Experts and Doctors on alternative splicing in Huddinge, Stockholm, Sweden


Locale: Huddinge, Stockholm, Sweden
Topic: alternative splicing

Top Publications

  1. Finta C, Zaphiropoulos P. The human cytochrome P450 3A locus. Gene evolution by capture of downstream exons. Gene. 2000;260:13-23 pubmed
    ..These findings may represent a generalized evolutionary process with genes having the potential to capture neighboring sequences and use them as functional exons. ..
  2. Shimokawa T, Rahnama F, Zaphiropoulos P. A novel first exon of the Patched1 gene is upregulated by Hedgehog signaling resulting in a protein with pathway inhibitory functions. FEBS Lett. 2004;578:157-62 pubmed
    ..Here, we show that in both human and mouse a novel PTCH1 first exon (1C) is expressed. Exon 1C transcription is upregulated by HH signaling, but the resulting PTCH1-1C protein has a lower capacity for pathway inhibition than PTCH1-1B. ..
  3. Shimokawa T, Tostar U, Lauth M, Palaniswamy R, Kasper M, Toftgard R, et al. Novel human glioma-associated oncogene 1 (GLI1) splice variants reveal distinct mechanisms in the terminal transduction of the hedgehog signal. J Biol Chem. 2008;283:14345-54 pubmed publisher
    ..Collectively, our findings reveal that the activation mechanism of the terminal transducer of the pathway, GLI1, is mediated not only by GLI1FL but also by the GLI1DeltaN variant. ..
  4. Swedenborg E, Power K, Cai W, Pongratz I, Rüegg J. Regulation of estrogen receptor beta activity and implications in health and disease. Cell Mol Life Sci. 2009;66:3873-94 pubmed publisher
    ..In this article, we outline different mechanisms of ER beta regulation and how they are implicated in various diseases. We also discuss how these insights might help to specifically target ER beta in drug design. ..
  5. Zaphiropoulos P. Differential expression of cytochrome P450 2C24 transcripts in rat kidney and prostate: evidence indicative of alternative and possibly trans splicing events. Biochem Biophys Res Commun. 1993;192:778-86 pubmed
    ..This implies that either the 2C24 gene is a nontypical P450 gene having exon 4 sequences both upstream and downstream of exon 2 or that trans splicing of canonical P450 2C24 primary transcripts occurs in these tissues. ..
  6. Zaphiropoulos P, Unden A, Rahnama F, Hollingsworth R, Toftgard R. PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. Cancer Res. 1999;59:787-92 pubmed
    ..This finding tightly links PTCH2 with the sonic hedgehog/PTCH signaling pathway, implying that PTCH2 has related, but yet distinct, functions than PTCH1. ..
  7. Rahnama F, Toftgard R, Zaphiropoulos P. Distinct roles of PTCH2 splice variants in Hedgehog signalling. Biochem J. 2004;378:325-34 pubmed
    ..We conclude that in spite of their structural similarities, the PTCH2 isoforms have distinct functional properties when compared with PTCH1. ..
  8. Shimokawa T, Svärd J, Heby Henricson K, Teglund S, Toftgard R, Zaphiropoulos P. Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling. Oncogene. 2007;26:4889-96 pubmed
    ..Thus, our study supports a role of splicing variation and promoter choice for HH signaling regulation. ..
  9. Rodriguez S, Coppede F, Sagelius H, Eriksson M. Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. Eur J Hum Genet. 2009;17:928-37 pubmed publisher
    ..This study provides a new method for LMNA transcript analysis and insights into the expression of the LMNA gene in HGPS and normal cells. ..

More Information


  1. Damdimopoulou P, Miranda Vizuete A, Arner E, Gustafsson J, Damdimopoulos A. The human thioredoxin reductase-1 splice variant TXNRD1_v3 is an atypical inducer of cytoplasmic filaments and cell membrane filopodia. Biochim Biophys Acta. 2009;1793:1588-96 pubmed publisher
    ..We conclude that the glutaredoxin domain of TXNRD1_v3 is an atypical regulator of the cell cytoskeleton that potently induces formation of highly ordered cytoplasmic filaments and cell membrane filopodia. ..
  2. Palaniswamy R, Teglund S, Lauth M, Zaphiropoulos P, Shimokawa T. Genetic variations regulate alternative splicing in the 5' untranslated regions of the mouse glioma-associated oncogene 1, Gli1. BMC Mol Biol. 2010;11:32 pubmed publisher
    ..Our findings implicate novel, genome-based mechanisms as regulators of the terminal events in the mouse HH signaling cascade. ..
  3. Rodríguez S, Grochova D, McKenna T, Borate B, Trivedi N, Erdos M, et al. Global genome splicing analysis reveals an increased number of alternatively spliced genes with aging. Aging Cell. 2016;15:267-78 pubmed publisher
    ..Our results indicate the existence of a mechanism for increased AS during aging in several tissues, emphasizing that AS has a more important role in the aging process than previously known. ..