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SLC2A10
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
SLC2A10
gene.
Akhurst RJ. A sweet link between TGFbeta and vascular disease? Nat Genet. 2006 Apr;38(4):400-1.
PubMed citation
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008 Jan;29(1):150-8.
PubMed citation
Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M. 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. Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266. Epub 2012 Apr 9.
PubMed citation
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. Epub 2006 Mar 19.
PubMed citation
Entrez
Gene
Jiang YD, Chang YC, Chiu YF, Chang TJ, Li HY, Lin WH, Yuan HY, Chen YT, Chuang LM. SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes. BMC Med Genet. 2010 Aug 25;11:126. doi: 10.1186/1471-2350-11-126.
PubMed citation
OMIM:
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
10
Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M. Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20.
PubMed citation
Segade F. Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. FEBS Lett. 2010 Jul 16;584(14):2990-4. doi: 10.1016/j.febslet.2010.06.011. Epub 2010 Jun 12. Review.
PubMed citation
Willaert A, Khatri S, Callewaert BL, Coucke PJ, Crosby SD, Lee JG, Davis EC, Shiva S, Tsang M, De Paepe A, Urban Z. GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Hum Mol Genet. 2012 Mar 15;21(6):1248-59. doi: 10.1093/hmg/ddr555. Epub 2011 Nov 24.
PubMed citation
Reviewed: January 2013
Published: June 17, 2013