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2008 2
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2013 2
2014 1
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2020 5
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2023 7
2024 3

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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.
Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Zheng Y, McCarroll SA, Loh PR. Mukamel RE, et al. Science. 2021 Sep 24;373(6562):1499-1505. doi: 10.1126/science.abg8289. Epub 2021 Sep 23. Science. 2021. PMID: 34554798 Free PMC article.
Accounting for large-effect VNTRs further enabled fine-mapping of associations to many more protein-coding mutations in the same genes. These results point to cryptic effects of highly polymorphic common structural variants that have eluded molecular analyses to date....
Accounting for large-effect VNTRs further enabled fine-mapping of associations to many more protein-coding mutations in the same genes …
Association analysis for SNPs of KRT26 and TCHH genes with cashmere production performance, body measurement traits and milk production traits in Liaoning cashmere goats.
Xu Y, Zhang X, Hui T, Sun J, Cai W, Lin G, Wang L, Dou X, Wang Z, Han D, Wang J, Zhang Y, Qin Y, Gu M, Bai Z, Sun Y, Wu Y, Chen R, Wang Z. Xu Y, et al. Anim Biotechnol. 2023 Jun;34(3):698-708. doi: 10.1080/10495398.2021.1996386. Epub 2021 Nov 8. Anim Biotechnol. 2023. PMID: 34747683
The aim of this study was to investigate the relationship between KRT26 and TCHH gene polymorphism and production performance in Liaoning cashmere goats (LCG). The potential single nucleotide polymorphisms (SNPs) of LCG were detected by sequence alignment and PCR-Se …
The aim of this study was to investigate the relationship between KRT26 and TCHH gene polymorphism and production performance …
TCHH as a Novel Prognostic Biomarker for Patients with Gastric Cancer by Bioinformatics Analysis.
Yu F, Zhao LX, Chu S. Yu F, et al. Clin Exp Gastroenterol. 2024 Feb 26;17:61-74. doi: 10.2147/CEG.S451676. eCollection 2024. Clin Exp Gastroenterol. 2024. PMID: 38434179 Free PMC article.
Furthermore, measures of immune cell infiltration in gastric cancer were made, and studies of gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment were also carried out to investigate the possible roles of TCHH in patients with gas …
Furthermore, measures of immune cell infiltration in gastric cancer were made, and studies of gene ontology (GO) and Kyoto Encycloped …
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. Wu S, et al. Hum Genet. 2016 Nov;135(11):1279-1286. doi: 10.1007/s00439-016-1718-y. Epub 2016 Aug 3. Hum Genet. 2016. PMID: 27487801
A recent genome-wide scan found common variants in the Trichohyalin (TCHH) gene that are associated with hair straightness in Europeans, but different genes might affect this phenotype in other populations. ...We found no significant interaction between EDAR …
A recent genome-wide scan found common variants in the Trichohyalin (TCHH) gene that are associated with hair straightness in …
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, et al. Am J Hum Genet. 2009 Nov;85(5):750-5. doi: 10.1016/j.ajhg.2009.10.009. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896111 Free PMC article.
All three samples showed evidence of association implicating the Trichohyalin gene (TCHH), which is expressed in the developing inner root sheath of the hair follicle, and explaining approximately 6% of variance (p=1.5x10(-31)). ...
All three samples showed evidence of association implicating the Trichohyalin gene (TCHH), which is expressed in the developin …
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. Lv J, et al. Dis Colon Rectum. 2023 Nov 1;66(11):1481-1491. doi: 10.1097/DCR.0000000000002734. Epub 2023 Aug 29. Dis Colon Rectum. 2023. PMID: 37643197
Patients with deficient mismatch repair/microsatellite instability-high colon cancer had higher mutational frequencies of MKI67 , TPR , and TCHH than patients with microsatellite stable colon cancer. MKI67 , TPR , TCHH , and gene combination were significantl …
Patients with deficient mismatch repair/microsatellite instability-high colon cancer had higher mutational frequencies of MKI67 , TPR , and …
Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans.
Pośpiech E, Karłowska-Pik J, Marcińska M, Abidi S, Andersen JD, Berge MVD, Carracedo Á, Eduardoff M, Freire-Aradas A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W; EUROFORGEN-NoE Consortium. Pośpiech E, et al. Forensic Sci Int Genet. 2015 Nov;19:280-288. doi: 10.1016/j.fsigen.2015.09.004. Epub 2015 Sep 14. Forensic Sci Int Genet. 2015. PMID: 26414620
The only genome-wide association study made to date revealed the Trichohyalin gene (TCHH) to be significantly associated with hair morphology in Europeans and reported weaker associations for WNT10A and FRAS1 genes. ...Additionally, an independent test set of …
The only genome-wide association study made to date revealed the Trichohyalin gene (TCHH) to be significantly associated with …
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC. Basmanav FB, et al. JAMA Dermatol. 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. JAMA Dermatol. 2022. PMID: 36044230 Free PMC article.
RESULTS: The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). ... …
RESULTS: The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carri …
VolcanoFinder: Genomic scans for adaptive introgression.
Setter D, Mousset S, Cheng X, Nielsen R, DeGiorgio M, Hermisson J. Setter D, et al. PLoS Genet. 2020 Jun 18;16(6):e1008867. doi: 10.1371/journal.pgen.1008867. eCollection 2020 Jun. PLoS Genet. 2020. PMID: 32555579 Free PMC article.
Finally, we implement VolcanoFinder to detect archaic introgression in European and sub-Saharan African human populations, and uncovered interesting candidates in both populations, such as TSHR in Europeans and TCHH-RPTN in Africans. We discuss their biological implication …
Finally, we implement VolcanoFinder to detect archaic introgression in European and sub-Saharan African human populations, and uncovered int …
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. Petrova A, et al. Stem Cells Dev. 2016 Sep 15;25(18):1366-75. doi: 10.1089/scd.2016.0156. Epub 2016 Aug 30. Stem Cells Dev. 2016. PMID: 27460132 Free PMC article.
Analysis of the epidermal differentiation complex, a region on chromosome 1 that contains multiple genes involved in skin barrier maturation (including trichohyalin, TCHH), found that in one of the iPSC clones (iKCL004), TCHH retained a DNA methylation signat …
Analysis of the epidermal differentiation complex, a region on chromosome 1 that contains multiple genes involved in skin barrier mat …
37 results