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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. Hijazi H, et al. Am J Hum Genet. 2022 Dec 1;109(12):2270-2282. doi: 10.1016/j.ajhg.2022.10.007. Epub 2022 Nov 10. Am J Hum Genet. 2022. PMID: 36368327 Free PMC article.
Through local and international collaborations facilitated by GeneMatcher and Matchmaker Exchange, we have identified and herein report seven de novo variants involving TCEAL1 in seven unrelated families: three hemizygous truncating alleles; one hemizygous missense allele; …
Through local and international collaborations facilitated by GeneMatcher and Matchmaker Exchange, we have identified and herein report seve …
In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing enhances docetaxel efficacy in prostate cancer.
Rushworth LK, Harle V, Repiscak P, Clark W, Shaw R, Hall H, Bushell M, Leung HY, Patel R. Rushworth LK, et al. Life Sci Alliance. 2020 Oct 8;3(12):e202000770. doi: 10.26508/lsa.202000770. Print 2020 Dec. Life Sci Alliance. 2020. PMID: 33033111 Free PMC article.
We identified 17 candidate genes whose suppression may enhance the efficacy of docetaxel, with transcription elongation factor A-like 1 (Tceal1) as the top candidate. TCEAL1 function is not fully characterised; it may modulate transcription in a promoter dependent f …
We identified 17 candidate genes whose suppression may enhance the efficacy of docetaxel, with transcription elongation factor A-like 1 ( …
Genomic structure and chromosomal localization of TCEAL1, a human gene encoding the nuclear phosphoprotein p21/SIIR.
Pillutla RC, Shimamoto A, Furuichi Y, Shatkin AJ. Pillutla RC, et al. Genomics. 1999 Mar 1;56(2):217-20. doi: 10.1006/geno.1998.5705. Genomics. 1999. PMID: 10051408
Tissue-specific expression patterns of TCEAL1 by Northern blot analysis showed the presence of an approximately 1.2-kb transcript in all normal human tissues examined, and heart and skeletal muscle contained an additional transcript of approximately 7 kb. Expression was lo …
Tissue-specific expression patterns of TCEAL1 by Northern blot analysis showed the presence of an approximately 1.2-kb transcript in …
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS. Albuainain F, et al. Eur J Hum Genet. 2024 Mar;32(3):350-356. doi: 10.1038/s41431-023-01530-6. Epub 2024 Jan 10. Eur J Hum Genet. 2024. PMID: 38200082 Free PMC article.
Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1, identified through trio exome or genome sequencing, further delineating the phenotype of the TCEAL1-related disorder. ...Together this report …
Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1, identifi …
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.
Shimojima Yamamoto K, Itagaki Y, Tanaka K, Okamoto N, Yamamoto T. Shimojima Yamamoto K, et al. Hum Genome Var. 2024 May 15;11(1):20. doi: 10.1038/s41439-024-00278-9. Hum Genome Var. 2024. PMID: 38750072 Free PMC article.
However, the clinical features of the patient were consistent with those of TCEAL1 loss-of-function syndrome. The breakpoint junction was analyzed using long-read sequencing, and blunt-end fusion was confirmed....
However, the clinical features of the patient were consistent with those of TCEAL1 loss-of-function syndrome. The breakpoint junction …
A Radiosensitivity Prediction Model Developed Based on Weighted Correlation Network Analysis of Hypoxia Genes for Lower-Grade Glioma.
Du Z, Liu H, Bai L, Yan D, Li H, Peng S, Cao J, Liu SB, Tang Z. Du Z, et al. Front Oncol. 2022 Feb 25;12:757686. doi: 10.3389/fonc.2022.757686. eCollection 2022. Front Oncol. 2022. PMID: 35280808 Free PMC article.
Finally, 12 genes (AGK, ETV4, PARD6A, PTP4A2, RIOK3, SIGMAR1, SLC34A2, SMURF1, STK33, TCEAL1, TFPI, and UROS) were included in the model. A radiosensitivity-related risk score model was established based on the overall rate of The Cancer Genome Atlas (TCGA) dataset in pati …
Finally, 12 genes (AGK, ETV4, PARD6A, PTP4A2, RIOK3, SIGMAR1, SLC34A2, SMURF1, STK33, TCEAL1, TFPI, and UROS) were included in the mo …
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG. Labonne JD, et al. BMC Neurol. 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z. BMC Neurol. 2016. PMID: 27506666 Free PMC article.
Because the microdeletion encompasses only three genes, GLRA4, MORF4L2 and TCEAL1, we investigated their expression levels in various tissues by RT-qPCR and found that all three genes were highly expressed in whole human brain, fetal brain, cerebellum and hippocampus. When …
Because the microdeletion encompasses only three genes, GLRA4, MORF4L2 and TCEAL1, we investigated their expression levels in various …
Aberrant Methylation of the Imprinted C19MC and MIR371-3 Clusters in Patients with Non-Small Cell Lung Cancer.
Boyero L, Noguera-Uclés JF, Castillo-Peña A, Salinas A, Sánchez-Gastaldo A, Alonso M, Benedetti JC, Bernabé-Caro R, Paz-Ares L, Molina-Pinelo S. Boyero L, et al. Cancers (Basel). 2023 Feb 25;15(5):1466. doi: 10.3390/cancers15051466. Cancers (Basel). 2023. PMID: 36900258 Free PMC article.
From those negative correlations identified, we found that a lower expression of 5 of the target genes (FOXF2, KLF13, MICA, TCEAL1 and TGFBR2) was significantly associated with poor overall survival. ...
From those negative correlations identified, we found that a lower expression of 5 of the target genes (FOXF2, KLF13, MICA, TCEAL1 an …
Co-expression of genes with estrogen receptor-α and progesterone receptor in human breast carcinoma tissue.
Andres SA, Wittliff JL. Andres SA, et al. Horm Mol Biol Clin Investig. 2012 Dec;12(1):377-90. doi: 10.1515/hmbci-2012-0025. Horm Mol Biol Clin Investig. 2012. PMID: 25436697
Coordinate expression of EVL, NAT1, TBC1D9, SCUBE2, RABEP1, SLC39A6, TCEAL1, FUT8, XBP1, PTP4A2 or GATA3 with either ESR1 or PGR was detected. ...
Coordinate expression of EVL, NAT1, TBC1D9, SCUBE2, RABEP1, SLC39A6, TCEAL1, FUT8, XBP1, PTP4A2 or GATA3 with either ESR1 or PGR was …
32 results