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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2005 4
2006 2
2008 3
2009 3
2010 3
2011 1
2012 1
2014 2
2015 1
2016 1
2017 1
2018 2
2019 1
2020 3
2021 1
2022 1
2024 0

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PubMed (GeneRIF) for id: 81031

27 results

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Page 1
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Boel A, Burger J, Vanhomwegen M, Beyens A, Renard M, Barnhoorn S, Casteleyn C, Reinhardt DP, Descamps B, Vanhove C, van der Pluijm I, Coucke P, Willaert A, Essers J, Callewaert B. Boel A, et al. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537
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. Beyens A, et al. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
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. Németh CE, et al. FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27. FEBS Lett. 2016. PMID: 27153185 Free article.
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. Ritelli M, et al. BMC Med Genet. 2014 Nov 6;15:122. doi: 10.1186/s12881-014-0122-5. BMC Med Genet. 2014. PMID: 25373504 Free PMC article. Review.
27 results