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7. A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Faiyaz-Ul-Haque M; Zaidi SH; Al-Sanna N; Alswaid A; Momenah T; Kaya N; Al-Dayel F; Bouhoaigah I; Saliem M; Tsui LC; Teebi AS Atherosclerosis; 2009 Apr; 203(2):466-71. PubMed ID: 18774132 [TBL] [Abstract][Full Text] [Related]
8. Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio. Chiarelli N; Ritelli M; Zoppi N; Benini A; Borsani G; Barlati S; Colombi M Int J Dev Biol; 2011; 55(2):229-36. PubMed ID: 21553381 [TBL] [Abstract][Full Text] [Related]
9. Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. Zaidi SH; Meyer S; Peltekova I; Teebi AS; Faiyaz-Ul-Haque M Clin Genet; 2009 Jun; 75(6):588-9. PubMed ID: 19508422 [No Abstract] [Full Text] [Related]
10. Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects. Boel A; Burger J; Vanhomwegen M; Beyens A; Renard M; Barnhoorn S; Casteleyn C; Reinhardt DP; Descamps B; Vanhove C; van der Pluijm I; Coucke P; Willaert A; Essers J; Callewaert B Hum Mol Genet; 2020 Jun; 29(9):1476-1488. PubMed ID: 32307537 [TBL] [Abstract][Full Text] [Related]
11. Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Faiyaz-Ul-Haque M; Zaidi SH; Wahab AA; Eltohami A; Al-Mureikhi MS; Al-Thani G; Peltekova VD; Tsui LC; Teebi AS Clin Genet; 2008 Aug; 74(2):189-93. PubMed ID: 18565096 [No Abstract] [Full Text] [Related]
12. Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. Hardin JS; Zarate YA; Callewaert B; Phillips PH; Warner DB Ophthalmic Genet; 2018; 39(1):29-34. PubMed ID: 28726533 [TBL] [Abstract][Full Text] [Related]
13. 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. Ritelli M; Chiarelli N; Dordoni C; Reffo E; Venturini M; Quinzani S; Monica MD; Scarano G; Santoro G; Russo MG; Calzavara-Pinton P; Milanesi O; Colombi M BMC Med Genet; 2014 Nov; 15():122. PubMed ID: 25373504 [TBL] [Abstract][Full Text] [Related]
15. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. Castori M; Ritelli M; Zoppi N; Molisso L; Chiarelli N; Zaccagna F; Grammatico P; Colombi M Am J Med Genet A; 2012 May; 158A(5):1164-9. PubMed ID: 22488877 [TBL] [Abstract][Full Text] [Related]
16. New insights in the pathogenesis of aortic aneurysms. Loeys B; De Paepe A Verh K Acad Geneeskd Belg; 2008; 70(2):69-84. PubMed ID: 18630721 [TBL] [Abstract][Full Text] [Related]
17. Comprehensive in silico Study of GLUT10: Prediction of Possible Substrate Binding Sites and Interacting Molecules. Hosen MJ; Hasan M; Chakraborty S; Abir RA; Zubaer A; Coucke P Curr Pharm Biotechnol; 2020; 21(2):117-130. PubMed ID: 31203799 [TBL] [Abstract][Full Text] [Related]
18. A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. Zaidi SH; Meyer S; Peltekova VD; Lindinger A; Teebi AS; Faiyaz-Ul-Haque M Eur J Pediatr; 2009 Jul; 168(7):867-70. PubMed ID: 18818946 [TBL] [Abstract][Full Text] [Related]
19. GLUT10 maintains the integrity of major arteries through regulation of redox homeostasis and mitochondrial function. Syu YW; Lai HW; Jiang CL; Tsai HY; Lin CC; Lee YC Hum Mol Genet; 2018 Jan; 27(2):307-321. PubMed ID: 29149261 [TBL] [Abstract][Full Text] [Related]
20. 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. Zoppi N; Chiarelli N; Cinquina V; Ritelli M; Colombi M Hum Mol Genet; 2015 Dec; 24(23):6769-87. PubMed ID: 26376865 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]