDate>20100708</RegistrationDate>
<ReceivedDate>20100708</ReceivedDate>
<Accepted>20100708</Accepted>
<OnlineDate>20100708</OnlineDate>
</ArticleHistory>
<FullTextFileName>N207780366074268.pdf</FullTextFileName>
<FullTextURL>http://versita.metapress.com/link.asp?target=contribution&id=N207780366074268</FullTextURL>
<Composite>3</Composite>
</ArticleInfo>
<ArticleHeader>
<AuthorGroup>
<Author AffiliationID="A1">
<GivenName>Carmelo</GivenName>
<Initials/>
<FamilyName>Bernabéu</FamilyName>
<Degrees/>
<Roles/>
</Author>
<Author AffiliationID="A1">
<GivenName>Francisco</GivenName>
<Initials>Javier</Initials>
<FamilyName>Blanco</FamilyName>
<Degrees/>
<Roles/>
</Author>
<Author AffiliationID="A1">
<GivenName>Carmen</GivenName>
<Initials/>
<FamilyName>Langa</FamilyName>
<Degrees/>
<Roles/>
</Author>
<Author AffiliationID="A1">
<GivenName>Eva</GivenName>
<Initials>María</Initials>
<FamilyName>Garrido-Martin</FamilyName>
<Degrees/>
<Roles/>
</Author>
<Author AffiliationID="A1">
<GivenName>Luisa</GivenName>
<Initials>María</Initials>
<FamilyName>Botella</FamilyName>
<Degrees/>
<Roles/>
</Author>
<Affiliation AFFID="A1">
<OrgDivision/>
<OrgName>Consejo Superior de Investigaciones Científicas (CSIC) and CIBER de Enfermedades Raras (CIBERER), Centro de Investigaciones Biológicas, 28040 Madrid, Spain</OrgName>
<OrgAddress/>
</Affiliation>
</AuthorGroup>
<Abstract Language="En">Hereditary haemorrhagic telangiectasia (HHT) is a vascular hereditary autosomic dominant disease associated with epistaxis, telangiectases, gastrointestinal haemorrhages and arteriovenous malformations in lung, liver and brain. It affects 1-2 in 10,000 people. There are at least three different genes mutated in HHT, <i>ENG</i>, <i>ACVRL1</i> and <i>MADH4</i> that encode endoglin, activin receptor-like kinase (ALK1) and Smad4 proteins, respectively. These proteins are involved in the transforming growth factor (TGF)-β superfamily signalling pathway of vascular endothelial cells. Mutations in <i>ENG</i> (HHT1) and <i>ACVRL1</i> (HHT2) account for more than 90% of all HHT mutations. In this article, we review the underlying molecular and cellular bases and the therapeutic approaches that have been addressed in our laboratory in recent years.</Abstract>
<KeywordGroup Language="En">
<Keyword>transforming growth factor</Keyword>
</KeywordGroup>
<KeywordGroup Language="En">
<Keyword>endothelial cells</Keyword>
</KeywordGroup>
<KeywordGroup Language="En">
<Keyword>hereditary haemorrhagic telangiectasia</Keyword>
</KeywordGroup>
<KeywordGroup Language="En">
<Keyword>endoglin</Keyword>
</KeywordGroup>
<KeywordGroup Language="En">
<Keyword>ALK1</Keyword>
</KeywordGroup>
<KeywordGroup Language="En">
<Keyword>Smad</Keyword>
</KeywordGroup>
<KeywordGroup Language="En">
<Keyword>anti-fibrinolytic agents</Keyword>
</KeywordGroup>
<KeywordGroup Language="En">
<Keyword>estrogens</Keyword>
</KeywordGroup>
<biblist>
<bib-other>
<bibtext seqNum="1"> Abdalla SA, Letarte M: Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 43:97-110, 2006.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="2"> Albiñana V, Bernabeu-Herrero ME, Zarrabeitia R, Bernabéu C, Botella LM: Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells. Thromb Haemost 103:525-534, 2010.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="3"> Bellon T, Corbi A, Lastres P, Cales C, Cebrián M, Vera S, Cheifetz S, Massague J, Letarte M, Bernabéu C: Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions. Eur J Immunol 23:2340-2345, 1993.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="4"> Bernabéu C, Conley BA, Vary CP: Novel biochemical pathways of endoglin in vascular cell physiology. J Cell Biochem 102:1375-1388, 2007.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="5"> Bernabéu C, López-Novoa JM, Quintanilla M: An emerging role of TGF-β co-receptors in cancer. Biochem Biophys Acta 1792:954-973, 2009.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="6"> Blanco FJ, Santibanez JF, Guerrero-Esteo M, Langa C, Vary CP, Bernabéu C: Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex. J Cell Physiol 204:574-584, 2005.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="7"> Blanco FJ, Grande MT, Langa C, Oujo B, Velasco S, Rodríguez-Barbero A, Pérez-Gómez E, Quintanilla M, López-Novoa JM, Bernabéu C: S-endoglin expression is induced in senescent endothelial cells and contributes to vascular pathology. Circ Res 103:1383-1392, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="8"> Botella LM, Sánchez-Elsner T, Rius C, Corbí A, Bernabéu C: Identification of a critical Sp1 site within the endoglin promoter and its involvement in the transforming growth factor-beta stimulation. J Biol Chem 276:34486-3494, 2001.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="9"> Botella LM, Sánchez-Elsner T, Sanz-Rodriguez F, Kojima S, Shimada J, Guerrero-Esteo M, Cooreman MP, Ratziu V, Langa C, Vary CP, Ramirez JR, Friedman S et al.: Transcriptional activation of endoglin and transforming growth factor-beta signaling components by cooperative interaction between Sp1 and KLF6: their potential role in the response to vascular injury. Blood 100:4001-4010, 2002.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="10"> David L, Feige JJ, Bailly S: Emerging role of bone morphogenetic proteins in angiogenesis. Cytokine Growth Factor Rev 20:203-212, 2009.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="11"> Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A et al.: International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. J Med Genet published online June 23, 2009 doi:10.1136/jmg.2009.069013</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="12"> Fernández-L A, Sanz-Rodriguez F, Zarrabeitia R, Pérez-Molino A, Hebbel RP, Nguyen J, Bernabéu C, Botella LM: Blood outgrowth endothelial cells from hereditary haemorrhagic telangiectasia patients reveal abnormalities compatible with vascular lesions. Cardiovasc Res 68:235-248, 2005.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="13"> Fernández-L A, Garrido-Martin EM, Sanz-Rodriguez F, Ramirez JR, Morales-Angulo C, Zarrabeitia R, Pérez-Molino A, Bernabéu C, Botella LM: Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT): regulation of ALK-1/endoglin pathway in endothelial cells. Thromb Haemost 97:254-262, 2007.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="14"> Fernández-Ruiz E, St-Jacques S, Bellón T, Letarte M, Bernabéu C: Assignment of the human endoglin gene (END) to 9q34qter. Cytogenet Cell Genet 64:204-207, 1993.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="15"> Fonsatti E, Nicolay HJ, Altomonte M, Covre A, Maio M: Targeting cancer vasculature via endoglin/cd105: a novel antibody-based diagnostic and therapeutic strategy in solid tumors. Cardiovasc Res 86:12-19, 2010.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="16"> Fontalba A, Fernández-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Pérez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabéu C et al.: Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. BMC Med Genet 9:75, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="17"> Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME et al.: Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A 152A:333-339, 2010.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="18"> Gordon KJ, Blobe GC: Role of transforming growth factor-beta superfamily signaling pathways in human disease. Biochim Biophys Acta 1782:197-228, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="19"> Gougos A, Letarte M: Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J Biol Chem 265:8361-8364, 1990.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="20"> Goumans MJ, Liu Z, ten Dijke P: TGF-beta signaling in vascular biology and dysfunction. Cell Res 19:116-127, 2009.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="21"> Govani FS, Shovlin CL: Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 17:860-871, 2009.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="22"> Guerrero-Esteo M, Sánchez-Elsner T, Letamendia A, Bernabéu C: Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II. J Biol Chem 277:29197-29209, 2002.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="23"> Henry-Berger J, Mouzat K, Baron S, Bernabéu C, Marceau G, Saru JP, Sapin V, Lobaccaro JM, Caira F: Endoglin (CD105) expression is regulated by the liver X receptor alpha (NR1H3) in human trophoblast cell line JAR. Biol Reprod 78:968-975, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="24"> Jerkic M, Rivas-Elena JV, Santibanez JF, Prieto M, Rodríguez-Barbero A, Perez-Barriocanal F, Pericacho M, Arévalo M, Vary CP, Letarte M, Bernabéu C, López-Novoa JM: Endoglin regulates cyclooxygenase-2 expression and activity. Circ Res 99:248-256, 2006.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="25"> Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE et al.: Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 13:189-195, 1996.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="26"> Jovine L, Darie CC, Litscher ES, Wassarman PM: Zona pellucida domain proteins. Annu Rev Biochem 74:83-114, 2005.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="27"> Lebrin F, Mummery CL: Endoglin-mediated vascular remodeling: mechanisms underlying hereditary haemorrhagic telangiectasia. Trends Cardiovasc Med 18:25-32, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="28"> Li X, Yonenaga Y, Seki T: Shortened ALK1 regulatory fragment maintains a specific activity in arteries feeding ischemic tissues. Gene Ther 16:1034-1041, 2009.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="29"> Llorca O, Trujillo A, Blanco FJ, Bernabéu C: Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia. J Mol Biol 365:694-705, 2007.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="30"> Mannucci PM: Hemostatic drugs. N Engl J Med 339:245-253, 1998.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="31"> McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, McCormick MK, Pericak-Vance MA et al.: Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8:345-351, 1994.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="32"> Pérez-Gómez E, Eleno N, López-Novoa JM, Ramirez JR, Velasco B, Letarte M, Bernabéu C, Quintanilla M: Characterization of murine S-endoglin isoform and its effects on tumor development. Oncogene 24:4450-4461, 2005.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="33"> Pérez-Gómez E, Villa-Morales M, Santos J, Fernández-Piqueras J, Gamallo C, Dotor J, Bernabéu C, Quintanilla M: A role for endoglin as a suppressor of malignancy during mouse skin carcinogenesis. Cancer Res 67:10268-10277, 2007.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="34"> Pimanda JE, Chan WY, Wilson NK, Smith AM, Kinston S, Knezevic K, Janes ME, Landry JR, Kolb-Kokocinski A, Frampton J, Tannahill D, Ottersbach K et al.: Endoglin expression in blood and endothelium is differentially regulated by modular assembly of the Ets/Gata hemangioblast code. Blood 112:4512-4522, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="35"> Plauchu H, de Chadarévian JP, Bideau A, Robert JM: Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 32:291-297, 1989.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="36"> Rius C, Smith JD, Almendro N, Langa C, Botella LM, Marchuk DA, Vary CP, Bernabéu C: Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1. Blood 92:4677-4690, 1998.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="37"> Sabba C, Gallitelli M, Palasciano G: Efficacy of unusually high doses of tranexamic acid for the treatment of epistaxis in hereditary hemorrhagic telangiectasia. N Engl J Med 345:926, 2001.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="38"> Sánchez-Elsner T, Botella LM, Velasco B, Langa C, Bernabéu C: Endoglin expression is regulated by transcriptional cooperation between the hypoxia and transforming growth factor-β pathways. J Biol Chem 277:43799-43808, 2002.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="39"> Santibanez JF, Letamendia A, Perez-Barriocanal F, Silvestri C, Saura M, Vary CP, López-Novoa JM, Attisano L, Bernabéu C: Endoglin increases eNOS expression by modulating Smad2 protein levels and Smad2-dependent TGF-beta signaling. J Cell Physiol 210:456-468, 2007.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="40"> Santibanez JF, Blanco FJ, Garrido-Martin EM, Sanz-Rodriguez F, del Pozo MA, Bernabéu C: Caveolin-1 interacts and cooperates with the transforming growth factor-beta type I receptor ALK1 in endothelial caveolae. Cardiovasc Res 77:791-799, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="41"> Sanz-Rodriguez F, Guerrero-Esteo M, Botella LM, Banville D, Vary CP, Bernabéu C: Endoglin regulates cytoskeletal organization through binding to ZRP-1, a member of the Lim family of proteins. J Biol Chem 279:32858-32868, 2004.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="42"> Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91:66-67, 2000.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="43"> Velasco S, Alvarez-Muñoz P, Pericacho M, Dijke PT, Bernabéu C, López-Novoa JM, Rodríguez-Barbero A: L- and S-endoglin differentially modulate TGFbeta1 signaling mediated by ALK1 and ALK5 in L6E9 myoblasts. J Cell Sci 121:913-919, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="44"> Wong VC, Chan PL, Bernabéu C, Law S, Wang LD, Li JL, Tsao SW, Srivastava G, Lung ML: Identification of an invasion and tumor-suppressing gene, Endoglin (ENG), silenced by both epigenetic inactivation and allelic loss in esophageal squamous cell carcinoma. Int J Cancer 123:2816-2823, 2008.</bibtext>
</bib-other>
<bib-other>
<bibtext seqNum="45"> Zacharski LR, Dunbar SD, Newsom WA, Jr.: Hemostatic effects of tamoxifen in HHT. Thromb Haemost 85:371-372, 2001.</bibtext>
</bib-other>
</biblist>
</ArticleHeader>
</Article>
</Issue>
</Volume>
</Journal>
</Publisher>
bernabeu.xml