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1 to 25 of 26  Show
  1. 1
    "The sequence of the human genome."
    Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H.
    , Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J., Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J., McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C., Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M., Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C., Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K., Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R., Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P., Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y., Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N., Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B., Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J., Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W., Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S., Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T., Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I., Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L., Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L., Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C., Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C., Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D., McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B., Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S., Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S., Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R., Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B., Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S., Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S., Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J., Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M., Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S., Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M., Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J., Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.
    Science 291:1304-1351(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 8178 other entries.

  2. 2
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).
  3. 3
    "Clone and bioinformatics analysis on the coding region of c20orf54 gene."
    Huang Z.G., Hong Q.N., Lun J.X., Lin W., Yang W., Deng Q.L., He Z., Lai Y.X., Xing J.M., Liu Y.Q.
    Submitted (AUG-2012) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).
  4. 4
    "Identification and functional characterization of rat riboflavin transporter 2."
    Yamamoto S., Inoue K., Ohta K.Y., Fukatsu R., Maeda J.Y., Yoshida Y., Yuasa H.
    J. Biochem. 145:437-443(2009) [PubMed] [Europe PMC] [Abstract]
    Annotation: Discusses cloning of rat riboflavin transporter 2 and identification of a comparable protein in human.Imported.
    Source: GeneRIF:113278.

    This publication is cited by 2 and mapped to 1 other entries.

  5. 5
    "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54."
    Green P., Wiseman M., Crow Y.J., Houlden H., Riphagen S., Lin J.P., Raymond F.L., Childs A.M., Sheridan E., Edwards S., Josifova D.J.
    Am. J. Hum. Genet. 86:485-489(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: identified a candidate gene C20orf54 in a consanguineous family with Brown-Vialetto-Van Laere syndrome with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other unrelated familiesImported.
    Source: GeneRIF:113278.
  6. 6
    "Functional characteristics of the human ortholog of riboflavin transporter 2 and riboflavin-responsive expression of its rat ortholog in the small intestine indicate its involvement in riboflavin absorption."
    Fujimura M., Yamamoto S., Murata T., Yasujima T., Inoue K., Ohta K.Y., Yuasa H.
    J. Nutr. 140:1722-1727(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: results indicate that riboflavin transporter 2(RFT2) is a transporter involved in the epithelial uptake of riboflavin in the small intestine for its nutritional utilizationImported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  7. 7
    Annotation: Susceptibility loci at C20orf54 for esophageal squamous cell carcinoma; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 5 other entries.

  8. 8
    "Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells."
    Subramanian V.S., Rapp L., Marchant J.S., Said H.M.
    Am. J. Physiol. 301:G100-G109(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: These results demonstrate a potential role for specific cysteine residues in the cell surface expression of riboflavin transporter 2 in human intestinal epithelial cells.Imported.
    Source: GeneRIF:113278.
  9. 9
    "Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)."
    Nabokina S.M., Subramanian V.S., Said H.M.
    Mol. Genet. Metab. 105:652-657(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: Mutations of riboflavin transporter-2 gene is associated with Brown-Vialetto-Van Laere syndrome.Imported.
    Source: GeneRIF:113278.
  10. 10
    "Functional SNPs in human C20orf54 gene influence susceptibility to esophageal squamous cell carcinoma."
    Ji A., Wang J., Yang J., Wei Z., Lian C., Ma L., Ma L., Chen J., Qin X., Wang L.d., Wei W.
    Asian Pac. J. Cancer Prev. 12:3207-3212(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: Single nucleotide polymorphism in C20orf54 gene is associated with esophageal squamous cell carcinoma.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  11. 11
    "Functional single nucleotide polymorphism in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma."
    Wei W., Ji A., Wang J., Wei Z., Lian C., Yang J., Ma L., Ma L., Qin X., Wang L.D.
    Dis. Esophagus 26:97-103(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: RFT2 protein functional single nucleotide polymorphism might be associated with the development of esophageal squamous cell carcinoma.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  12. 12
    "Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients."
    Dezfouli M.A., Yadegari S., Nafissi S., Elahi E.
    J. Hum. Genet. 57:613-617(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: Identification of novel mutations that affect amino acid changes in Brown-Vialetto-Van Laere syndrome patients.Imported.
    Source: GeneRIF:113278.
  13. 13
    "Decreased blood riboflavin levels are correlated with defective expression of RFT2 gene in gastric cancer."
    Eli M., Li D.S., Zhang W.W., Kong B., Du C.S., Wumar M., Mamtimin B., Sheyhidin I., Hasim A.
    World J. Gastroenterol. 18:3112-3118(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: Defective expression of RFT2 is associated with the development of gastric carcinoma and may result in decreased plasma riboflavin levels in GC.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  14. 14
    "Association of the plasma riboflavin levels and riboflavin transporter (C20orf54) gene statuses in Kazak esophageal squamous cell carcinoma patients."
    Ainiwaer J., Tuerhong A., Hasim A., Chengsong D., Liwei Z., Sheyhidin I.
    Mol. Biol. Rep. 40:3769-3775(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: Defective expression of C20orf54 is associated with the development of Kazak esophageal squamous cell carcinoma and this may represent a mechanism underlying the decreased plasma riboflavin levels in ESCC.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  15. 15
    "Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine."
    Subramanian V.S., Ghosal A., Subramanya S.B., Lytle C., Said H.M.
    Am. J. Physiol. Gastrointest. Liver Physiol. 304:G741-8(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: Intestinal riboflavin uptake process undergoes differentiation-dependent upregulation and suggest that this is mediated (at least in part) via transcriptional mechanisms of SLC52A1 and SLC52A3.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 4 other entries.

  16. 16
    "Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52."
    Yonezawa A., Inui K.
    Mol. Aspects Med. 34:693-701(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: summary of recent findings on the cloning nomenclature functional characterization and genetic diseases of RFVT1/SLC52A1 RFVT2/SLC52A2 and RFVT3/SLC52A3 [review]Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 7 other entries.

  17. 17
    "Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome."
    Nalini A., Pandraud A., Mok K., Houlden H.
    J. Neurol. Sci. 334:119-122(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 7 other entries.

  18. 18
    "Replication of results of genome-wide association studies on esophageal squamous cell carcinoma susceptibility loci in a Korean population."
    Piao J.M., Shin M.H., Kim H.N., Song H.R., Kweon S.S., Choi J.S., Shim H.J., Hwang J.E., Bae W.K., Kim S.H., Choi Y.D., Cui L.H.
    Dis. Esophagus 27:798-801(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: the single-nucleotide polymorphism rs13042395 in C20orf54 showed a significantly lower risk of esophageal squamous cell carcinoma in the younger age group but no significant association in the older group in a Korean population.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 5 other entries.

  19. 19
    "Association of the plasma and tissue riboflavin levels with C20orf54 expression in cervical lesions and its relationship to HPV16 infection."
    Aili A., Hasim A., Kelimu A., Guo X., Mamtimin B., Abudula A., Upur H.
    PLoS ONE 8:e79937-e79937(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: C20orf54 expression were significantly up-regulated in CSCC.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  20. 20
    "Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption."
    Yoshimatsu H., Yonezawa A., Yao Y., Sugano K., Nakagawa S., Omura T., Matsubara K.
    Am. J. Physiol. 306:G102-G110(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: These results strongly suggest that RFVT3 would functionally be involved in riboflavin absorption in the apical membranes of intestinal epithelial cellsImported.
    Source: GeneRIF:113278.

    This publication is cited by 1 other entry.

  21. 21
    "Epigenetic regulation of human riboflavin transporter 2(hRFT2) in cervical cancers from Uighur women."
    Ma J.Q., Kurban S., Zhao J.D., Li Q.Z., Hasimu A.
    Asian Pac. J. Cancer Prev. 15:2485-2489(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: Increase in methylation of CpG 2 and CpG 3 in hRFT2gene promoter region is associated with the genesis of cervical squamous cell carcinoma.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  22. 22
    "RFT2 is overexpressed in esophageal squamous cell carcinoma and promotes tumorigenesis by sustaining cell proliferation and protecting against cell death."
    Jiang X.R., Yu X.Y., Fan J.H., Guo L., Zhu C., Jiang W., Lu S.H.
    Cancer Lett. 353:78-86(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: Results suggest that RFT2 contributes to esophageal squamous cell carcinoma tumorigenesis and may serve as a potential therapeutic target.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  23. 23
    "Identification and characterization of the minimal 5'-regulatory region of the human riboflavin transporter-3 (SLC52A3) in intestinal epithelial cells."
    Ghosal A., Sabui S., Said H.M.
    Am. J. Physiol., Cell Physiol. 308:C189-96(2015) [PubMed] [Europe PMC] [Abstract]
    Annotation: Binding of Sp1 to the minimal SLC52A3 promoter.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  24. 24
    "The functional SNP rs3746804 in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma."
    Ji A., Ma L., Yang J., Xu Y., Wang J., Lian C., Wang Y., Li D., Dong W.L., Wu W.
    Oncol Res Treat 37:654-657(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: A close association exists between functional SNP rs3746804 in C20orf54 and susceptibility to esophageal squamous cell carcinomaImported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

  25. 25
    "Esophageal Squamous Cell Carcinoma and Gastric Cardia Adenocarcinoma Shared Susceptibility Locus in C20orf54: Evidence from Published Studies."
    Duan F., Cui S., Song C., Zhao X., Dai L., Shen Y.
    Sci Rep 5:11961-11961(2015) [PubMed] [Europe PMC] [Abstract]
    Annotation: C20orf54 rs13042395 polymorphism was significantly associated with decreased ESCC and GCA risk especially for the subjects with under-weight or normal.Imported.
    Source: GeneRIF:113278.

    This publication is mapped to 1 other entry.

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