An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

Autor: Suvi Mäkeläinen, Marta Gòdia, Minas Hellsand, Agnese Viluma, Daniela Hahn, Karim Makdoumi, Caroline J Zeiss, Cathryn Mellersh, Sally L Ricketts, Kristina Narfström, Finn Hallböök, Björn Ekesten, Göran Andersson, Tomas F Bergström

Publikováno v: PLoS Genetics, Vol 15, Iss 3, p e1007873 (2019)

Autosomal recessive retinal degenerative diseases cause visual impairment and blindness in both humans and dogs. Currently, no standard treatment is available, but pioneering gene therapy-based canine models have been instrumental for clinical trials

Externí odkaz: https://doaj.org/article/440e2dd2ef7541c0a70a7c12f3d6f9ec

Transcriptional responses in Parascaris univalens after in vitro exposure to ivermectin, pyrantel citrate and thiabendazole

Autor: Frida Martin, Faruk Dube, Oskar Karlsson Lindsjö, Matthías Eydal, Johan Höglund, Tomas F. Bergström, Eva Tydén

Publikováno v: Parasites & Vectors, Vol 13, Iss 1, Pp 1-14 (2020)

Abstract Background Parascaris univalens is a pathogenic parasite of foals and yearlings worldwide. In recent years, Parascaris spp. worms have developed resistance to several of the commonly used anthelmintics, though currently the mechanisms behind

Externí odkaz: https://doaj.org/article/54672b958c7e4752b2debee1ca24e65a

A novel canine reference genome resolves genomic architecture and uncovers transcript complexity

Autor: Henrik Rönnberg, Maja-Louise Arendt, Gerli Pielberg, Elisabeth Sundström, Jennifer R. S. Meadows, Jens Häggström, Chao Wang, Jessika Nordin, Tomas F. Bergström, Jeanette Hanson, Ola Wallerman, Ingrid Ljungvall, Åsa Karlsson, Sara Saellström, Åsa Ohlsson, Åke Hedhammar, Suvi Mäkeläinen, Kerstin Lindblad-Toh

Publikováno v: Wang, C, Wallerman, O, Arendt, M L, Sundström, E, Karlsson, Å, Nordin, J, Mäkeläinen, S, Pielberg, G R, Hanson, J, Ohlsson, Å, Saellström, S, Rönnberg, H, Ljungvall, I, Häggström, J, Bergström, T F, Hedhammar, Å, Meadows, J R S & Lindblad-Toh, K 2021, ' A novel canine reference genome resolves genomic architecture and uncovers transcript complexity ', Communications Biology, vol. 4, 185 . https://doi.org/10.1038/s42003-021-01698-x
Communications Biology, Vol 4, Iss 1, Pp 1-11 (2021)
Communications Biology

We present GSD_1.0, a high-quality domestic dog reference genome with chromosome length scaffolds and contiguity increased 55-fold over CanFam3.1. Annotation with generated and existing long and short read RNA-seq, miRNA-seq and ATAC-seq, revealed th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b98579921d02de00f53ef92eafa32e
https://pub.epsilon.slu.se/22751/

Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs

Autor: Suvi Mäkeläinen, Elina Andersson, Finn Hallböök, Cathryn S. Mellersh, Ingrid Ljungvall, Tomas F. Bergström, Göran Andersson, Minas Hellsand, Jens Häggström, Anna Darlene van der Heiden, Björn Ekesten, Elina Thorsson, Bodil Ström-Holst

In golden retriever dogs, a 1 bp deletion in the canine TTC8 gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa. In humans, TTC8 is also implicated in Bardet-Biedl syndrome (BBS). To investig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f8e5205f58399083678b54326e5f162b
https://doi.org/10.20944/preprints202008.0584.v1

A new long-read dog assembly uncovers thousands of exons and functional elements missing in the previous reference

Autor: Elisabeth Sundström, Henrik Rönnberg, Åsa Karlsson, Sara Saellström, Tomas F. Bergström, Ola Wallerman, Gerli Pielberg, Jeanette Hanson, Suvi Mäkeläinen, Chao Wang, Kerstin Lindblad-Toh, Åsa Ohlsson, Åke Hedhammar, Maja-Louise Arendt, Ingrid Ljungvall, Jessika Nordin, Jennifer R. S. Meadows, Jens Häggström

Here we present a new high-quality canine reference genome with gap number reduced 41-fold, from 23,836 to 585. Analysis of existing and novel data, RNA-seq, miRNA-seq and ATAC-seq, revealed a large proportion of these harboured previously hidden ele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c22749608885e4e5560e7ed771441868
https://doi.org/10.1101/2020.07.02.185108