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Page 1
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC, Alam SS, Kumar S, Jerome-Majewska LA. Beauchamp MC, et al. Dev Dyn. 2020 Aug;249(8):924-945. doi: 10.1002/dvdy.183. Epub 2020 May 21. Dev Dyn. 2020. PMID: 32315467 Free article. Review.
Mutations in core components of the spliceosome are responsible for a group of syndromes collectively known as spliceosomopathies. ...Mutations in eight genes SNRPB, RNU4ATAC, SF3B4, PUF60, EFTUD2, TXNL4, EIF4A3, and CWC27 are associated with craniofacial spliceosom …
Mutations in core components of the spliceosome are responsible for a group of syndromes collectively known as spliceosomopathies. .. …
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Wood KA, Rowlands CF, Thomas HB, Woods S, O'Flaherty J, Douzgou S, Kimber SJ, Newman WG, O'Keefe RT. Wood KA, et al. PLoS One. 2020 Jul 31;15(7):e0233582. doi: 10.1371/journal.pone.0233582. eCollection 2020. PLoS One. 2020. PMID: 32735620 Free PMC article.
The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1. The majority of affected individuals with BMKS have a 34 base pair deletion in the promoter …
The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicin …
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Wood KA, Ellingford JM, Thomas HB; Genomics UK Research Consortium; Douzgou S, Beaman GM, Hobson E, Prescott K, O'Keefe RT, Newman WG. Wood KA, et al. Clin Genet. 2022 Feb;101(2):255-259. doi: 10.1111/cge.14082. Epub 2021 Nov 5. Clin Genet. 2022. PMID: 34713892
BMKS is caused by biallelic variants in the pre-messenger RNA splicing factor TXNL4A. Most patients have a loss-of-function variant in trans with a 34-base pair (bp) deletion (type 1 delta34) in the promoter region. Here, we identified two patients with BMKS.
BMKS is caused by biallelic variants in the pre-messenger RNA splicing factor TXNL4A. Most patients have a loss-of-function va
A review of craniofacial disorders caused by spliceosomal defects.
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. Lehalle D, et al. Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1. Clin Genet. 2015. PMID: 25865758 Review.
The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. ...Given the apparent sensitivity of craniofacial development to defects in mRNA processing, it is possible that mutations in other proteins involved in sp
The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. ...Given the apparent sen …
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.
Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA. Goos JAC, et al. Eur J Hum Genet. 2017 Oct;25(10):1126-1133. doi: 10.1038/ejhg.2017.107. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905882 Free PMC article.
Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site vari …
Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of …
Characterization of a Plasmodium falciparum rRNA methyltransferase.
Gupta K, Gupta A, Habib S. Gupta K, et al. Mol Biochem Parasitol. 2018 Jul;223:13-18. doi: 10.1016/j.molbiopara.2018.06.001. Epub 2018 Jun 21. Mol Biochem Parasitol. 2018. PMID: 29909066
The ribosomal RNA adenine dimethyltransferases (rAD) of KsgA/Dim1 family are universally conserved with eukaryotic rADs separated into distinct cytosolic Dim1 and organellar KsgA/TFB homologs. ...The protein interacted specifically with small ribosomal …
The ribosomal RNA adenine dimethyltransferases (rAD) of KsgA/Dim1 family are universally conserved with eukaryotic rADs separated int …
Interactions and activities of factors involved in the late stages of human 18S rRNA maturation.
Sloan KE, Knox AA, Wells GR, Schneider C, Watkins NJ. Sloan KE, et al. RNA Biol. 2019 Feb;16(2):196-210. doi: 10.1080/15476286.2018.1564467. Epub 2019 Jan 13. RNA Biol. 2019. PMID: 30638116 Free PMC article.
We reveal that human RIO2 is an active kinase that phosphorylates both itself and the rRNA methyltransferase DIM1 in vitro. In contrast to yeast, our data confirm that human DIM1 predominantly acts in the nucleus and we further demonstrate that the 21S pre-rRNA is t …
We reveal that human RIO2 is an active kinase that phosphorylates both itself and the rRNA methyltransferase DIM1 in vitro. In contra …
Structure-Based Rational Design of Two Enhanced Bacterial Lipocalin Blc Tags for Protein-PAINT Super-resolution Microscopy.
Muslinkina L, Gavrikov AS, Bozhanova NG, Mishin AS, Baranov MS, Meiler J, Pletneva NV, Pletnev VZ, Pletnev S. Muslinkina L, et al. ACS Chem Biol. 2020 Sep 18;15(9):2456-2465. doi: 10.1021/acschembio.0c00440. Epub 2020 Sep 8. ACS Chem Biol. 2020. PMID: 32809793
Super-resolution fluorescent imaging in living cells remains technically challenging, largely due to the photodecomposition of fluorescent tags. The recently suggested protein-PAINT is the only super-resolution technique available for prolonged imaging of proteins i …
Super-resolution fluorescent imaging in living cells remains technically challenging, largely due to the photodecomposition of fluorescent t …
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin beta2 receptor.
Liu X, Dou LX, Han J, Zhang ZC. Liu X, et al. J Biol Chem. 2020 Mar 27;295(13):4093-4100. doi: 10.1074/jbc.RA119.012214. Epub 2020 Feb 10. J Biol Chem. 2020. PMID: 32041777 Free PMC article.
PQBP1 uses its C-terminal YxxPxxVL motif for binding to the splicing factor TXNL4A (thioredoxin like 4A), but the biological function of this interaction has yet to be elucidated. ...We further show that this interaction is critical for the subcellular …
PQBP1 uses its C-terminal YxxPxxVL motif for binding to the splicing factor TXNL4A (thioredoxin like 4A), but th …
A novel tp53-associated nomogram to predict the overall survival in patients with pancreatic cancer.
Liu X, Chen B, Chen J, Sun S. Liu X, et al. BMC Cancer. 2021 Mar 31;21(1):335. doi: 10.1186/s12885-021-08066-2. BMC Cancer. 2021. PMID: 33789615 Free PMC article.
A seven-gene signature was constructed: Risk score = (0.1254 ERRFI1) - (0.1365 IL6R) - (0.4400 PPP1R10) - (0.3397 PTOV1-AS2) + (0.1544 SCEL) - (0.4412 SSX2IP) - (0.2231 TXNL4A). Area Under Curves of 1-, 3-, and 5-year ROC curves were 0.731, 0.808, and 0.873 in the training …
A seven-gene signature was constructed: Risk score = (0.1254 ERRFI1) - (0.1365 IL6R) - (0.4400 PPP1R10) - (0.3397 PTOV1-AS2) + (0.1544 SCEL) …
19 results