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    TCHH trichohyalin [ Homo sapiens (human) ]

    Gene ID: 7062, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III.

    Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III.
    Lv J, Li W, Wang X, Guo L, Wang D, Zhang Y, Yu J, Chen T, Niu B, Wang X, Liu Z.

    11/1/2023
    Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer.

    Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer.
    Chen S, Liu T, Bu D, Zhu J, Wang X, Pan Y, Liu Y, Lu ZJ, Wang P.

    09/25/2021
    The difference between the twoinduced pluripotent stem cell(IPSC) clones in TCHH methylation did not have an obvious effect on its expression in 3D human epidermal equivalent, suggesting that differentiation and tissue formation may mitigate variations in the iPSC methylome.

    Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.
    Petrova A, Capalbo A, Jacquet L, Hazelwood-Smith S, Dafou D, Hobbs C, Arno M, Farcomeni A, Devito L, Badraiq H, Simpson M, McGrath JA, Di WL, Cheng JB, Mauro TM, Ilic D., Free PMC Article

    09/16/2017
    The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation.

    Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
    Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC., Free PMC Article

    05/27/2017
    To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 x 10(-12)) and TCHH (rs11803731: P = 1.46 x 10(-3)) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575).

    Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations.
    Wu S, Tan J, Yang Y, Peng Q, Zhang M, Li J, Lu D, Liu Y, Lou H, Feng Q, Lu Y, Guan Y, Zhang Z, Jiao Y, Sabeti P, Krutmann J, Tang K, Jin L, Xu S, Wang S.

    05/20/2017
    Data suggest that an immune response to trichohyalin and K16 may have a role in the pathogenesis of the enigmatic disorder.

    Trichohyalin is a potential major autoantigen in human alopecia areata.
    Leung MC, Sutton CW, Fenton DA, Tobin DJ.

    10/30/2010
    Observational study of gene-disease association. (HuGE Navigator)

    Web-based, participant-driven studies yield novel genetic associations for common traits.
    Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J., Free PMC Article

    09/15/2010
    BMP-4 signalling activates AHF transcription in hair follicles.

    Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.
    Yamamoto S, Hirai K, Hasegawa-Oka Y, Hirai Y, Yamamoto S, Hirai K, Hasegawa-Oka Y, Hirai Y.

    01/21/2010
    Common variants in the TCHH gene are associated with straight hair in Europeans.

    Common variants in the trichohyalin gene are associated with straight hair in Europeans.
    Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG, Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG., Free PMC Articles: PMC2775823, PMC2775823

    01/21/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    Common variants in the trichohyalin gene are associated with straight hair in Europeans.
    Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG, Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG., Free PMC Articles: PMC2775823, PMC2775823

    12/2/2009
    In human keratinocytes, we found BMP-4 facilitates trichohyalin (THH) transcription, and lamin C plays a key role in the posttranslational stabilization of THH.

    Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.
    Yamamoto S, Hirai K, Hasegawa-Oka Y, Hirai Y, Yamamoto S, Hirai K, Hasegawa-Oka Y, Hirai Y.

    01/21/2010
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