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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T. Ruaud L, et al. Birth Defects Res. 2022 Jun;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15. Birth Defects Res. 2022. PMID: 35426486 Review.
BACKGROUND: The THOC6 protein is a component of the THO complex. It is involved in mRNA transcription, processing and nuclear export. Interestingly molecular biallelic loss-of-function variants of the THOC6 gene were identified in the Beaulieu-Boycott-Innes syndrome …
BACKGROUND: The THOC6 protein is a component of the THO complex. It is involved in mRNA transcription, processing and nuclear export. …
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). ...Defects in RNA nuclear export functions were not detected in biallelic THOC6 LOF human neural cells. Instead, mis-splicing was detected in human and …
THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). ...Defects in RNA n …
Identification and characterization of colorectal-cancer-associated SNPs on the SMAD7 locus.
Liu Z, Zhao Y, Song H, Miao H, Wang Y, Tu C, Fu T, Qin J, Du B, Qian M, Ren H. Liu Z, et al. J Cancer Res Clin Oncol. 2023 Dec;149(18):16659-16668. doi: 10.1007/s00432-023-05402-w. Epub 2023 Sep 18. J Cancer Res Clin Oncol. 2023. PMID: 37721570
This study screened functional SNPs (fSNPs) related to colorectal cancer through Reel-seq and obtained regulatory proteins on functional SNPs. ...We also identified allele-imbalanced binding of HNRNPK to rs8085824, H1-3 to rs12953717, THOC6 to rs7227023, and DDX21 t …
This study screened functional SNPs (fSNPs) related to colorectal cancer through Reel-seq and obtained regulatory proteins on functio …
Acylcarnitines promote gallbladder cancer metastasis through lncBCL2L11-THOC5-JNK axis.
Yang Y, Li H, Liu K, Zou L, Xiang S, Geng Y, Li X, Qiu S, Yang J, Cui X, Li L, Li Y, Li W, Yan S, Liu L, Wu X, Liu F, Wu W, Chen S, Liu Y. Yang Y, et al. J Transl Med. 2024 Mar 22;22(1):299. doi: 10.1186/s12967-024-05091-0. J Transl Med. 2024. PMID: 38519939 Free PMC article.
BACKGROUND: The progression of gallbladder cancer (GBC) is accompanied by abnormal fatty acid beta-oxidation (FAO) metabolism. ...LncBCL2L11 was identified in the joint analysis of highly metastatic cells and RNA sequencing data. LncBCl2L11 prevented the binding of THOC …
BACKGROUND: The progression of gallbladder cancer (GBC) is accompanied by abnormal fatty acid beta-oxidation (FAO) metabolism. ...Lnc …
THOC6 is a novel biomarker of glioma and a target of anti-glioma drugs: An analysis based on bioinformatics and molecular docking.
Wei C, Gao Y, Li P. Wei C, et al. Medicine (Baltimore). 2024 May 10;103(19):e37999. doi: 10.1097/MD.0000000000037999. Medicine (Baltimore). 2024. PMID: 38728502 Free PMC article.

We analyzed the mutation, location and expression profile of THOC6, revealing the network of THOC6 interaction with disease. Wilcoxon rank sum test showed that THOC6 is highly expressed in gliomas (P < 0.001). ...Molecular docking results showed that TH

…
We analyzed the mutation, location and expression profile of THOC6, revealing the network of THOC6 interaction with disease. W …
THOC5 complexes with DDX5, DDX17, and CDK12 to regulate R loop structures and transcription elongation rate.
Polenkowski M, Allister AB, Burbano de Lara S, Pierce A, Geary B, El Bounkari O, Wiehlmann L, Hoffmann A, Whetton AD, Tamura T, Tran DDH. Polenkowski M, et al. iScience. 2022 Dec 9;26(1):105784. doi: 10.1016/j.isci.2022.105784. eCollection 2023 Jan 20. iScience. 2022. PMID: 36590164 Free PMC article.
Importantly chromatin-associated THOC5 interacts with CDK12 (a modulator of transcription elongation) and RNA helicases DDX5, DDX17, and THOC6 only in slow polymerase II cells. The CDK12/THOC5 interaction promotes CDK12 recruitment to R-loops in a THOC6-dependent ma …
Importantly chromatin-associated THOC5 interacts with CDK12 (a modulator of transcription elongation) and RNA helicases DDX5, DDX17, and …
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J. Kumar R, et al. Front Mol Neurosci. 2020 Feb 11;13:12. doi: 10.3389/fnmol.2020.00012. eCollection 2020. Front Mol Neurosci. 2020. PMID: 32116545 Free PMC article.
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. ...
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental d …
Integrated Analysis of the Roles of RNA Binding Proteins and Their Prognostic Value in Clear Cell Renal Cell Carcinoma.
Wang B, Zhao H, Ni S, Ding B. Wang B, et al. J Healthc Eng. 2021 Jun 30;2021:5568411. doi: 10.1155/2021/5568411. eCollection 2021. J Healthc Eng. 2021. PMID: 34306592 Free PMC article. Retracted.
METHODS: We downloaded the RNA sequencing data of ccRCC from the Cancer Genome Atlas (TCGA) database and identified differently expressed RBPs in different tissues. ...In addition, 9 genes related to the prognosis of patients were selected, namely, RPL36A, THOC6, RN …
METHODS: We downloaded the RNA sequencing data of ccRCC from the Cancer Genome Atlas (TCGA) database and identified differently expre …