Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Saija Ahonen"'
Autor:
Julie Hathaway, Johanna Huusko, Marcos Cicerchia, Saija Ahonen, Johanna Tommiska, Kim Gall, Khalida Liaquat, Victoria Howell, Allison Sluyters, Janica Djupsjöbacka, Mikko Muona, Inka Saarinen, Eija Seppala, Tiia Kangas-Kontio, Lotta Koskinen, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101483- (2024)
Externí odkaz:
https://doaj.org/article/a822691791e947248e642611c8d63849
Autor:
Krista Heliö, Mikko I. Mäyränpää, Inka Saarinen, Saija Ahonen, Heidi Junnila, Johanna Tommiska, Sini Weckström, Miia Holmström, Mia Toivonen, Kjell Nikus, Julie Hathaway, Pauli Siivonen, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Familial dilated cardiomyopathy (DCM) is a monogenic disorder typically inherited in an autosomal dominant pattern. We have identified two Finnish families with familial cardiomyopathy that is not explained by a variant in any previously
Externí odkaz:
https://doaj.org/article/1aa59acef3044845853059e28698c9e3
Autor:
Saija Ahonen, Ian Seath, Clare Rusbridge, Susan Holt, Gill Key, Travis Wang, Peixiang Wang, Berge A. Minassian
Publikováno v:
Canine Medicine and Genetics, Vol 8, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/47688ab0d4f541f38d2204172f4213b7
Autor:
Juha W Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H Seppälä, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Heliö, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H Ojala, Ville Vepsäläinen, Ville Kytölä, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö
Publikováno v:
PLoS ONE, Vol 16, Iss 2, p e0245681 (2021)
BackgroundFamilial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive genetic testing are left without mole
Externí odkaz:
https://doaj.org/article/81628bdf5aaa4625b9953c9f6ecf95db
Autor:
Maria Kaukonen, Sean Woods, Saija Ahonen, Seppo Lemberg, Maarit Hellman, Marjo K. Hytönen, Perttu Permi, Tom Glaser, Hannes Lohi
Publikováno v:
Cell Reports, Vol 23, Iss 9, Pp 2643-2652 (2018)
Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP
Externí odkaz:
https://doaj.org/article/19030cb9d7154372b571c14092bec77c
Autor:
Saija Ahonen, Ian Seath, Clare Rusbridge, Susan Holt, Gill Key, Travis Wang, Peixiang Wang, Berge A. Minassian
Publikováno v:
Canine Genetics and Epidemiology, Vol 5, Iss 1, Pp 1-9 (2018)
Abstract Background Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies. In addition, information obtained from testing of hundreds dogs in one
Externí odkaz:
https://doaj.org/article/ded1efa9f95e4e6b8e3ce12f4f77a2b9
Autor:
Thilo von Klopmann, Saija Ahonen, Irene Espadas-Santiuste, Kaspar Matiasek, Daniel Sanchez-Masian, Stefan Rupp, Helene Vandenberghe, Jeremy Rose, Travis Wang, Peixiang Wang, Berge Arakel Minassian, Clare Rusbridge
Publikováno v:
Life, Vol 11, Iss 7, p 689 (2021)
Canine Lafora disease is a recessively inherited, rapidly progressing neurodegenerative disease caused by the accumulation of abnormally constructed insoluble glycogen Lafora bodies in the brain and other tissues due to the loss of NHL repeat contain
Externí odkaz:
https://doaj.org/article/571134d3e5474292a3df9d9d222b80e8
Autor:
Reetta L. Hänninen, Saija Ahonen, Merce Màrquez, Maarit J. Myöhänen, Marjo K. Hytönen, Hannes Lohi
Publikováno v:
Biology Open, Vol 4, Iss 10, Pp 1253-1258 (2015)
Mitochondrial DNA depletion syndromes (MDS) are often serious autosomal recessively inherited disorders characterized by tissue-specific mtDNA copy number reduction. Many genes, including MPV17, are associated with the hepatocerebral form of MDS. MPV
Externí odkaz:
https://doaj.org/article/7cb82df6c3a54b7e8458f7a4bc455c4c
Autor:
Richard Everson, Louise Pettitt, Oliver P Forman, Olivia Dower-Tylee, Bryan McLaughlin, Saija Ahonen, Maria Kaukonen, András M Komáromy, Hannes Lohi, Cathryn S Mellersh, Jane Sansom, Sally L Ricketts
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0183021 (2017)
The domestic dog segregates a significant number of inherited progressive retinal diseases, several of which mirror human retinal diseases and which are collectively termed progressive retinal atrophy (PRA). In 2014, a novel form of PRA was reported
Externí odkaz:
https://doaj.org/article/873c6725aaf14efea311625277834d7f
Autor:
Lindsay Swain, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang, Cameron Ackerley, Berge A Minassian, Clare Rusbridge
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0182024 (2017)
Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of a
Externí odkaz:
https://doaj.org/article/db6208d0c6f74e718870967eede30f00