Publications:

Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.

Plos Genetics

Anderson, Heidi H; Davison, Stephen S; Lytle, Katherine M KM; Honkanen, Leena L; Freyer, Jamie J; Mathlin, Julia J; Kyöstilä, Kaisa K; Inman, Laura L; Louviere, Annette A; Chodroff Foran, Rebecca R; Forman, Oliver P OP; Lohi, Hannes H; Donner, Jonas J

Publication Date: 2022-06

Variant appearance in text: MYBPC3: 1558G>A

PubMed Link: 35709088

Variant Present in the following documents:

• Main text
• pgen.1009804.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MYBPC3: E520K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: MYBPC3: 1558G>A; Glu520Lys

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Mucopolysaccharidosis VI in cats - clarification regarding genetic testing.

Bmc Veterinary Research

Lyons, Leslie A LA; Grahn, Robert A RA; Genova, Francesca F; Beccaglia, Michela M; Hopwood, John J JJ; Longeri, Maria M

Publication Date: 2016-07-02

Variant appearance in text: MYBPC3: 1558G>A

PubMed Link: 27370326

Variant Present in the following documents:

• Main text
• 12917_2016_Article_764.pdf

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