H22954, a long non-coding RNA, inhibits glucose uptake in leukemia cells in a GLUT10-dependent manner. | H22954, a long non-coding RNA, inhibits glucose uptake in leukemia cells in a GLUT10-dependent manner. Bai Y, Ye B, Li T, Wang R, Qi X. | 04/23/2022 |
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder? | Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder? Boel A, Veszelyi K, Németh CE, Beyens A, Willaert A, Coucke P, Callewaert B, Margittai É. | 12/4/2021 |
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects. | 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. | 08/14/2021 |
The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia. | The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia. Lai B, Lai Y, Zhang Y, Zhou M, Sheng L, OuYang G., Free PMC Article | 09/26/2020 |
Data show that GLUT10 regulates adipogenesis via ascorbic acid-dependent DNA demethylation to benefit proper white adipose tissue development and protect mice against high-fat diet (HFD)-induced metabolic dysregulation. These findings suggest that SLC2A10 may be an important HFD-associated susceptibility locus for type 2 diabetes mellitus. | Glucose transporter 10 modulates adipogenesis via an ascorbic acid-mediated pathway to protect mice against diet-induced metabolic dysregulation. Jiang CL, Jen WP, Tsao CY, Chang LC, Chen CH, Lee YC., Free PMC Article | 08/1/2020 |
We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10 | 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. | 03/2/2019 |
We document a spectrum of ophthalmic manifestations of arterial tortuosity syndrome with universal findings of myopia, corneal thinning, and a propensity for corneal ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may develop keratectasia after corneal refractive surgery | Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. Hardin JS, Zarate YA, Callewaert B, Phillips PH, Warner DB. | 03/31/2018 |
GLUT10 is a dehydroascorbic acid (DAA) transporter and DAA transport is diminished in the endomembranes of fibroblasts from Arterial Tortuosity syndrome patients. | 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. | 05/7/2017 |
GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts | 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., Free PMC Article | 08/27/2016 |
100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene. Study expanded the allelic repertoire of SLC2A10 by identifying two novel mutations. | 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., Free PMC Article | 07/4/2015 |
Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) | Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, Tšernikova N, Luan J, Mihailov E, Ehret GB, Zhang W, Lamparter D, Esko T, Macé A, Rüeger S, Bochud PY, Barcella M, Dauvilliers Y, Benyamin B, Evans DM, Hayward C, Lopez MF, Franke L, Russo A, Heid IM, Salvi E, Vendantam S, Arking DE, Boerwinkle E, Chambers JC, Fiorito G, Grallert H, Guarrera S, Homuth G, Huffman JE, Porteous D, Generation Scotland Consortium, LifeLines Cohort study, GIANT Consortium, Moradpour D, Iranzo A, Hebebrand J, Kemp JP, Lammers GJ, Aubert V, Heim MH, Martin NG, Montgomery GW, Peraita-Adrados R, Santamaria J, Negro F, Schmidt CO, Scott RA, Spector TD, Strauch K, Völzke H, Wareham NJ, Yuan W, Bell JT, Chakravarti A, Kooner JS, Peters A, Matullo G, Wallaschofski H, Whitfield JB, Paccaud F, Vollenweider P, Bergmann S, Beckmann JS, Tafti M, Hastie ND, Cusi D, Bochud M, Frayling TM, Metspalu A, Jarvelin MR, Scherag A, Smith GD, Borecki IB, Rousson V, Hirschhorn JN, Rivolta C, Loos RJ, Kutalik Z., Free PMC Article | 02/14/2015 |
Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations. | 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. | 05/19/2012 |
Our data demonstrate that genetic polymorphism of the SLC2A10 gene is an independent risk factor for PAD in type 2 diabetes. | 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, Jiang YD, Chang YC, Chiu YF, Chang TJ, Li HY, Lin WH, Yuan HY, Chen YT, Chuang LM., Free PMC Articles: PMC2939510, PMC2939510 | 10/4/2010 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 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., Free PMC Article | 09/15/2010 |
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
analysis of a missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome | 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. | 01/21/2010 |
Patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry a novel non-sense mutationin in the SLC2A10 gene. | 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. | 01/21/2010 |
the c.243C>G mutation in the Middle Eastern families may have a common origin and shared ances | 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. | 01/21/2010 |
Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesSLC2A10 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, Jiang YD, Chang YC, Chiu YF, Chang TJ, Li HY, Lin WH, Yuan HY, Chen YT, Chuang LM. 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. 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, Lin WH, Chuang LM, Chen CH, Yeh JI, Hsieh PS, Cheng CH, Chen YT. 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. 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. Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits. Andersen G, Rose CS, Hamid YH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O, Andersen G, Rose CS, Hamid YH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O. | 03/13/2008 |
variation in the coding region of SLC2A10 does not contribute substantially to the pathogenesis of type 2 diabetes | Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits. Andersen G, Rose CS, Hamid YH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O, Andersen G, Rose CS, Hamid YH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O. | 01/21/2010 |
Complex regulatory mechanism of SLC2A10 expression through interaction of multiple transcription factors on basal promotor and prescence of distal repressor sequence suggests fine modulation of GLUT10 levels critical for glucose homeostasis. | Functional characterization of the promoter of the human glucose transporter 10 gene. Segade F, Allred DC, Bowden DW. | 01/21/2010 |
GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity | 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. | 01/21/2010 |
expression in adipose tissue | Expression of Class III facilitative glucose transporter genes (GLUT-10 and GLUT-12) in mouse and human adipose tissues. Wood IS, Hunter L, Trayhurn P. | 01/21/2010 |
SLC2A10 genetic variations do not appear to be major determinants for type 2 diabetes susceptibility in the Taiwanese population. | 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, Lin WH, Chuang LM, Chen CH, Yeh JI, Hsieh PS, Cheng CH, Chen YT. | 01/21/2010 |
The SLC2A10 gene encodes a glucose transporter and is located on chromosome 20q13, where evidence has been found for linkage to type 2 diabetes (T2D) in multiple studies. | Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns. Mohlke KL, Skol AD, Scott LJ, Valle TT, Bergman RN, Tuomilehto J, Boehnke M, Collins FS, FUSION Study Group. | 01/21/2010 |