Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Eija H Seppälä"'
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:
Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic etiology. Genetic diagnosis provides potential for etiologically-based management and treatment. Existing research has focused on early-onset (
Externí odkaz:
https://doaj.org/article/0f7f4798607340f6af812a41cc79a33b
Autor:
Sari U M Vanninen, Krista Leivo, Eija H Seppälä, Katriina Aalto-Setälä, Olli Pitkänen, Piia Suursalmi, Antti-Pekka Annala, Ismo Anttila, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M Heliö, Juha W Koskenvuo
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0203422 (2018)
During the last two decades, mutations in sarcomere genes have found to comprise the most common cause for hypertrophic cardiomyopathy (HCM), but still significant number of patients with dominant HCM in the family are left without molecular genetic
Externí odkaz:
https://doaj.org/article/765d72e811124334bbea1b6ce84f4113
Autor:
Maria Wilbe, Sergey V Kozyrev, Fabiana H G Farias, Hanna D Bremer, Anna Hedlund, Gerli R Pielberg, Eija H Seppälä, Ulla Gustafson, Hannes Lohi, Örjan Carlborg, Göran Andersson, Helene Hansson-Hamlin, Kerstin Lindblad-Toh
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005248 (2015)
The complexity of clinical manifestations commonly observed in autoimmune disorders poses a major challenge to genetic studies of such diseases. Systemic lupus erythematosus (SLE) affects humans as well as other mammals, and is characterized by the p
Externí odkaz:
https://doaj.org/article/3bf34628816943818286ed33a1eedab5
Autor:
Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S Jokinen, Eija H Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin H Jäderlund, Anu K Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb
Publikováno v:
PLoS Genetics, Vol 11, Iss 4, p e1005169 (2015)
Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic studies to characterize a novel canine neurodegenerative disease present in the Lagotto Romagnol
Externí odkaz:
https://doaj.org/article/29096210965a4aefadbe5af9c92fd53a
Autor:
Ann E Cooper, Saija Ahonen, Jessica S Rowlan, Alison Duncan, Eija H Seppälä, Päivi Vanhapelto, Hannes Lohi, András M Komáromy
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e106610 (2014)
Inherited retinal degenerations, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD), represent leading causes of incurable blindness in humans. This is also true in dogs, where the term progressive retinal atrophy (PRA) is u
Externí odkaz:
https://doaj.org/article/e70286edb9174619972b81a7a8e2d8c2
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56825 (2013)
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes. This glycogen storage disease type II has been report
Externí odkaz:
https://doaj.org/article/6c4ece5f35ca47fb8c285f0d495bf440
Autor:
Eija H Seppälä, Lotta L E Koskinen, Christina H Gulløv, Päivi Jokinen, Peter Karlskov-Mortensen, Luciana Bergamasco, Izabella Baranowska Körberg, Sigitas Cizinauskas, Anita M Oberbauer, Mette Berendt, Merete Fredholm, Hannes Lohi
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33549 (2012)
Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal
Externí odkaz:
https://doaj.org/article/676f96564cee41c5967efadf7ba1d518
Autor:
Kaisa Kyöstilä, Sigitas Cizinauskas, Eija H Seppälä, Esko Suhonen, Janis Jeserevics, Antti Sukura, Pernilla Syrjä, Hannes Lohi
Publikováno v:
PLoS Genetics, Vol 8, Iss 6, p e1002759 (2012)
Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination. Hereditary ataxias occur in many species, including humans and dogs. Several mutations have been found in humans, but
Externí odkaz:
https://doaj.org/article/0f6fbbe449c849b09e0a88ba4e7b6b69
Autor:
Amaury Vaysse, Abhirami Ratnakumar, Thomas Derrien, Erik Axelsson, Gerli Rosengren Pielberg, Snaevar Sigurdsson, Tove Fall, Eija H Seppälä, Mark S T Hansen, Cindy T Lawley, Elinor K Karlsson, LUPA Consortium, Danika Bannasch, Carles Vilà, Hannes Lohi, Francis Galibert, Merete Fredholm, Jens Häggström, Ake Hedhammar, Catherine André, Kerstin Lindblad-Toh, Christophe Hitte, Matthew T Webster
Publikováno v:
PLoS Genetics, Vol 7, Iss 10, p e1002316 (2011)
The extraordinary phenotypic diversity of dog breeds has been sculpted by a unique population history accompanied by selection for novel and desirable traits. Here we perform a comprehensive analysis using multiple test statistics to identify regions
Externí odkaz:
https://doaj.org/article/d1a5788aface4f22b8302a117fd49479