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"DNA sequence and analysis of human chromosome 9."
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Nature429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells."
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"Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1."
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Nat. Genet.8:345-351(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors."
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"The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells."
Lee N.Y. , Blobe G.C.
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"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
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"Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth."
Castonguay R. , Werner E.D. , Matthews R.G. , Presman E. , Mulivor A.W. , Solban N. , Sako D. , Pearsall R.S. , Underwood K.W. , Seehra J. , Kumar R. , Grinberg A.V.
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"Structural and functional insights into endoglin ligand recognition and binding."
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PLoS ONE7:E29948-E29948(2012) [PubMed] [Europe PMC] [Abstract]

"Endoglin requirement for BMP9 signaling in endothelial cells reveals new mechanism of action for selective anti-endoglin antibodies."
Nolan-Stevaux O. , Zhong W. , Culp S. , Shaffer K. , Hoover J. , Wickramasinghe D. , Ruefli-Brasse A.
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"Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia."
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Am. J. Hum. Genet.61:68-79(1997) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia."
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"Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles."
Gallione C.J. , Klaus D.J. , Yeh E.Y. , Stenzel T.T. , Xue Y. , Anthony K.B. , McAllister K.A. , Baldwin M.A. , Berg J.N. , Lux A. , Smith J.D. , Vary C.P.H. , Craigen W.J. , Westermann C.J.J. , Warner M.L. , Miller Y.E. , Jackson C.E. , Guttmacher A.E. , Marchuk D.A. more...
Hum. Mutat.11:286-294(1998) [PubMed] [Europe PMC] [Abstract]

"Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1."
Pece-Barbara N. , Cymerman U. , Vera S. , Marchuk D.A. , Letarte M.
Hum. Mol. Genet.8:2171-2181(1999) [PubMed] [Europe PMC] [Abstract]

"Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect."
Gallione C.J. , Scheessele E.A. , Reinhardt D. , Duits A.J. , Berg J.N. , Westermann C.J.J. , Marchuk D.A.
Hum. Genet.107:40-44(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin."
Cymerman U. , Vera S. , Pece-Barbara N. , Bourdeau A. , White R.I. Jr. , Dunn J. , Letarte M.
Pediatr. Res.47:24-35(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France."
French Rendu-Osler network , Lesca G. , Plauchu H. , Coulet F. , Lefebvre S. , Plessis G. , Odent S. , Riviere S. , Leheup B. , Goizet C. , Carette M.-F. , Cordier J.-F. , Pinson S. , Soubrier F. , Calender A. , Giraud S.
Hum. Mutat.23:289-299(2004) [PubMed] [Europe PMC] [Abstract]

"Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."
Kuehl H.K.A. , Caselitz M. , Hasenkamp S. , Wagner S. , El-Harith E.-H.A. , Manns M.P. , Stuhrmann M.
Hum. Mutat.25:320-320(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
Bossler A.D. , Richards J. , George C. , Godmilow L. , Ganguly A.
Hum. Mutat.27:667-675(2006) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
Argyriou L. , Twelkemeyer S. , Panchulidze I. , Wehner L.E. , Teske U. , Engel W. , Nayernia K.
Int. J. Mol. Med.17:655-659(2006) [PubMed] [Europe PMC] [Abstract]

"Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."
Richards-Yutz J. , Grant K. , Chao E.C. , Walther S.E. , Ganguly A.
Hum. Genet.128:61-77(2010) [PubMed] [Europe PMC] [Abstract]