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Juha Isosomppi

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Laura Pietola; Eeva-Marja Sankila; Hannu Valtonen; Juha-Pekka Vasama; Hanna Västinsalo; Antti A Aarnisalo; Akram Abdel-Rahman; Juha Isosomppi; Reijo Johansson; Erna Kentala; Heikki Löppönen; Jussi Jero
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.
Hanna Västinsalo; Reetta Jalkanen; Astra Dinculescu; Juha Isosomppi; Scott Geller; John G Flannery; William W Hauswirth; Eeva-Marja Sankila
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
Scott F Geller; Karen Guerin; Meike Visel; Aaron Pham; Edwin S Lee; Amiel A Dror; Karen B Avraham; Toshinori Hayashi; Catherine A Ray; Thomas A Reh; Olivia Bermingham-McDonogh; William J Triffo; Shaowen Bao; Juha Isosomppi; Hanna Västinsalo; Eeva-Marja Sankila; John G Flannery
CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.

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All Publications

2012: Laura Pietola; Eeva-Marja Sankila; Hannu Valtonen; Juha-Pekka Vasama; Hanna Västinsalo; Antti A Aarnisalo; Akram Abdel-Rahman; Juha Isosomppi; Reijo Johansson; Erna Kentala; Heikki Löppönen; Jussi Jero
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2012;33(1):38-41.
2011: Hanna Västinsalo; Reetta Jalkanen; Astra Dinculescu; Juha Isosomppi; Scott Geller; John G Flannery; William W Hauswirth; Eeva-Marja Sankila
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
European journal of human genetics : EJHG 2011;19(1):30-5.
2009: Scott F Geller; Karen Guerin; Meike Visel; Aaron Pham; Edwin S Lee; Amiel A Dror; Karen B Avraham; Toshinori Hayashi; Catherine A Ray; Thomas A Reh; Olivia Bermingham-McDonogh; William J Triffo; Shaowen Bao; Juha Isosomppi; Hanna Västinsalo; Eeva-Marja Sankila; John G Flannery
CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.
PLoS genetics 2009;5(8):e1000607.
2009: Guilian Tian; Yun Zhou; Dagmar Hajkova; Masaru Miyagi; Astra Dinculescu; William W Hauswirth; Krzysztof Palczewski; Ruishuang Geng; Kumar N Alagramam; Juha Isosomppi; Eeva-Marja Sankila; John G Flannery; Yoshikazu Imanishi
Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.
The Journal of biological chemistry 2009;284(28):18980-93.
2009: Juha Isosomppi; Hanna Västinsalo; Scott F Geller; Elise Heon; John G Flannery; Eeva-Marja Sankila
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Molecular vision 2009;15():1806-18.
2007: Antti A Aarnisalo; Laura Pietola; Jussi J Joensuu; Juha Isosomppi; Kishor Bhandari; Astra Dinculescu; A S Lewin; John G Flannery; William W Hauswirth; Eeva-Marja Sankila; Jussi Jero
Anti-clarin-1 AAV-delivered ribozyme induced apoptosis in the mouse cochlea.
Hearing research 2007;230(1-2):9-16.
2006: Reetta Jalkanen; Maija Mäntyjärvi; Rose Tobias; Juha Isosomppi; Eeva-Marja Sankila; Tiina Alitalo; N Torben Bech-Hansen
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
Journal of medical genetics 2006;43(8):699-704.
2006: Hanna Vastinsalo; Juha Isosomppi; Anne Aittakorpi; Eeva-Marja Sankila
Two Finnish USH1B patients with three novel mutations in myosin VIIA.
Molecular vision 2006;12():1093-7.
2004: Ville Holmberg; Anu Jalanko; Juha Isosomppi; Anna-Liisa Fabritius; Leena Peltonen; Outi Kopra
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.
Neurobiology of disease 2004;16(1):29-40.
2002: Jouni Vesa; Mark Chin; Kathrin Oelgeschläger; Juha Isosomppi; Esteban C DellAngelica; Anu Jalanko; Leena Peltonen
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
Molecular biology of the cell 2002;13(7):2410-20.
2002: Juha Isosomppi; Jouni Vesa; Anu Jalanko; Leena Peltonen
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
Human molecular genetics 2002;11(8):885-91.
1999: Juha Isosomppi; Outi Kopra; Jukka O Hiltunen; Nicholas D E Greene; Jouni Vesa; A Uusitalo; Hannah M Mitchison; Mart Saarma; Anu Jalanko; Leena Peltonen
Developmental expression of palmitoyl protein thioesterase in normal mice.
Brain research. Developmental brain research 1999;118(1-2):1-11.
1999: Juhani Rapola; Jaana Lähdetie; Juha Isosomppi; P Helminen; Maila Penttinen; Irma Järvelä
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
Prenatal diagnosis 1999;19(7):685-8.
1999: T Klockars; M Savukoski; Juha Isosomppi; Leena Peltonen
Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.
Molecular genetics and metabolism 1999;66(4):324-8.
1997: T Klockars; Juha Isosomppi; Maris Laan; N Kakko; Aarno Palotie; Leena Peltonen
The visual assignment of genes by fiber-fish: BTF3 protein homologue gene (BTF3) and a novel pseudogene of human RNA helicase A (DDX9P) on 13q22.
Genomics 1997;44(3):355-7.
1997: Kaisu Nikali; Juha Isosomppi; Tuula Lönnqvist; J I Mao; Anu Suomalainen; Leena Peltonen
Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24.
Genomics 1997;39(2):185-91.
1996: M Laan; Juha Isosomppi; T Klockars; Leena Peltonen; Aarno Palotie
Utilization of FISH in positional cloning: an example on 13q22.
Genome research 1996;6(10):1002-12.
1996: T Klockars; M Savukoski; Juha Isosomppi; M Laan; Irma Järvelä; K Petrukhin; Aarno Palotie; Leena Peltonen
Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.
Genomics 1996;35(1):71-8.