Literature DB >> 8595426

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

K A McAllister1, M A Baldwin, A K Thukkani, C J Gallione, J N Berg, M E Porteous, A E Guttmacher, D A Marchuk.   

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Year:  1995        PMID： 8595426     DOI： 10.1093/hmg/4.10.1983

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  27 in total

Review 1.  Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms.

Authors:  C L Shovlin; M Letarte
Journal:  Thorax       Date:  1999-08       Impact factor: 9.139

2.  Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.

Authors:  A Bourdeau; U Cymerman; M E Paquet; W Meschino; W C McKinnon; A E Guttmacher; L Becker; M Letarte
Journal:  Am J Pathol       Date:  2000-03       Impact factor: 4.307

3.  Endoglin and Alk5 regulate epithelial-mesenchymal transformation during cardiac valve formation.

Authors:  Melania E Mercado-Pimentel; Antony D Hubbard; Raymond B Runyan
Journal:  Dev Biol       Date:  2006-12-23       Impact factor: 3.582

4.  Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Authors:  F S Govani; A Giess; I G Mollet; M E Begbie; M D Jones; L Game; C L Shovlin
Journal:  Mol Syndromol       Date:  2013-04-11

5.  Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.

Authors:  A M Assis; F F Costa; V R Arruda; J M Annichino-Bizzacchi; C S Bertuzzo
Journal:  J Hum Genet       Date:  2007-01-12       Impact factor: 3.172

6.  Expression of normal and truncated forms of human endoglin.

Authors:  U Raab; B Velasco; P Lastres; A Letamendía; C Calés; C Langa; E Tapia; J P López-Bote; E Páez; C Bernabéu
Journal:  Biochem J       Date:  1999-05-01       Impact factor: 3.857

7.  Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years.

Authors:  T Krings; A Ozanne; S M Chng; H Alvarez; G Rodesch; P L Lasjaunias
Journal:  Neuroradiology       Date:  2005-09-01       Impact factor: 2.804

Review 8.  Venous pathologies in paediatric neuroradiology: from foetal to adolescent life.

Authors:  Kshitij Mankad; Asthik Biswas; Maria Camilla Rossi Espagnet; Luke Dixon; Nihaal Reddy; Ai Peng Tan; Ozgur Oztekin; Felice D'Arco; Karuna Shekdar; Prakash Muthusami; Fergus Robertson; Stacy Goergen; Winston Chong
Journal:  Neuroradiology       Date:  2019-11-09       Impact factor: 2.804

9.  Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

Authors:  Kyoko Kawasaki; Julia Freimuth; Dominique S Meyer; Marie M Lee; Akiko Tochimoto-Okamoto; Michael Benzinou; Frederic F Clermont; Gloria Wu; Ritu Roy; Tom G W Letteboer; Johannes Kristian Ploos van Amstel; Sophie Giraud; Sophie Dupuis-Girod; Gaeten Lesca; Cornelius J J Westermann; Robert J Coffey; Rosemary J Akhurst
Journal:  Proc Natl Acad Sci U S A       Date:  2014-05-08       Impact factor: 11.205

10.  Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.

Authors:  N Pece; S Vera; U Cymerman; R I White; J L Wrana; M Letarte
Journal:  J Clin Invest       Date:  1997-11-15       Impact factor: 14.808
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