Literature DB >> 17163528

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

Bruno Drera1, Andrea Guala, Nicoletta Zoppi, Rita Gardella, Piergiorgio Franceschini, Sergio Barlati, Marina Colombi.   

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Year:  2007        PMID： 17163528     DOI： 10.1002/ajmg.a.31514

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  10 in total

Review 1.  The pathobiology of vascular malformations: insights from human and model organism genetics.

Authors:  Sarah E Wetzel-Strong; Matthew R Detter; Douglas A Marchuk
Journal:  J Pathol       Date:  2016-12-04       Impact factor: 7.996

2.  A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Authors:  Syed H E Zaidi; Sascha Meyer; Vanya D Peltekova; Angelika Lindinger; Ahmad S Teebi; Muhammad Faiyaz-Ul-Haque
Journal:  Eur J Pediatr       Date:  2008-09-26       Impact factor: 3.183

3.  SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.

Authors:  Yi-Der Jiang; Yi-Cheng Chang; Yen-Feng Chiu; Tien-Jyun Chang; Hung-Yuan Li; Wen-Hsing Lin; Hsiang-Yu Yuan; Yuan-Tsong Chen; Lee-Ming Chuang
Journal:  BMC Med Genet       Date:  2010-08-25       Impact factor: 2.103

4.  Arterial tortuosity syndrome in two Italian paediatric patients.

Authors:  Marco Ritelli; Bruno Drera; Mariano Vicchio; Giovanni Puppini; Paolo Biban; Mara Pilati; Maria Antonia Prioli; Sergio Barlati; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2009-09-25       Impact factor: 4.123

Review 5.  Vitamin C transporters.

Authors:  C I Rivas; F A Zúñiga; A Salas-Burgos; L Mardones; V Ormazabal; J C Vera
Journal:  J Physiol Biochem       Date:  2008-12       Impact factor: 4.158

Review 6.  Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Authors:  Marco Ritelli; Nicola Chiarelli; Chiara Dordoni; Elena Reffo; Marina Venturini; Stefano Quinzani; Matteo Della Monica; Gioacchino Scarano; Giuseppe Santoro; Maria Giovanna Russo; Piergiacomo Calzavara-Pinton; Ornella Milanesi; Marina Colombi
Journal:  BMC Med Genet       Date:  2014-11-06       Impact factor: 2.103

7.  GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Authors:  Nicoletta Zoppi; Nicola Chiarelli; Valeria Cinquina; Marco Ritelli; Marina Colombi
Journal:  Hum Mol Genet       Date:  2015-09-16       Impact factor: 6.150

8.  GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Authors:  Alessandra Gamberucci; Paola Marcolongo; Csilla E Németh; Nicoletta Zoppi; András Szarka; Nicola Chiarelli; Tamás Hegedűs; Marco Ritelli; Giulia Carini; Andy Willaert; Bert L Callewaert; Paul J Coucke; Angiolo Benedetti; Éva Margittai; Rosella Fulceri; Gábor Bánhegyi; Marina Colombi
Journal:  Int J Mol Sci       Date:  2017-08-22       Impact factor: 5.923

Review 9.  Glucose Transport and Transporters in the Endomembranes.

Authors:  Beáta Lizák; András Szarka; Yejin Kim; Kyu-Sung Choi; Csilla E Németh; Paola Marcolongo; Angelo Benedetti; Gábor Bánhegyi; Éva Margittai
Journal:  Int J Mol Sci       Date:  2019-11-24       Impact factor: 5.923

10.  Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Authors:  Hang Yang; Mingyao Luo; Yuanyuan Fu; Yandong Cao; Kunlun Yin; Wenke Li; Chunjie Meng; Yanyun Ma; Jing Zhang; Yuxin Fan; Chang Shu; Qian Chang; Zhou Zhou
Journal:  Sci Rep       Date:  2016-09-09       Impact factor: 4.379
  10 in total

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