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Results: 1 to 20 of 39

1.

Arterial Tortuosity Syndrome.

Callewaert B, De Paepe A, Coucke P.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2014 Nov 13.

2.

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
3.

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.

Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N.

Hum Genet. 2012 Apr;131(4):591-9. doi: 10.1007/s00439-011-1105-7. Epub 2011 Oct 15.

PMID:
22001912
[PubMed - indexed for MEDLINE]
4.

A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles.

Wagner SA, Beli P, Weinert BT, Nielsen ML, Cox J, Mann M, Choudhary C.

Mol Cell Proteomics. 2011 Oct;10(10):M111.013284. doi: 10.1074/mcp.M111.013284. Epub 2011 Sep 1.

PMID:
21890473
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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

Jiang YD, Chang YC, Chiu YF, Chang TJ, Li HY, Lin WH, Yuan HY, Chen YT, Chuang LM.

BMC Med Genet. 2010 Aug 25;11:126. doi: 10.1186/1471-2350-11-126.

PMID:
20735855
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
7.

Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S; DREAM investigators.

Diabetes Care. 2010 Oct;33(10):2250-3. doi: 10.2337/dc10-0452. Epub 2010 Jul 13.

PMID:
20628086
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR.

Mol Med. 2010 Jul-Aug;16(7-8):247-53. doi: 10.2119/molmed.2009.00159. Epub 2010 Mar 17. Erratum in: Mol Med. 2012;18(1):729.

PMID:
20379614
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD; ASCOT investigators; NORDIL investigators; BRIGHT Consortium.

Am J Hum Genet. 2009 Nov;85(5):628-42. doi: 10.1016/j.ajhg.2009.10.014.

PMID:
19913121
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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. doi: 10.1111/j.1399-0004.2009.01165.x. No abstract available.

PMID:
19508422
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
13.

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]
14.

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]
15.

Ischemic stroke in an adolescent with arterial tortuosity syndrome.

Cartwright MS, Hickling WH, Roach ES.

Neurology. 2006 Jul 25;67(2):360-1. No abstract available.

PMID:
16864843
[PubMed - indexed for MEDLINE]
16.

Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population.

Lin WH, Chuang LM, Chen CH, Yeh JI, Hsieh PS, Cheng CH, Chen YT.

Diabetologia. 2006 Jun;49(6):1214-21. Epub 2006 Apr 4.

PMID:
16586067
[PubMed - indexed for MEDLINE]
17.

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]
18.

Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.

Bento JL, Bowden DW, Mychaleckyj JC, Hirakawa S, Rich SS, Freedman BI, Segade F.

BMC Med Genet. 2005 Dec 7;6:42.

PMID:
16336637
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Functional characterization of the promoter of the human glucose transporter 10 gene.

Segade F, Allred DC, Bowden DW.

Biochim Biophys Acta. 2005 Aug 15;1730(2):147-58.

PMID:
16051383
[PubMed - indexed for MEDLINE]
20.

Studies of relationships between the GLUT10 Ala206Thr polymorphism and impaired insulin secretion.

Rose CS, Andersen G, Hamid YH, Glümer C, Drivsholm T, Borch-Johnsen K, Jørgensen T, Pedersen O, Hansen T.

Diabet Med. 2005 Jul;22(7):946-9.

PMID:
15975113
[PubMed - indexed for MEDLINE]

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