Isosomppi J - Search Results

1

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

Isosomppi J, Västinsalo H, Geller SF, Heon E, Flannery JG, Sankila EM. Isosomppi J, et al. Mol Vis. 2009 Sep 8;15:1806-18. Mol Vis. 2009. PMID: 19753315 Free PMC article.

2

Two Finnish USH1B patients with three novel mutations in myosin VIIA.

Vastinsalo H, Isosomppi J, Aittakorpi A, Sankila EM. Vastinsalo H, et al. Among authors: isosomppi j. Mol Vis. 2006 Sep 21;12:1093-7. Mol Vis. 2006. PMID: 17093394 Free article.

3

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).

Västinsalo H, Jalkanen R, Dinculescu A, Isosomppi J, Geller S, Flannery JG, Hauswirth WW, Sankila EM. Västinsalo H, et al. Among authors: isosomppi j. Eur J Hum Genet. 2011 Jan;19(1):30-5. doi: 10.1038/ejhg.2010.140. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717163 Free PMC article.

4

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.

Geller SF, Guerin KI, Visel M, Pham A, Lee ES, Dror AA, Avraham KB, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Triffo WJ, Bao S, Isosomppi J, Västinsalo H, Sankila EM, Flannery JG. Geller SF, et al. Among authors: isosomppi j. PLoS Genet. 2009 Aug;5(8):e1000607. doi: 10.1371/journal.pgen.1000607. Epub 2009 Aug 14. PLoS Genet. 2009. PMID: 19680541 Free PMC article.

5

Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.

Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J. Pietola L, et al. Among authors: isosomppi j. Otol Neurotol. 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. Otol Neurotol. 2012. PMID: 22143301

6

Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.

Tian G, Zhou Y, Hajkova D, Miyagi M, Dinculescu A, Hauswirth WW, Palczewski K, Geng R, Alagramam KN, Isosomppi J, Sankila EM, Flannery JG, Imanishi Y. Tian G, et al. Among authors: isosomppi j. J Biol Chem. 2009 Jul 10;284(28):18980-93. doi: 10.1074/jbc.M109.003160. Epub 2009 May 7. J Biol Chem. 2009. PMID: 19423712 Free PMC article.

7

Anti-clarin-1 AAV-delivered ribozyme induced apoptosis in the mouse cochlea.

Aarnisalo AA, Pietola L, Joensuu J, Isosomppi J, Aarnisalo P, Dinculescu A, Lewin AS, Flannery J, Hauswirth WW, Sankila EM, Jero J. Aarnisalo AA, et al. Among authors: isosomppi j. Hear Res. 2007 Aug;230(1-2):9-16. doi: 10.1016/j.heares.2007.03.004. Epub 2007 Apr 5. Hear Res. 2007. PMID: 17493778

8

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.

Isosomppi J, Vesa J, Jalanko A, Peltonen L. Isosomppi J, et al. Hum Mol Genet. 2002 Apr 15;11(8):885-91. doi: 10.1093/hmg/11.8.885. Hum Mol Genet. 2002. PMID: 11971870

9

Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.

Klockars T, Savukoski M, Isosomppi J, Peltonen L. Klockars T, et al. Among authors: isosomppi j. Mol Genet Metab. 1999 Apr;66(4):324-8. doi: 10.1006/mgme.1999.2832. Mol Genet Metab. 1999. PMID: 10191122

10

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.

Holmberg V, Jalanko A, Isosomppi J, Fabritius AL, Peltonen L, Kopra O. Holmberg V, et al. Among authors: isosomppi j. Neurobiol Dis. 2004 Jun;16(1):29-40. doi: 10.1016/j.nbd.2003.12.019. Neurobiol Dis. 2004. PMID: 15207259

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