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A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy

Autor: Mandigers, P J J, Van Steenbeek, F G, Bergmann, W, Vos-Loohuis, M, Leegwater, P A, CS_Genetics, Interne geneeskunde GD, Dep Clinical Sciences, dCSCA AVR, Dep Pathobiologie, VPDC pathologie, dPB CR, dCSCA RMSC-1

Publikováno v: Human Genetics, 140(11), 1547. Springer Verlag
Human Genetics

A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0886366bbe0ceb9968728e447edd0dad
https://dspace.library.uu.nl/handle/1874/418748

Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations

Autor: Pei, J, Schuldt, M, Nagyova, E, Gu, Z, El Bouhaddani, S, Yiangou, L, Jansen, M, Calis, J J A, Dorsch, L M, Blok, C Snijders, van den Dungen, N A M, Lansu, N, Boukens, B J, Efimov, I R, Michels, M, Verhaar, M C, de Weger, R, Vink, A, van Steenbeek, F G, Baas, A F, Davis, R P, Uh, H W, Kuster, D W D, Cheng, C, Mokry, M, van der Velden, J, Asselbergs, F W, Harakalova, M, Afd Pharmacoepi & Clinical Pharmacology, Interne geneeskunde GD, dCSCA AVR, Sub Inorganic Chemistry and Catalysis, LS Vertaalwetenschap, CS_Genetics

Publikováno v: Clinical Epigenetics, 13(1):61. BioMed Central Ltd.
Clinical epigenetics, 13(1):61. Springer Verlag
Pei, J, Schuldt, M, Nagyova, E, Gu, Z, el Bouhaddani, S, Yiangou, L, Jansen, M, Calis, J J A, Dorsch, L M, Blok, C S, van den Dungen, N A M, Lansu, N, Boukens, B J, Efimov, I R, Michels, M, Verhaar, M C, de Weger, R, Vink, A, van Steenbeek, F G, Baas, A F, Davis, R P, Uh, H W, Kuster, D W D, Cheng, C, Mokry, M, van der Velden, J, Asselbergs, F W & Harakalova, M 2021, ' Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations ', Clinical epigenetics, vol. 13, no. 1, 61 . https://doi.org/10.1186/s13148-021-01043-3
Clinical Epigenetics
Clinical Epigenetics, 13(1), 1. BioMed Central
Clinical Epigenetics, 13(1). BMC

Background Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the cardiac muscle, frequently caused by mutations in MYBPC3. However, little is known about the upstream pathways and key regulators causing the disease. Therefore, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48513be4255f80671f2b51e974fc2314
https://pure.eur.nl/en/publications/a2126346-ea8a-4e36-ba69-e93fb8de9a58

Quantification of the health-status of the Dutch Labrador retriever population

Autor: Keijser, S F A, Vernooij, J C M, van Garderen, E, van Rooijen, P, Fieten, H, van Steenbeek, F G, Hesselink, J W, Nielen, M, Onderzoek, LS Theoretische Epidemiologie, dFAH AVR, LS Interne geneeskunde, dCSCA RMSC-1, dCSCA AVR, Zorgfaciliteiten leiding, dCSCA RMSC-2, LS Evidence Based Vet Medicine

Publikováno v: Preventive Veterinary Medicine, 171. Elsevier

Health issues in purebred dogs are currently considered one of the biggest problems in companion animal health. The Labrador retriever (LR) is one of the most popular dog breeds. The aim of this study was to quantify LR breed health in comparison wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c54e65caf8e119e86216de3d791c03
https://doi.org/10.1016/j.prevetmed.2019.104764

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