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Results: 1 to 20 of 105

1.

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

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.

Nat Genet. 2006 Apr;38(4):452-7. Epub 2006 Mar 19.

PMID:
16550171
[PubMed - indexed for MEDLINE]
2.

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

Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M.

Am J Med Genet A. 2007 Jan 15;143(2):216-8. No abstract available.

PMID:
17163528
[PubMed - indexed for MEDLINE]
3.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

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.

Hum Mutat. 2008 Jan;29(1):150-8.

PMID:
17935213
[PubMed - indexed for MEDLINE]
4.

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. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5.

PMID:
18774132
[PubMed - indexed for MEDLINE]
5.

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.

Callewaert BL, Loeys BL, Casteleyn C, Willaert A, Dewint P, De Backer J, Sedlmeier R, Simoens P, De Paepe AM, Coucke PJ.

Genesis. 2008 Aug;46(8):385-9. doi: 10.1002/dvg.20409.

PMID:
18693279
[PubMed - indexed for MEDLINE]
6.

Mutations in the SLC2A10 gene cause arterial abnormalities in mice.

Cheng CH, Kikuchi T, Chen YH, Sabbagha NG, Lee YC, Pan HJ, Chang C, Chen YT.

Cardiovasc Res. 2009 Feb 1;81(2):381-8. doi: 10.1093/cvr/cvn319. Epub 2008 Nov 21.

PMID:
19028722
[PubMed - indexed for MEDLINE]
Free Article
7.

Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.

Segade F.

FEBS Lett. 2010 Jul 16;584(14):2990-4. doi: 10.1016/j.febslet.2010.06.011. Epub 2010 Jun 12. Review.

PMID:
20547159
[PubMed - indexed for MEDLINE]
Free Article
8.

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. doi: 10.1007/s00431-008-0839-2. Epub 2008 Sep 26.

PMID:
18818946
[PubMed - indexed for MEDLINE]
9.

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. doi: 10.1002/ajmg.a.35266. Epub 2012 Apr 9.

PMID:
22488877
[PubMed - indexed for MEDLINE]
10.

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. doi: 10.1387/ijdb.103179nc.

PMID:
21553381
[PubMed - indexed for MEDLINE]
Free Article
11.

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

Lee YC, Huang HY, Chang CJ, Cheng CH, Chen YT.

Hum Mol Genet. 2010 Oct 1;19(19):3721-33. doi: 10.1093/hmg/ddq286. Epub 2010 Jul 16.

PMID:
20639396
[PubMed - indexed for MEDLINE]
Free Article
12.

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.

Willaert A, Khatri S, Callewaert BL, Coucke PJ, Crosby SD, Lee JG, Davis EC, Shiva S, Tsang M, De Paepe A, Urban Z.

Hum Mol Genet. 2012 Mar 15;21(6):1248-59. doi: 10.1093/hmg/ddr555. Epub 2011 Nov 24.

PMID:
22116938
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Arterial tortuosity syndrome in two Italian paediatric patients.

Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M.

Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20.

PMID:
19781076
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

New insights in the pathogenesis of aortic aneurysms.

Loeys B, De Paepe A.

Verh K Acad Geneeskd Belg. 2008;70(2):69-84. Review.

PMID:
18630721
[PubMed - indexed for MEDLINE]
15.

Sequence and functional analysis of GLUT10: a glucose transporter in the Type 2 diabetes-linked region of chromosome 20q12-13.1.

Dawson PA, Mychaleckyj JC, Fossey SC, Mihic SJ, Craddock AL, Bowden DW.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):186-99.

PMID:
11592815
[PubMed - indexed for MEDLINE]
16.
17.

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.

Coucke PJ, Wessels MW, Van Acker P, Gardella R, Barlati S, Willems PJ, Colombi M, De Paepe A.

J Med Genet. 2003 Oct;40(10):747-51.

PMID:
14569121
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Successful outcome in pregnancy with arterial tortuosity syndrome.

Allen VM, Horne SG, Penney LS, Rapchuk IL, Brock JA, Thompson DL, Stinson DA.

Obstet Gynecol. 2009 Aug;114(2 Pt 2):494-8. doi: 10.1097/AOG.0b013e3181a99e52.

PMID:
19622975
[PubMed - indexed for MEDLINE]
19.

Exclusion of candidate genes in a family with arterial tortuosity syndrome.

Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M.

Am J Med Genet A. 2004 Apr 30;126A(3):221-8.

PMID:
15054833
[PubMed - indexed for MEDLINE]
20.

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. doi: 10.1111/j.1399-0004.2008.01049.x. Epub 2008 Jun 28. No abstract available.

PMID:
18565096
[PubMed - indexed for MEDLINE]

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