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Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250
METHODS: Clinical and molecular characterisation was performed on 17 patients with TNRC6B variants. Clinical data were obtained by retrospective chart review, parent interviews, direct patient interaction with providers and formal neuropsychological evaluation. ...Our data …
METHODS: Clinical and molecular characterisation was performed on 17 patients with TNRC6B variants. Clinical data were obtained by re …
Circular RNA circ-TNRC6B inhibits the proliferation and invasion of esophageal squamous cell carcinoma cells by regulating the miR-452-5p/DAG1 axis.
Xu R, Ding P, Zhao X, Li Z, Liu F, Gu L, Zheng Y, Sang M, Meng L. Xu R, et al. Mol Oncol. 2023 Jul;17(7):1437-1452. doi: 10.1002/1878-0261.13432. Epub 2023 Apr 16. Mol Oncol. 2023. PMID: 37014625 Free PMC article.
This study characterized a newly identified circRNA derived from exons 9-13 of TNRC6B (named circ-TNRC6B). The expression of circ-TNRC6B in ESCC tissues was markedly downregulated when compared to that in non-tumor tissues. ...Thus, circ-TNRC6B is a po …
This study characterized a newly identified circRNA derived from exons 9-13 of TNRC6B (named circ-TNRC6B). The expression of c …
Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B.
Bellido-Cuéllar S, Pérez de la Fuente R, Lezana-Rosales JM, Sánchez-Calvín MT, Saiz-Díaz RA, González de la Aleja J. Bellido-Cuéllar S, et al. Seizure. 2023 Aug;110:117-118. doi: 10.1016/j.seizure.2023.06.008. Epub 2023 Jun 10. Seizure. 2023. PMID: 37348364 No abstract available.
Circular RNA circABCC4 regulates lung adenocarcinoma progression via miR-3186-3p/TNRC6B axis.
Liu M, Wang P, Sui X, Ding F, Liu L, Gao Z, Cheng Z. Liu M, et al. J Cell Biochem. 2020 Oct;121(10):4226-4238. doi: 10.1002/jcb.29627. Epub 2020 Jan 21. J Cell Biochem. 2020. PMID: 31960988
Final rescue experiments further delineated that TNRC6B upregulation partially restored circABCC4 downregulation-mediated effect on LUAD progression. In sum, circABCC4 regulates LUAD progression via miR-3186-3p/TNRC6B axis....
Final rescue experiments further delineated that TNRC6B upregulation partially restored circABCC4 downregulation-mediated effect on L …
FOXA1-induced LINC01207 facilitates head and neck squamous cell carcinoma via up-regulation of TNRC6B.
Chen C, Jiang L, Zhang Y, Zheng W. Chen C, et al. Biomed Pharmacother. 2020 Aug;128:110220. doi: 10.1016/j.biopha.2020.110220. Epub 2020 May 22. Biomed Pharmacother. 2020. PMID: 32450521 Free article.
Then, we identified that transcription of both LINC01207 and TNRC6B was induced by FOXA1, which played a tumor facilitator role in HNSCC cells. In a word, present study uncovered a novel ceRNA mechanism of LINC01207/miR-5047/TNRC6B in HNSCC cells, which might contri …
Then, we identified that transcription of both LINC01207 and TNRC6B was induced by FOXA1, which played a tumor facilitator role in HN …
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, cafe-au-lait spots, and metabolic abnormality.
Yang Q, Ou S, Zhou X, Yi S, Lin L, Yi S, Zhang S, Qin Z, Luo J. Yang Q, et al. Mol Genet Genomic Med. 2024 Feb;12(2):e2408. doi: 10.1002/mgg3.2408. Mol Genet Genomic Med. 2024. PMID: 38404251 Free PMC article.
RESULTS: Here, we report two unrelated Chinese patients diagnosed with TNRC6B deficiency syndrome caused by novel de novo likely pathogenic or pathogenic TNRC6B variants c.335C>T (p.Pro112Leu) and c.1632delC (p.Leu546fs*63), which expands the genetic spectrum of …
RESULTS: Here, we report two unrelated Chinese patients diagnosed with TNRC6B deficiency syndrome caused by novel de novo likely path …
Association of BET1L and TNRC6B with uterine leiomyoma risk and its relevant clinical features in Han Chinese population.
Liu B, Wang T, Jiang J, Li M, Ma W, Wu H, Zhou Q. Liu B, et al. Sci Rep. 2018 May 9;8(1):7401. doi: 10.1038/s41598-018-25792-z. Sci Rep. 2018. PMID: 29743541 Free PMC article.
We aimed to replicate two initial significant genetic factors, TNRC6B and BET1L, in a Han Chinese population. A total of 2,055 study subjects were recruited, and 55 SNPs mapped to TNRC6B and BET1L were selected and genotyped in samples from these subjects. ...Both S …
We aimed to replicate two initial significant genetic factors, TNRC6B and BET1L, in a Han Chinese population. A total of 2,055 study …
BET1L and TNRC6B associate with uterine fibroid risk among European Americans.
Edwards TL, Michels KA, Hartmann KE, Velez Edwards DR. Edwards TL, et al. Hum Genet. 2013 Aug;132(8):943-53. doi: 10.1007/s00439-013-1306-3. Epub 2013 Apr 19. Hum Genet. 2013. PMID: 23604678 Free PMC article.
Two SNP associations replicated [blocked early in transport 1 homolog (BET1L) rs2280543, RFTS-BioVU meta-odds ratio (OR) = 0.67 95 % confidence interval (CI) 0.38-0.96, Q = 0.70, I = 0, p = 6.9 10-3; trinucleotide repeat containing 6B (TNRC6B) rs12484776, RFTS-BioVU meta-O …
Two SNP associations replicated [blocked early in transport 1 homolog (BET1L) rs2280543, RFTS-BioVU meta-odds ratio (OR) = 0.67 95 % confide …
The C-terminal domains of human TNRC6A, TNRC6B, and TNRC6C silence bound transcripts independently of Argonaute proteins.
Lazzaretti D, Tournier I, Izaurralde E. Lazzaretti D, et al. RNA. 2009 Jun;15(6):1059-66. doi: 10.1261/rna.1606309. Epub 2009 Apr 21. RNA. 2009. PMID: 19383768 Free PMC article.
We also show that TNRC6A, TNRC6B, and TNRC6C silence the expression of bound mRNAs. This activity is mediated by their C-terminal silencing domains, and thus, is independent of the interaction with AGO1-AGO4. Silencing by TNRC6A, TNRC6B, and TNRC6C is effected by ch …
We also show that TNRC6A, TNRC6B, and TNRC6C silence the expression of bound mRNAs. This activity is mediated by their C-terminal sil …
miRNA-Processing Gene Methylation and Cancer Risk.
Joyce BT, Zheng Y, Zhang Z, Liu L, Kocherginsky M, Murphy R, Achenbach CJ, Musa J, Wehbe F, Just A, Shen J, Vokonas P, Schwartz J, Baccarelli AA, Hou L. Joyce BT, et al. Cancer Epidemiol Biomarkers Prev. 2018 May;27(5):550-557. doi: 10.1158/1055-9965.EPI-17-0849. Epub 2018 Feb 23. Cancer Epidemiol Biomarkers Prev. 2018. PMID: 29475968 Free PMC article.

Associations at false discovery rate < 0.05 were considered statistically significant.Results: Methylation of three CpGs (DROSHA: cg23230564, TNRC6B: cg06751583, and TNRC6B: cg21034183) was prospectively associated with time to cancer development (positively for

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Associations at false discovery rate < 0.05 were considered statistically significant.Results: Methylation of three CpGs (DROSHA: cg23230

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71 results