BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 17163528)

  • 1. 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; 143A(2):216-8. PubMed ID: 17163528
    [No Abstract]   [Full Text] [Related]  

  • 2. 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. PubMed ID: 16550171
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 18774132
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 18818946
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 15():122. PubMed ID: 25373504
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    Hum Mol Genet; 2020 Jun; 29(9):1476-1488. PubMed ID: 32307537
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 81(2):381-8. PubMed ID: 19028722
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 22488877
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Comprehensive in silico Study of GLUT10: Prediction of Possible Substrate Binding Sites and Interacting Molecules.
    Hosen MJ; Hasan M; Chakraborty S; Abir RA; Zubaer A; Coucke P
    Curr Pharm Biotechnol; 2020; 21(2):117-130. PubMed ID: 31203799
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 39(1):29-34. PubMed ID: 28726533
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.
    Segade F
    FEBS Lett; 2010 Jul; 584(14):2990-4. PubMed ID: 20547159
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
    Boel A; Veszelyi K; Németh CE; Beyens A; Willaert A; Coucke P; Callewaert B; Margittai É
    Antioxid Redox Signal; 2021 Apr; 34(11):875-889. PubMed ID: 31621376
    [No Abstract]   [Full Text] [Related]  

  • 13. 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. PubMed ID: 17935213
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 21553381
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 18565096
    [No Abstract]   [Full Text] [Related]  

  • 16. 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. PubMed ID: 19508422
    [No Abstract]   [Full Text] [Related]  

  • 17. 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. PubMed ID: 18693279
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 74(1-2):186-99. PubMed ID: 11592815
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Successful outcome in pregnancy with arterial tortuosity syndrome.
    Allen VM; Horne SG; Penney LS; Rapchuk IL; Brock JK; Thompson DL; Stinson DA
    Obstet Gynecol; 2009 Aug; 114(2 Pt 2):494-498. PubMed ID: 19622975
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 19(19):3721-33. PubMed ID: 20639396
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.