Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs.

Authors: Shelton, G. Diane¹ (AUTHOR) gshelton@health.ucsd.edu, Mickelson, James R.² (AUTHOR) micke001@umn.edu, Friedenberg, Steven G.³ (AUTHOR) fried255@umn.edu, Cullen, Jonah N.³ (AUTHOR) cull0084@umn.edu, Graham, Karina⁴ (AUTHOR) karina@vsos.com.au, Carpentier, Missy C.⁵ (AUTHOR) carpentier@mnveterinaryneurology.com, Guo, Ling T.¹ (AUTHOR), Minor, Katie M.³ (AUTHOR) minork@umn.edu

Source: Animals (2076-2615). Mar2024, Vol. 14 Issue 5, p722. 12p.

Subject Terms: *MUSCULAR hypertrophy, *ANIMAL diseases, *BULLDOG, *NEUROMUSCULAR diseases, *NEMALINE myopathy, *WHOLE genome sequencing, *FACIOSCAPULOHUMERAL muscular dystrophy

Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype

Authors: Shelton, G. Diane, Minor, Katie M., Vieira, Natassia M., Kunkel, Louis M., Friedenberg, Steven G., Cullen, Jonah N., Guo, Ling T., Zatz, Mayana, Mickelson, James R.

Source: In Neuromuscular Disorders October 2022 32(10):836-841

Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs

Authors: Tate, Nicole M., Minor, Katie M., Lulich, Jody P., Mickelson, James R., Berent, Allyson, Foster, Jonathan D., Petersen, Kasey H., Furrow, Eva

Source: In Molecular Genetics and Metabolism Reports December 2021 29

Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation

Authors: Shelton, G. Diane, Minor, Katie M., Guo, Ling T., Friedenberg, Steven G., Cullen, Jonah N., Hord, Jeffrey M., Venzke, David, Anderson, Mary E., Devereaux, Megan, Prouty, Sally J., Handelman, Caryl, Campbell, Kevin P., Mickelson, James R.

Source: In Neuromuscular Disorders November 2021 31(11):1169-1178

Improving the resolution of canine genome‐wide association studies using genotype imputation: A study of two breeds

Authors: Jenkins, Christopher A., Aguirre, Gustavo, André, Catherine, Bannasch, Danika, Becker, Doreen, Davis, Brian, Drögemüller, Cord, Ekenstedt, Kari, Faller, Kiterie, Forman, Oliver, Friedenberg, Steven, Furrow, Eva, Giger, Urs, Hitte, Christophe, Hytönen, Marjo, Jagannathan, Vidhya, Leeb, Tosso, Lohi, Hannes, Mellersh, Cathryn S., Mickelson, James R., Murgiano, Leonardo, Oberbauer, Anita, Schmutz, Sheila, Schoenebeck, Jeffrey J., Summers, Kim M., van Steenbeek, Frank G., Wade, Claire, Schofield, Ellen C., De Risio, Luisa, Ricketts, Sally L

Source: Animal genetics. 52(5):703-713

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141106117.0x000001&indx=1&recIds=ETOCvdc_100141106117.0x000001

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

Authors: Bolduc, Véronique, Minor, Katie M., Hu, Ying, Kaur, Rupleen, Friedenberg, Steven G., Van Buren, Samantha, Guo, Ling T., Glennon, Joseph C., Marioni-Henry, Katia, Mickelson, James R., Bönnemann, Carsten G., Shelton, G. Diane

Source: In Neuromuscular Disorders May 2020 30(5):360-367

Canine reference genome accuracy impacts variant calling: Lessons learned from investigating embryonic lethal variants

Authors: Kinsey, Nathan A., Belanger, Janelle M., Oberbauer, Anita M., Aguirre, Gustavo, André, Catherine, Bannasch, Danika, Becker, Doreen, Davis, Brian, Drögemüller, Cord, Ekenstedt, Kari, Faller, Kiterie, Forman, Oliver, Friedenberg, Steven, Furrow, Eva, Giger, Urs, Hitte, Christophe, Hytönen, Marjo, Jagannathan, Vidhya, Leeb, Tosso, Lingaas, Frode, Lohi, Hannes, Mellersh, Cathryn S., Mickelson, James R., Murgiano, Leonardo, Oberbauer, Anita, Schmutz, Sheila, Schoenebeck, Jeffrey J., Summers, Kim M., Steenbeek, Frank G., Wade, Claire

Source: Animal genetics. 53(5):706-708

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100159864712.0x000001&indx=1&recIds=ETOCvdc_100159864712.0x000001

Exploration of fine-scale recombination rate variation in the domestic horse

Authors: Beeson, Samantha K., Mickelson, James R., McCue, Molly E.

Source: Genome research. 29(10):1744-1752

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN621798910&indx=1&recIds=ETOCRN621798910

Evaluation of an HMGA2 variant for pleiotropic effects on height and metabolic traits in ponies

Authors: Norton, Elaine M., Avila, Felipe, Schultz, Nichol E., Mickelson, James R., Geor, Ray J., McCue, Molly E.

Source: Journal of veterinary internal medicine. 33(2):942-952

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082953306.0x000001&indx=1&recIds=ETOCvdc_100082953306.0x000001

Exceptional Conservation of Horse-Human Gene Order on X Chromosome Revealed by High-Resolution Radiation Hybrid Mapping

Authors: Raudsepp, Terje, Lee, Eun-Joon, Kata, Srinivas R., Brinkmeyer, Candice, Mickelson, James R., Skow, Loren C., Womack, James E., Chowdhary, Bhanu P.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Feb . 101(8), 2386-2391.

Access URL: https://www.jstor.org/stable/3371301

Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes

Authors: Finno, Carrie J., Bordbari, Matthew H., Valberg, Stephanie J., Lee, David, Herron, Josi, Hines, Kelly, Monsour, Tamer, Scott, Erica, Bannasch, Danika L., Mickelson, James, Xu, Libin

Source: In Free Radical Biology and Medicine December 2016 101:261-271

Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia.

Authors: Tate, Nicole M., Underwood, Michaela, Thomas-Hollands, Alison, Minor, Katie M., Cullen, Jonah N., Friedenberg, Steven G., Mickelson, James R., Xenoulis, Panagiotis G., Steiner, Joerg M., Furrow, Eva

Source: Genes; Feb2024, Vol. 15 Issue 2, p193, 11p

Subject Terms: SEQUENCE analysis, HYPERTRIGLYCERIDEMIA, WHOLE genome sequencing, GENES, GENE frequency

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D

Authors: Mickelson, James R., Minor, Katie M., Guo, Ling T., Friedenberg, Steven G., Cullen, Jonah N., Ciavarella, Amanda, Hambrook, Lydia E., Brenner, Karen M., Helmond, Sarah E., Marks, Stanley L., Shelton, G. Diane

Source: Skeletal muscle. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191076970.0x000001&indx=1&recIds=ETOCvdc_100191076970.0x000001

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

Authors: Becker, Doreen, Minor, Katie, Letko, Anna, Ekenstedt, Kari, Jagannathan, Vidhya, Leeb, Tosso, Shelton, G. Diane, Mickelson, James, Drögemüller, Cord

Source: BMC genomics. 18(1):1-9

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140513628.0x000001&indx=1&recIds=ETOCvdc_100140513628.0x000001

Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds

Authors: Schaefer, Robert, Schubert, Mikkel, Bailey, Ernest, Bannasch, Danika, Barrey, Eric, Bar-Gal, Gila, Brem, Gottfried, Brooks, Samantha, Distl, Ottmar, Fries, Ruedi, Finno, Carrie, Gerber, Vinzenz, Haase, Bianca, Jagannathan, Vidhya, Kalbfleisch, Ted, Leeb, Tosso, Lindgren, Gabriella, Lopes, Maria, Mach, Núria, da Câmara Machado, Artur, MacLeod, James, McCoy, Annette, Metzger, Julia, Penedo, Cecilia, Polani, Sagi, Rieder, Stefan, Tammen, Imke, Tetens, Jens, Thaller, Georg, Verini-Supplizi, Andrea, Wade, Claire, Wallner, Barbara, Orlando, Ludovic, Mickelson, James, McCue, Molly

Source: BMC genomics. 18(1):1-18

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138333632.0x000001&indx=1&recIds=ETOCvdc_100138333632.0x000001

Transforming Lives of Former Foster Youths: A Campus-Based Support Program Grounded in Social Work Values.

Authors: Lee, Madeline Y¹ (AUTHOR) mlee@csusm.edu, Mickelson, James² (AUTHOR), Quijada, Leigh³ (AUTHOR), Orr, Laurie⁴ (AUTHOR)

Source: Social Work. Jul2021, Vol. 66 Issue 3, p217-225. 9p.

Subject Terms: *EX-foster children, *SOCIAL services, *SERVICES for college students, *TRANSITIONAL programs (Education), *PSYCHOLOGY of college students, *ACADEMIC achievement, *SOCIAL case work, *HUMAN services programs

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy.

Authors: Jankelunas, Leanne, Murthy, Vishal D., Chen, Annie V., Minor, Katie M., Friedenberg, Steven G., Cullen, Jonah N., Guo, Ling T., Mickelson, James R., Shelton, G. Diane

Source: Journal of Veterinary Internal Medicine; Nov/Dec2023, Vol. 37 Issue 6, p2504-2509, 6p

Subject Terms: MUSCULAR dystrophy, FACIOSCAPULOHUMERAL muscular dystrophy, CEREBROSPINAL fluid examination, CONTRACTURE (Pathology), DOGS, CREATINE kinase

A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.

Authors: Ekenstedt, Kari J., Minor, Katie M., Shelton, G. Diane, Hammond, James J., Miller, Andrew D., Taylor, Susan M., Huang, Yanyun, Mickelson, James R.

Source: Human Genetics; Nov2023, Vol. 142 Issue 11, p1587-1601, 15p

Subject Terms: HOMOZYGOSITY, FAMILIAL spastic paraplegia, CENTRAL nervous system, NEURODEGENERATION, SINGLE nucleotide polymorphisms, PERIPHERAL nervous system, CELL death

Genomic diversity and population structure of the Leonberger dog breed

Authors: Letko, Anna, Minor, Katie M., Jagannathan, Vidhya, Seefried, Franz R., Mickelson, James R., Oliehoek, Pieter, Drögemüller, Cord

Source: Genetics, selection, evolution. 52(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187108752.0x000001&indx=1&recIds=ETOCvdc_100187108752.0x000001

Correction to: Genomic diversity and population structure of the Leonberger dog breed

Authors: Letko, Anna, Minor, Katie M., Jagannathan, Vidhya, Seefried, Franz R., Mickelson, James R., Oliehoek, Pieter, Drögemüller, Cord

Source: Genetics, selection, evolution. 52(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187108721.0x000001&indx=1&recIds=ETOCvdc_100187108721.0x000001