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    SIX6 SIX homeobox 6 [ Homo sapiens (human) ]

    Gene ID: 4990, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children.

    Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children.
    Lu SY, Zhang XJ, Wang YM, Yuan N, Kam KW, Chan PP, Tam PO, Yip WW, Young AL, Tham CC, Pang CP, Yam JC, Chen LJ.

    07/27/2023
    Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.

    Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.
    Lee YC, Lee MY, Shin HY., Free PMC Article

    01/11/2023
    Association of Polymorphisms at the SIX1/SIX6 Locus With Normal Tension Glaucoma in a Korean Population.

    Association of Polymorphisms at the SIX1/SIX6 Locus With Normal Tension Glaucoma in a Korean Population.
    Shin HY, Lee YC, Lee MY.

    09/17/2022
    Mutually exclusive epigenetic modification on SIX6 with hypermethylation for precancerous stage and metastasis emergence tracing.

    Mutually exclusive epigenetic modification on SIX6 with hypermethylation for precancerous stage and metastasis emergence tracing.
    Dong S, Yang Z, Xu P, Zheng W, Zhang B, Fu F, Mao Z, Yuan J, Chen H, Yu W., Free PMC Article

    07/16/2022
    Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.

    Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
    Panagiotou ES, Fernandez-Fuentes N, Farraj LA, McKibbin M, Elçioglu NH, Jafri H, Cerman E, Parry DA, Logan CV, Johnson CA, Inglehearn CF, Toomes C, Ali M., Free PMC Article

    06/18/2022
    SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.

    SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.
    Deepthi A, Fakhoury O, Daher M, Gambarini A, El-Hayek S, Megarbane A.

    09/4/2021
    SIX6 is a TAL1-regulated transcription factor in T-ALL and associated with inferior outcome.

    SIX6 is a TAL1-regulated transcription factor in T-ALL and associated with inferior outcome.
    Laukkanen S, Oksa L, Nikkilä A, Lahnalampi M, Parikka M, Seki M, Takita J, Degerman S, de Bock CE, Heinäniemi M, Lohi O.

    05/8/2021
    Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.

    Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.
    Charng J, Simcoe M, Sanfilippo PG, Allingham RR, Hewitt AW, Hammond CJ, Mackey DA, Yazar S., Free PMC Article

    12/12/2020
    Genetic prediction models for primary open-angle glaucoma: translational research.

    Genetic prediction models for primary open-angle glaucoma: translational research.
    Chen LJ, Pang CP, Tham CCY, Leung CKS.

    09/12/2020
    Results uncover the mechanism through which ceRNET_CC is regulated, identify novel roles for the six2/ceRNET_CC axis in regulating the stemness of breast cancer cells, and propose the possibility of targeting the six2/ceRNET_CC axis to inhibit breast cancer stem cell (CSC) traits.

    Transcriptional factor six2 promotes the competitive endogenous RNA network between CYP4Z1 and pseudogene CYP4Z2P responsible for maintaining the stemness of breast cancer cells.
    Zheng L, Guo Q, Xiang C, Liu S, Jiang Y, Gao L, Ni H, Wang T, Zhao Q, Liu H, Xing Y, Wang Y, Li X, Xi T., Free PMC Article

    05/16/2020
    This meta-analysis confirmed the association of rs10483727 and rs33912345 in SIX1-SIX6 with primary open-angle glaucoma (POAG).

    Association of Polymorphisms at the SIX1-SIX6 Locus With Primary Open-Angle Glaucoma.
    Lu SY, He ZZ, Xu JX, Yang C, Chen LJ, Gong B.

    12/14/2019
    The protein-coding SIX6 variant rs33912345, previously associated with primary open-angle glaucoma (POAG), has a functional effect on glaucoma-associated optic nerve head traits in Europeans.

    A Common Glaucoma-risk Variant of SIX6 Alters Retinal Nerve Fiber Layer and Optic Disc Measures in a European Population: The EPIC-Norfolk Eye Study.
    Khawaja AP, Chan MPY, Yip JLY, Broadway DC, Garway-Heath DF, Viswanathan AC, Luben R, Hayat S, Hauser MA, Wareham NJ, Khaw KT, Fortune B, Allingham RR, Foster PJ., Free PMC Article

    11/9/2019
    The BMP4- 152AA genotype might play role in the causation of congenital cataract, whereas BMP4-SIX6 V-N haplotype might play a protective role toward the development of congenital cataract and microphthalmia.

    Evaluating the association of bone morphogenetic protein 4-V152A and SIX homeobox 6-H141N polymorphisms with congenital cataract and microphthalmia in Western Indian population.
    Vidya NG, Vasavada AR, Rajkumar S., Free PMC Article

    10/19/2019
    In conclusion, this study confirmed the association between two genome wide association study single nucleotide polymorphisms in SIX6 (rs33912345 and rs10483727) and primary open-angle glaucoma (POAG).

    Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese.
    Rong SS, Lu SY, Matsushita K, Huang C, Leung CKS, Kawashima R, Usui S, Tam POS, Young AL, Tsujikawa M, Zhang M, Nishida K, Wiggs JL, Tham CC, Pang CP, Chen LJ.

    05/11/2019
    Mutation in SIX6 gene is associated with primary open angle glaucoma.

    Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma.
    Mohanty K, Dada R, Dada T.

    04/13/2019
    we confirmed that rs33912345 and rs10483727-the only known cpRNFLT susceptibility SNPs-showed the strongest association with cpRNFLT of those within the SIX1/SIX6 locus.

    Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study.
    Yoshikawa M, Yamashiro K, Nakanishi H, Miyata M, Miyake M, Hosoda Y, Tabara Y, Matsuda F, Yoshimura N, Nagahama Study Group., Free PMC Article

    01/12/2019
    The results suggest that SIX6 influences different stages of RGC differentiation and their survival; therefore, alteration in SIX6 function due to the risk allele may lead to cellular and molecular abnormalities.

    Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities.
    Teotia P, Van Hook MJ, Wichman CS, Allingham RR, Hauser MA, Ahmad I.

    06/9/2018
    We replicated the association of SNP rs10483727 in the SIX1/SIX6 locus with POAG in a Saudi cohort, suggesting its role in increasing susceptibility to Primary Open Angle Glaucoma .

    Polymorphism rs10483727 in the SIX1/SIX6 Gene Locus Is a Risk Factor for Primary Open Angle Glaucoma in a Saudi Cohort.
    Kondkar AA, Azad TA, Almobarak FA, Kalantan H, Sultan T, Alsabaani NA, Al-Obeidan SA, Abu-Amero KK.

    05/26/2018
    Among 8 SNPs in 3 loci that showed at least nominal association (P < 5.00E-02) in the primary cohort, a representative SNP for each loci (rs2157719 for CDKN2B-AS1, rs33912345 for SIX6, and rs9913911 for GAS7) were selected

    Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7.
    Shiga Y, Nishiguchi KM, Kawai Y, Kojima K, Sato K, Fujita K, Takahashi M, Omodaka K, Araie M, Kashiwagi K, Aihara M, Iwata T, Mabuchi F, Takamoto M, Ozaki M, Kawase K, Fuse N, Yamamoto M, Yasuda J, Nagasaki M, Nakazawa T, Japan Glaucoma Society Omics Group (JGS-OG)., Free PMC Article

    01/20/2018
    elevated expressions of SIX2, SIX4, and SIX6 predicted poor overall survival (OS) in NSCLC and poor relapse-free survival (RFS) in lung adenocarcinoma

    The expression profile and clinic significance of the SIX family in non-small cell lung cancer.
    Liu Q, Li A, Tian Y, Liu Y, Li T, Zhang C, Wu JD, Han X, Wu K., Free PMC Article

    12/2/2017
    study replicated the association of POAG with two SNPs at the SIX1-SIX6 locus and demonstrated that SNPs, rs10483727 and rs33912345, are significantly associated with POAG, especially with NTG in patients aged above 40 years

    Association of three single nucleotide polymorphisms at the SIX1-SIX6 locus with primary open angle glaucoma in the Chinese population.
    Sang J, Jia L, Zhao B, Wang H, Zhang N, Wang N.

    03/4/2017
    Six1 regulates p53 via a dual mechanism involving upregulation of microRNA-27a and downregulation of RPL26.

    The Six1 oncoprotein downregulates p53 via concomitant regulation of RPL26 and microRNA-27a-3p.
    Towers CG, Guarnieri AL, Micalizzi DS, Harrell JC, Gillen AE, Kim J, Wang CA, Oliphant MUJ, Drasin DJ, Guney MA, Kabos P, Sartorius CA, Tan AC, Perou CM, Espinosa JM, Ford HL., Free PMC Article

    05/14/2016
    Single nucleotide polymorphism in SIX6 gene is associated with primary open angle glaucoma.

    Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population.
    Philomenadin FS, Asokan R, N V, George R, Lingam V, Sarangapani S., Free PMC Article

    02/27/2016
    SIX6 and/or intraocular pressure promotes primary open-angle glaucoma by directly increasing p16INK4a expression.

    P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in Glaucoma.
    Skowronska-Krawczyk D, Zhao L, Zhu J, Weinreb RN, Cao G, Luo J, Flagg K, Patel S, Wen C, Krupa M, Luo H, Ouyang H, Lin D, Wang W, Li G, Xu Y, Li O, Chung C, Yeh E, Jafari M, Ai M, Zhong Z, Shi W, Zheng L, Krawczyk M, Chen D, Shi C, Zin C, Zhu J, Mellon PL, Gao W, Abagyan R, Zhang L, Sun X, Zhong S, Zhuo Y, Rosenfeld MG, Liu Y, Zhang K., Free PMC Article

    12/26/2015
    we report a homozygous missense mutation of SIX6 associated with a unique eye phenotype characterized by optic disc anomalies, macular atrophy, and coloboma of the iris and chorioretina.

    A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
    Yariz KO, Sakalar YB, Jin X, Hertz J, Sener EF, Akay H, Özbek MN, Farooq A, Goldberg J, Tekin M.

    09/26/2015
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