Genetic Variants at the Nebulette Locus Are Associated with Myxomatous Mitral Valve Disease Severity in Cavalier King Charles Spaniels

Autor: Sophie E. Mead, Niek J. Beijerink, Mitchell O’Brien, Claire M. Wade

Publikováno v: Genes; Volume 13; Issue 12; Pages: 2292

The most common cardiovascular disease in domestic dogs is myxomatous mitral valve disease (MMVD), accounting for 75% of all cardiac disease. An increase in age is generally associated with increased incidence of the disease, but Cavalier King Charle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b9b4ba617d0c4420a022fb1b2c0e7a
https://pubmed.ncbi.nlm.nih.gov/36553559

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Deficiency in nebulin repeats of sarcomeric nebulette is detrimental for cardiomyocyte tolerance to exercise and biomechanical stress

Autor: Lu Lu, Ning Li, Fuyi Xu, Jeffrey A. Towbin, Ramona M. Vejandla, Evren U. Azeloglu, Enkhsaikhan Purevjav, Undral Munkhsaikhan, Buyan-Ochir Orgil, Neely R Alberson, Zaza Khuchua, Ruben Martherus

Publikováno v: Am J Physiol Heart Circ Physiol

The actin-binding sarcomeric nebulette (NEBL) protein provides efficient contractile flexibility via interaction with desmin intermediate filaments. NEBL gene mutations affecting the nebulin repeat (NR) domain are known to induce cardiomyopathy. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18ecf034dac6fbba151b0e552dc65d88
https://europepmc.org/articles/PMC8163647/

The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels

Autor: Shrinivas Mane, Alberto Del Rio-Espinola, Åsa Ohlsson, Åke Hedhammar, Philippe Gruet, Jens Häggström, Mats E. Pettersson, Nilesh R. Tawari, Erik Axelsson, Troy Hawkins, Karolina Engdahl, Lisbeth H. Olsen, Ingrid Ljungvall, Ragnvi Hagman, Dmytro Kryvokhyzha, Olivier Grenet, Jeanette Hanson, Eva Murén, Jonathan G. Moggs, Kerstin Lindblad-Toh, Priyasma Bhoumik, Laura Bas Conn, Christian Epe, Bruce Taillon

Publikováno v: Axelsson, E, Ljungvall, I, Bhoumik, P, Conn, L B, Muren, E, Ohlsson, Å, Olsen, L H, Engdahl, K, Hagman, R, Hanson, J, Kryvokhyzha, D, Pettersson, M, Grenet, O, Moggs, J, Del Rio-Espinola, A, Epe, C, Taillon, B, Tawari, N, Mane, S, Hawkins, T, Hedhammar, Å, Gruet, P, Häggström, J & Lindblad-Toh, K 2021, ' The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels : [+ correction] ', PLOS Genetics, vol. 17, no. 9, e1009726 . https://doi.org/10.1371/journal.pgen.1009726
PLoS Genetics, 17 (9)
PLoS Genetics
PLoS Genetics, Vol 17, Iss 9, p e1009726 (2021)

Selective breeding for desirable traits in strictly controlled populations has generated an extraordinary diversity in canine morphology and behaviour, but has also led to loss of genetic variation and random entrapment of disease alleles. As a conse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1da38d6d836f08dd0ce14e097ac93696