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Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.

Németh CE, Nemoda Z, Lőw P, Szabó P, Horváth EZ, Willaert A, Boel A, Callewaert BL, Coucke PJ, Colombi M, Bánhegyi G, Margittai É.

Oxid Med Cell Longev. 2019 Jan 13;2019:8156592. doi: 10.1155/2019/8156592. eCollection 2019.


Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Baban A, Castori M.

Expert Rev Clin Pharmacol. 2018 Jul;11(7):689-703. doi: 10.1080/17512433.2018.1497973. Epub 2018 Jul 19. Review.


Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

Zoppi N, Chiarelli N, Ritelli M, Colombi M.

Int J Mol Sci. 2018 Mar 26;19(4). pii: E982. doi: 10.3390/ijms19040982. Review.


Severe neonatal hypertension revealing arterial tortuosity syndrome.

de Marcellus C, Baudouin V, Tanase A, Monet C, Perrin L, Deschenes G, Hogan J.

Kidney Int. 2018 Feb;93(2):526. doi: 10.1016/j.kint.2017.09.007. No abstract available.


Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;:.


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 15;27(2):307-321. doi: 10.1093/hmg/ddx401.


GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M.

Int J Mol Sci. 2017 Aug 22;18(8). pii: E1820. doi: 10.3390/ijms18081820.


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 Jan-Feb;39(1):29-34. doi: 10.1080/13816810.2017.1335332. Epub 2017 Jul 20.


The pathobiology of vascular malformations: insights from human and model organism genetics.

Wetzel-Strong SE, Detter MR, Marchuk DA.

J Pathol. 2017 Jan;241(2):281-293. doi: 10.1002/path.4844. Epub 2016 Dec 4. Review.


Arterial tortuosity syndrome.

Mehrabi E, Khan K, Malik SA.

BMJ Case Rep. 2016 Sep 20;2016. pii: bcr2016217029. doi: 10.1136/bcr-2016-217029. No abstract available.


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.


Severe Arterial Tortuosity.

Cubero A, Ayala J, Hamzeh G, Cortes A, Udaondo J, Aramendi JI.

World J Pediatr Congenit Heart Surg. 2017 Mar;8(2):231-234. doi: 10.1177/2150135116629396. Epub 2016 Jun 23.


Arterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care.

Kitt DQ.

Med Hypotheses. 2016 Feb;87:8-9. doi: 10.1016/j.mehy.2015.12.010. Epub 2015 Dec 17.


Arterial tortuosity in genetic arteriopathies.

Morris SA.

Curr Opin Cardiol. 2015 Nov;30(6):587-93. doi: 10.1097/HCO.0000000000000218. Review.


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.


Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Review.


Clinical utility gene card for: Arterial tortuosity syndrome.

Albuisson J, Moceri P, Flori E, Belli E, Gronier C, Jeunemaitre X.

Eur J Hum Genet. 2015 Oct;23(10). doi: 10.1038/ejhg.2014.294. Epub 2015 Jan 21. No abstract available.


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.


Subcellular compartmentation of ascorbate and its variation in disease states.

Bánhegyi G, Benedetti A, Margittai E, Marcolongo P, Fulceri R, Németh CE, Szarka A.

Biochim Biophys Acta. 2014 Sep;1843(9):1909-16. doi: 10.1016/j.bbamcr.2014.05.016. Epub 2014 Jun 4. Review.


Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

Chen S, Hong Y, Sherchan P, Zhang JM.

Turk Neurosurg. 2014;24(3):419-21. doi: 10.5137/1019-5149.JTN.7941-13.0.

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