Imputation of canine genotype array data using 365 whole-genome sequences improves power of genome-wide association studies.

Autor: Jessica J Hayward, Michelle E White, Michael Boyle, Laura M Shannon, Margret L Casal, Marta G Castelhano, Sharon A Center, Vicki N Meyers-Wallen, Kenneth W Simpson, Nathan B Sutter, Rory J Todhunter, Adam R Boyko

Publikováno v: PLoS Genetics, Vol 15, Iss 9, p e1008003 (2019)

Genomic resources for the domestic dog have improved with the widespread adoption of a 173k SNP array platform and updated reference genome. SNP arrays of this density are sufficient for detecting genetic associations within breeds but are underpower

Externí odkaz: https://doaj.org/article/1b3b0967a4904b48ab1f842bd11f8123

MKLN1 splicing defect in dogs with lethal acrodermatitis.

Autor: Anina Bauer, Vidhya Jagannathan, Sandra Högler, Barbara Richter, Neil A McEwan, Anne Thomas, Edouard Cadieu, Catherine André, Marjo K Hytönen, Hannes Lohi, Monika M Welle, Petra Roosje, Cathryn Mellersh, Margret L Casal, Tosso Leeb

Publikováno v: PLoS Genetics, Vol 14, Iss 3, p e1007264 (2018)

Lethal acrodermatitis (LAD) is a genodermatosis with monogenic autosomal recessive inheritance in Bull Terriers and Miniature Bull Terriers. The LAD phenotype is characterized by poor growth, immune deficiency, and skin lesions, especially at the paw

Externí odkaz: https://doaj.org/article/00d133befa1a4234a8f5487df49c7e40

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

Autor: Naoto Tanaka, Emily V Dutrow, Keiko Miyadera, Lucie Delemotte, Christopher M MacDermaid, Shelby L Reinstein, William R Crumley, Christopher J Dixon, Margret L Casal, Michael L Klein, Gustavo D Aguirre, Jacqueline C Tanaka, Karina E Guziewicz

Publikováno v: PLoS ONE, Vol 10, Iss 9, p e0138943 (2015)

Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia

Externí odkaz: https://doaj.org/article/27ed9910b74a4aa4be0a7bf153d8b65a

Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs

Autor: Rahul Gawri, Yian Khai Lau, Gloria Lin, Snehal S. Shetye, Chenghao Zhang, Zhirui Jiang, Khaled Abdoun, Carla R. Scanzello, Stephanie Y. Jo, Wilfried Mai, George R. Dodge, Margret L. Casal, Lachlan J. Smith

Publikováno v: Molecular Therapy - Methods & Clinical Development. 28:12-26

Mucopolysaccharidosis (MPS) VII is an inherited lysosomal storage disorder characterized by deficient activity of the enzyme β-glucuronidase. Skeletal abnormalities are common in patients and result in diminished quality of life. Enzyme replacement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b07d2a3cfdbef076d57cc2815ef579e
https://doi.org/10.1016/j.omtm.2022.11.006

List of Contributors

Autor: Els Acke, Christopher B. Adolph, Maria Afonso, Kelly E. Allen, Boaz Arzi, Ingrid Balsa, Gad Baneth, Renee Barber, Emi N. Barker, Vanessa R. Barrs, Julia A. Beatty, Mikael Berg, Adam J. Birkenheuer, Byron L. Blagburn, Ross Bond, Dwight D. Bowman, Edward B. Breitschwerdt, Canio Buonavoglia, Brandy A. Burgess, Jamie M. Burkitt Creedon, Barbara A. Byrne, Margret L. Casal, Victoria J. Chalker, Bruno B. Chomel, Leah A. Cohn, Lynette K. Cole, Stephen D. Cole, Gary A. Conboy, Roberto Cortinas, Kimberly Coyner, William T.N. Culp, Joshua B. Daniels, Autumn P. Davidson, Jonathan D. Dear, Nicola Decaro, Amy E. DeClue, Dubraska Diaz-Campos, Pedro Paulo V.P. Diniz, Jitender P. Dubey, Edward J. Dubovi, Chrissy Eckstrand, John A. Ellis, David A. Elsemore, Steven E. Epstein, James F. Evermann, Janet E. Foley, Urs Giger, Ellie J.C. Goldstein, Jennifer Granick, Isabella D.F. Gremião, Amy M. Grooters, Danièlle A. Gunn-Moore, Lynn Guptill, Sarah A. Hamer, Shimon Harrus, Katrin Hartmann, Diana Henke, Emir Hodzic, Regina Hofmann-Lehmann, Elizabeth W. Howerth, Karin Hultin Jäderlund, Kate F. Hurley, Linda S. Jacobson, Jonas Johansson Wensman, Amy S. Kapatkin, Marc Kent, Jennifer K. Ketzis, Linda Kidd, Stacy Kraus, Mark Krockenberger, Michael R. Lappin, Alice C.Y. Lee, Tekla Lee-Fowler, Susan E. Little, Meryl P. Littman, Remo Lobetti, Araceli Lucio-Forster, Jennifer A. Luff, Hans Lutz, Mary Marcondes, Stanley L. Marks, Sina Marsilio, Patrick L. McDonough, Rodrigo C. Menezes, Lindsay Merkel, W. Zach Mills, Luisa H.M. Miranda, George E. Moore, Karen A. Moriello, Alyssa C. Mourning, John S. Munday, Mathios E. Mylonakis, Yoko Nagamori, C. Thomas Nelson, Anne B. Nordstoga, Jacqueline M. Norris, Carolyn R. O’Brien, Conor O’Halloran, Cynthia M. Otto, Mark G. Papich, Colin R. Parrish, Niels C. Pedersen, Andrew S. Peregrine, Sandro A. Pereira, Christine Petersen, John F. Prescott, Simon L. Priestnall, Barbara Qurollo, Alan Radford, Shelley C. Rankin, Krystle L. Reagan, Mason V. Reichard, Carol Reinero, Meriam N. Saleh, Sarah G.H. Sapp, Ashley B. Saunders, Tânia M.P. Schubach, Simone Schuller, Valeria Scorza, Rance K. Sellon, Claire R. Sharp, Deborah Silverstein, Ameet Singh, Virginia Sinnott-Stutzman, Karen F. Snowden, Laia Solano-Gallego, Miranda Spindel, Lindsay A. Starkey, Joshua A. Stern, Jean Stiles, Reinhard K. Straubinger, Jason W. Stull, Jane E. Sykes, Séverine Tasker, Jennifer E. Thomas, Sara M. Thomasy, Andrea Tipold, M. Katherine Tolbert, Thomas W. Vahlenkamp, Marc Vandevelde, Nancy Vincent-Johnson, Polina Vishkautsan, Trevor Waner, J. Scott Weese, Jodi L. Westropp, Stephen D. White, Jenessa A. Winston, Judit M. Wulcan, Michael J. Yabsley

Publikováno v: Greene's Infectious Diseases of the Dog and Cat ISBN: 9780323509343

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ab31e4fa1a408885b3a7dab2be0abd4a
https://doi.org/10.1016/b978-0-323-50934-3.01002-8