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A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease.
Bertani V, Prioni S, Di Lecce R, Gazza F, Ragionieri L, Merialdi G, Bonilauri P, Jagannathan V, Grassi S, Cabitta L, Paoli A, Morrone A, Sonnino S, Drögemüller C, Cantoni AM. Bertani V, et al. Among authors: drogemuller c. Mol Genet Metab. 2021 Jul;133(3):297-306. doi: 10.1016/j.ymgme.2021.05.001. Epub 2021 May 7. Mol Genet Metab. 2021. PMID: 34119419
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.
Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drögemüller C, Dietschi E, Dolf G, Tellhelm B, Lang J, Tiira K, Lohi H, Leeb T. Frischknecht M, et al. Among authors: drogemuller c. PLoS One. 2013;8(3):e60149. doi: 10.1371/journal.pone.0060149. Epub 2013 Mar 20. PLoS One. 2013. PMID: 23527306 Free PMC article.
A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation.
Jagannathan V, Bannoehr J, Plattet P, Hauswirth R, Drögemüller C, Drögemüller M, Wiener DJ, Doherr M, Owczarek-Lipska M, Galichet A, Welle MM, Tengvall K, Bergvall K, Lohi H, Rüfenacht S, Linek M, Paradis M, Müller EJ, Roosje P, Leeb T. Jagannathan V, et al. Among authors: drogemuller c, drogemuller m. PLoS Genet. 2013;9(10):e1003848. doi: 10.1371/journal.pgen.1003848. Epub 2013 Oct 3. PLoS Genet. 2013. PMID: 24098150 Free PMC article.
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
Murgiano L, Jagannathan V, Benazzi C, Bolcato M, Brunetti B, Muscatello LV, Dittmer K, Piffer C, Gentile A, Drögemüller C. Murgiano L, et al. Among authors: drogemuller c. PLoS One. 2014 Apr 14;9(4):e94861. doi: 10.1371/journal.pone.0094861. eCollection 2014. PLoS One. 2014. PMID: 24733244 Free PMC article.
A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH).
Drögemüller M, Jagannathan V, Becker D, Drögemüller C, Schelling C, Plassais J, Kaerle C, Dufaure de Citres C, Thomas A, Müller EJ, Welle MM, Roosje P, Leeb T. Drögemüller M, et al. Among authors: drogemuller c. PLoS Genet. 2014 May 15;10(5):e1004370. doi: 10.1371/journal.pgen.1004370. eCollection 2014. PLoS Genet. 2014. PMID: 24832243 Free PMC article.
A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease.
Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. Kyöstilä K, et al. Among authors: drogemuller c, drogemuller m. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25875846 Free PMC article.
398 results