Literature DB >> 15520401

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

A Karabegovic1, M Shinawi, U Cymerman, M Letarte.   

Abstract

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Year:  2004        PMID： 15520401      PMCID： PMC1735618          DOI： 10.1136/jmg.2004.022079

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

Review 1.  Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.

Authors:  Africa Fernández-L; Francisco Sanz-Rodriguez; Francisco J Blanco; Carmelo Bernabéu; Luisa M Botella
Journal:  Clin Med Res       Date:  2006-03

Review 2.  Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Authors:  S A Abdalla; M Letarte
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

3.  Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Authors:  Carla Olivieri; Fabio Pagella; Lucia Semino; Luca Lanzarini; Cristina Valacca; Andrea Pilotto; Sabrina Corno; Susi Scappaticci; Guido Manfredi; Elisabetta Buscarini; Cesare Danesino
Journal:  J Hum Genet       Date:  2007-09-05       Impact factor: 3.172

Review 4.  Hereditary haemorrhagic telangiectasia: a clinical and scientific review.

Authors:  Fatima S Govani; Claire L Shovlin
Journal:  Eur J Hum Genet       Date:  2009-04-01       Impact factor: 4.246

5.  Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Authors:  Bassam R Ali; Imen Ben-Rebeh; Anne John; Nadia A Akawi; Reham M Milhem; Nouf A Al-Shehhi; Mouza M Al-Ameri; Shamma A Al-Shamisi; Lihadh Al-Gazali
Journal:  PLoS One       Date:  2011-10-14       Impact factor: 3.240

6.  Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Authors:  Nesrin Gariballa; Praseetha Kizhakkedath; Nadia Akawi; Anne John; Bassam R Ali
Journal:  Front Mol Biosci       Date:  2022-02-25

7.  Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.

Authors:  Alistair N Hume; Anne John; Nadia A Akawi; Aydah M Al-Awadhi; Sarah S Al-Suwaidi; Lihadh Al-Gazali; Bassam R Ali
Journal:  Mol Cell Biochem       Date:  2012-11-04       Impact factor: 3.396

Review 8.  Pathogenesis of Brain Arteriovenous Malformations.

Authors:  Masaki Komiyama
Journal:  Neurol Med Chir (Tokyo)       Date:  2016-04-14       Impact factor: 1.742

Review 9.  Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Authors:  Nesrin Gariballa; Bassam R Ali
Journal:  Front Mol Biosci       Date:  2020-10-29
  9 in total

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