@article{meurs_stern_reina-doreste_maran_chdid_lahmers_keene_mealey_2015, title={Impact of the canine double-deletion beta 1 adrenoreceptor polymorphisms on protein structure and heart rate response to atenolol, a beta 1-selective beta-blocker}, volume={25}, ISSN={["1744-6880"]}, url={https://doi.org/10.1097/FPC.0000000000000152}, DOI={10.1097/fpc.0000000000000152}, abstractNote={Objective &bgr;-Adrenergic receptor antagonists are widely utilized for the management of cardiac diseases in dogs. We have recently identified two deletion polymorphisms in the canine adrenoreceptor 1 (ADRB1) gene. We hypothesized that canine ADRB1 deletions would alter the structure of the protein, as well as the heart rate response to the &bgr;-adrenergic receptor antagonist, atenolol. The objectives of this study were to predict the impact of these deletions on the predicted structure of the protein and on the heart rate response to atenolol in a population of healthy adult dogs. Methods Eighteen apparently healthy, mature dogs with (11) and without (seven) ADRB1 deletions were evaluated. The heart rate of the dogs was evaluated with a baseline ambulatory ECG before and 14–21 days after atenolol therapy (1 mg/kg orally q12 h). Minimum, average, and maximum heart rates were compared between groups of dogs (deletions, controls) using an unpaired t-test and within each group of dogs using a paired t-test. The protein structure of ADRB1 was predicted by computer modeling. Results Deletions were predicted to alter the structure of the ADRB1 protein. The heart rates of the dogs with deletions were lower than those of the control dogs (the average heart rates were significantly lower). Conclusion ADRB1 deletions appear to have structural and functional consequences. Individual genome-based treatment recommendations could impact the management of dogs with heart disease.}, number={9}, journal={PHARMACOGENETICS AND GENOMICS}, author={Meurs, Kathryn M. and Stern, Josh A. and Reina-Doreste, Yamir and Maran, Brian A. and Chdid, Lhoucine and Lahmers, Sunshine and Keene, Bruce W. and Mealey, Katrina L.}, year={2015}, month={Sep}, pages={427–431} } @article{meurs_chdid_reina-doreste_stern_2015, title={Polymorphisms in the canine and feline renin-angiotensin-aldosterone system genes}, volume={46}, ISSN={["1365-2052"]}, url={https://doi.org/10.1111/age.12260}, DOI={10.1111/age.12260}, abstractNote={Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.}, number={2}, journal={ANIMAL GENETICS}, author={Meurs, Kathryn M. and Chdid, Lhoucine and Reina-Doreste, Yamir and Stern, Joshua A.}, year={2015}, month={Apr}, pages={226–226} } @article{ware_reina-doreste_stern_meurs_2015, title={Sudden Death Associated with QT Interval Prolongation and KCNQ1 Gene Mutation in a Family of English Springer Spaniels}, volume={29}, ISSN={["1939-1676"]}, url={https://europepmc.org/articles/PMC4895492}, DOI={10.1111/jvim.12550}, abstractNote={BackgroundA 5‐year‐old, healthy English Springer Spaniel died suddenly 4 months after delivering a litter of 7 puppies. Within 4 months of the dam's death, 3 offspring also died suddenly.}, number={2}, journal={JOURNAL OF VETERINARY INTERNAL MEDICINE}, author={Ware, W. A. and Reina-Doreste, Y. and Stern, J. A. and Meurs, K. M.}, year={2015}, pages={561–568} } @article{stern_white_lehmkuhl_reina-doreste_ferguson_nascone-yoder_meurs_2014, title={A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs}, volume={133}, ISSN={0340-6717 1432-1203}, url={http://dx.doi.org/10.1007/s00439-014-1454-0}, DOI={10.1007/s00439-014-1454-0}, abstractNote={Familial subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects in dogs and is an inherited defect of Newfoundlands, golden retrievers and human children. Although SAS is known to be inherited, specific genes involved in Newfoundlands with SAS have not been defined. We hypothesized that SAS in Newfoundlands is inherited in an autosomal dominant pattern and caused by a single genetic variant. We studied 93 prospectively recruited Newfoundland dogs, and 180 control dogs of 30 breeds. By providing cardiac screening evaluations for Newfoundlands we conducted a pedigree evaluation, genome-wide association study and RNA sequence analysis to identify a proposed pattern of inheritance and genetic loci associated with the development of SAS. We identified a three-nucleotide exonic insertion in phosphatidylinositol-binding clathrin assembly protein (PICALM) that is associated with the development of SAS in Newfoundlands. Pedigree evaluation best supported an autosomal dominant pattern of inheritance and provided evidence that equivocally affected individuals may pass on SAS in their progeny. Immunohistochemistry demonstrated the presence of PICALM in the canine myocardium and area of the subvalvular ridge. Additionally, small molecule inhibition of clathrin-mediated endocytosis resulted in developmental abnormalities within the outflow tract (OFT) of Xenopus laevis embryos. The ability to test for presence of this PICALM insertion may impact dog-breeding decisions and facilitate reduction of SAS disease prevalence in Newfoundland dogs. Understanding the role of PICALM in OFT development may aid in future molecular and genetic investigations into other congenital heart defects of various species.}, number={9}, journal={Human Genetics}, publisher={Springer Nature}, author={Stern, Joshua A. and White, Stephen N. and Lehmkuhl, Linda B. and Reina-Doreste, Yamir and Ferguson, Jordan L. and Nascone-Yoder, Nanette M. and Meurs, Kathryn M.}, year={2014}, month={Jun}, pages={1139–1148} } @article{reina-doreste_stern_keene_tou_atkins_defrancesco_ames_hodge_meurs_2014, title={Case-control study of the effects of pimobendan on survival time in cats with hypertrophic cardiomyopathy and congestive heart failure}, volume={245}, ISSN={["1943-569X"]}, url={https://doi.org/10.2460/javma.245.5.534}, DOI={10.2460/javma.245.5.534}, abstractNote={Abstract}, number={5}, journal={JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION}, author={Reina-Doreste, Yamir and Stern, Joshua A. and Keene, Bruce W. and Tou, Sandra P. and Atkins, Clarke E. and DeFrancesco, Teresa C. and Ames, Marisa K. and Hodge, Timothy E. and Meurs, Kathryn M.}, year={2014}, month={Sep}, pages={534–539} } @article{stern_reina-doreste_chdid_meurs_2014, title={Identification of PDE5A:E90K: A Polymorphism in the Canine Phosphodiesterase 5A Gene Affecting Basal cGMP Concentrations of Healthy Dogs}, volume={28}, ISSN={["1939-1676"]}, url={https://europepmc.org/articles/PMC4895552}, DOI={10.1111/jvim.12256}, abstractNote={BackgroundCyclic guanosine monophosphate (cGMP)‐specific phosphodiesterase (PDE5A) is the target of phosphodiesterase inhibitors such as sildenafil. Polymorphisms in the PDE5A gene that may predict response to therapy with sildenafil and nitric oxide, be linked to disease progression, and aid in risk assessment have been identified in human beings. Identification of polymorphisms in PDE5A could affect the physiologic actions of PDE5A and the effects of phosphodiestrase type 5 inhibitor drugs.}, number={1}, journal={JOURNAL OF VETERINARY INTERNAL MEDICINE}, author={Stern, J. A. and Reina-Doreste, Y. and Chdid, L. and Meurs, K. M.}, year={2014}, month={Jan}, pages={78–83} } @article{meurs_stern_reina-doreste_spier_koplitz_baumwart_2014, title={Natural History of Arrhythmogenic Right Ventricular Cardiomyopathy in the Boxer Dog: A Prospective Study}, volume={28}, ISSN={["1939-1676"]}, url={https://europepmc.org/articles/PMC4857953}, DOI={10.1111/jvim.12385}, abstractNote={BackgroundBoxer arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease that may result in sudden death or heart failure.}, number={4}, journal={JOURNAL OF VETERINARY INTERNAL MEDICINE}, author={Meurs, K. M. and Stern, J. A. and Reina-Doreste, Y. and Spier, A. W. and Koplitz, S. L. and Baumwart, R. D.}, year={2014}, pages={1214–1220} } @article{meurs_stern_sisson_kittleson_cunningham_ames_atkins_defrancesco_hodge_keene_et al._2013, title={Association of Dilated Cardiomyopathy with the Striatin Mutation Genotype in Boxer Dogs}, volume={27}, ISSN={["1939-1676"]}, url={https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jvim.12163}, DOI={10.1111/jvim.12163}, abstractNote={BackgroundMyocardial disease in the Boxer dog is characterized by 1 of 2 clinical presentations, dilated cardiomyopathy (DCM) characterized by ventricular systolic dysfunction, dilatation and tachyarrhythmias, and arrhythmogenic right ventricular cardiomyopathy (ARVC) characterized by ventricular tachyarrhythmias, syncope, and sudden death. Boxer ARVC has been associated with a deletion in the striatin gene in some families.}, number={6}, journal={JOURNAL OF VETERINARY INTERNAL MEDICINE}, author={Meurs, K. M. and Stern, J. A. and Sisson, D. D. and Kittleson, M. D. and Cunningham, S. M. and Ames, M. K. and Atkins, C. E. and DeFrancesco, T. and Hodge, T. E. and Keene, B. W. and et al.}, year={2013}, month={Nov}, pages={1437–1440} } @article{stern_white_meurs_2013, title={Extent of linkage disequilibrium in large-breed dogs: chromosomal and breed variation}, volume={24}, ISSN={["1432-1777"]}, url={https://doi.org/10.1007/s00335-013-9474-y}, DOI={10.1007/s00335-013-9474-y}, abstractNote={The aim of this study was to better define the extent of linkage disequilibrium (LD) in populations of large-breed dogs and its variation by breed and chromosomal region. Understanding the extent of LD is a crucial component for successful utilization of genome-wide association studies and allows researchers to better define regions of interest and target candidate genes. Twenty-four Golden Retriever dogs, 28 Rottweiler dogs, and 24 Newfoundland dogs were genotyped for single-nucleotide polymorphism (SNP) data using a high-density SNP array. LD was calculated for all autosomes using Haploview. Decay of the squared correlation coefficient (r (2)) was plotted on a per-breed and per-chromosome basis as well as in a genome-wide fashion. The point of 50 % decay of r (2) was used to estimate the difference in extent of LD between breeds. Extent of LD was significantly shorter for Newfoundland dogs based upon 50 % decay of r (2) data at a mean of 344 kb compared to Golden Retriever and Rottweiler dogs at 715 and 834 kb, respectively (P < 0.0001). Notable differences in LD by chromosome were present within each breed and not strictly related to the length of the corresponding chromosome. Extent of LD is breed and chromosome dependent. To our knowledge, this is the first report of SNP-based LD for Newfoundland dogs, the first report based on genome-wide SNPs for Rottweilers, and an almost tenfold improvement in marker density over previous genome-wide studies of LD in Golden Retrievers.}, number={9-10}, journal={MAMMALIAN GENOME}, author={Stern, Joshua A. and White, Stephen N. and Meurs, Kathryn M.}, year={2013}, month={Oct}, pages={409–415} } @article{stern_tou_barker_hill_lodge_mathews_keene_2013, title={Hybrid cutting balloon dilatation for treatment of cor triatriatum sinister in a cat}, volume={15}, ISSN={["1875-0834"]}, url={https://doi.org/10.1016/j.jvc.2013.03.001}, DOI={10.1016/j.jvc.2013.03.001}, abstractNote={A hybrid surgical approach and balloon dilatation were performed successfully in a cat with cor triatriatum sinister and clinical signs of congestive heart failure. Left lateral thoracotomy was used to access the heart and cutting balloon followed by standard balloon dilatation were utilized to dilate the perforation in the anomalous left atrial membrane. Clinical signs resolved completely after dilation of the anomalous left atrial membrane. Based upon the outcome of this case, balloon dilatation appears to be a viable treatment option for cats affected with cor triatriatum sinister.}, number={3}, journal={JOURNAL OF VETERINARY CARDIOLOGY}, author={Stern, Joshua A. and Tou, Sandra P. and Barker, Piers C. A. and Hill, Kevin D. and Lodge, Andrew J. and Mathews, Kyle G. and Keene, Bruce W.}, year={2013}, month={Sep}, pages={205–210} } @article{doreste_stern_lahmers_2013, title={Untitled}, volume={242}, number={7}, journal={Journal of the American Veterinary Medical Association}, author={Doreste, Y. R. and Stern, J. A. and Lahmers, S. M.}, year={2013}, pages={926–928} } @article{stern_meurs_nelson_lahmers_lehmkuhl_2012, title={Familial subvalvular aortic stenosis in golden retrievers: inheritance and echocardiographic findings}, volume={53}, number={4}, journal={Journal of Small Animal Practice}, author={Stern, J. A. and Meurs, K. M. and Nelson, O. L. and Lahmers, S. M. and Lehmkuhl, L. B.}, year={2012}, pages={213–216} }