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Items: 1 to 20 of 95

1.

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
2.

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
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
4.

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
5.

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
6.

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
7.

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
8.

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
9.

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
10.

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
11.

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.

12.

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;143A(2):216-8. No abstract available.

PMID:
17163528
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 6;15:122. doi: 10.1186/s12881-014-0122-5. Review.

14.

Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.

Takahashi Y, Fujii K, Yoshida A, Morisaki H, Kohno Y, Morisaki T.

Am J Med Genet A. 2013 Apr;161A(4):856-9. doi: 10.1002/ajmg.a.35776. Epub 2013 Mar 12.

PMID:
23494979
15.

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.

Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A.

Am J Med Genet A. 2008 Feb 15;146A(4):496-9. doi: 10.1002/ajmg.a.32168.

PMID:
18203154
16.

Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome.

Bottio T, Bisleri G, Piccoli P, Muneretto C.

J Thorac Cardiovasc Surg. 2007 Jan;133(1):252-3. No abstract available.

17.

Arterial tortuosity syndrome: case report.

Karakurt C, Koçak G, Elkiran O, Coucke PJ, Van Maldergem L.

Genet Couns. 2012;23(4):477-82.

PMID:
23431747
18.

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.

19.

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 1;24(23):6769-87. doi: 10.1093/hmg/ddv382. Epub 2015 Sep 16.

20.

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

Németh CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, Ritelli M, Chiarelli N, Colombi M, Willaert A, Callewaert BL, Coucke PJ, Gróf P, Nagy SK, Mészáros T, Bánhegyi G, Margittai É.

FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27.

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