Search Results - "CASAL, Margret L"

Complex disease and phenotype mapping in the domestic dog by Hayward, Jessica J., Castelhano, Marta G., Oliveira, Kyle C., Corey, Elizabeth, Balkman, Cheryl, Baxter, Tara L., Casal, Margret L., Center, Sharon A., Fang, Meiying, Garrison, Susan J., Kalla, Sara E., Korniliev, Pavel, Kotlikoff, Michael I., Moise, N. S., Shannon, Laura M., Simpson, Kenneth W., Sutter, Nathan B., Todhunter, Rory J., Boyko, Adam R.

“…The domestic dog is becoming an increasingly valuable model species in medical genetics, showing particular promise to advance our understanding of cancer and…”
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Evaluation of Intrathecal Routes of Administration for Adeno-Associated Viral Vectors in Large Animals by Hinderer, Christian, Bell, Peter, Katz, Nathan, Vite, Charles H, Louboutin, Jean-Pierre, Bote, Erin, Yu, Hongwei, Zhu, Yanqing, Casal, Margret L, Bagel, Jessica, O'Donnell, Patricia, Wang, Ping, Haskins, Mark E, Goode, Tamara, Wilson, James M

“…Delivery of adeno-associated viral (AAV) vectors into the cerebrospinal fluid (CSF) can achieve gene transfer to cells throughout the brain and spinal cord,…”
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A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs by Casal, Margret L, Wang, Ping, Mauldin, Elizabeth A, Lin, Gloria, Henthorn, Paula S

“…Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous…”
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Imputation of canine genotype array data using 365 whole-genome sequences improves power of genome-wide association studies by Hayward, Jessica J, White, Michelle E, Boyle, Michael, Shannon, Laura M, Casal, Margret L, Castelhano, Marta G, Center, Sharon A, Meyers-Wallen, Vicki N, Simpson, Kenneth W, Sutter, Nathan B, Todhunter, Rory J, Boyko, Adam R

“…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…”
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MKLN1 splicing defect in dogs with lethal acrodermatitis by Bauer, Anina, Jagannathan, Vidhya, Högler, Sandra, Richter, Barbara, McEwan, Neil A, Thomas, Anne, Cadieu, Edouard, André, Catherine, Hytönen, Marjo K, Lohi, Hannes, Welle, Monika M, Roosje, Petra, Mellersh, Cathryn, Casal, Margret L, Leeb, Tosso

“…Lethal acrodermatitis (LAD) is a genodermatosis with monogenic autosomal recessive inheritance in Bull Terriers and Miniature Bull Terriers. The LAD phenotype…”
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Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines by Mauldin, Elizabeth A., Crumrine, Debra, Casal, Margret L., Jeong, Sekyoo, Opálka, Lukáš, Vavrova, Katerina, Uchida, Yoshikazu, Park, Kyungho, Craiglow, Brittany, Choate, Keith A., Shin, Kyong-Oh, Lee, Yong-Moon, Grove, Gary L., Wakefield, Joan S., Khnykin, Denis, Elias, Peter M.

“…Mutations in several lipid synthetic enzymes that block fatty acid and ceramide production produce autosomal recessive congenital ichthyoses (ARCIs) and…”
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Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia by Casal, Margret L., Lewis, John R., Mauldin, Elizabeth A., Tardivel, Aubry, Ingold, Karine, Favre, Manuel, Paradies, Fabrice, Demotz, Stéphane, Gaide, Olivier, Schneider, Pascal

“…Patients with defective ectodysplasin A (EDA) are affected by X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by sparse hair,…”
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Vitrification Using Soy Lecithin and Sucrose: A New Way to Store the Sperm for the Preservation of Canine Reproductive Function by Zakošek Pipan, Maja, Casal, Margret L, Šterbenc, Nataša, Klun, Irma Virant, Mrkun, Janko

“…A challenge in freezing semen for short and long-term availability is avoiding damage to intact spermatozoa caused by the freezing process. Vitrification…”
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Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment by Tanaka, Naoto, Dutrow, Emily V, Miyadera, Keiko, Delemotte, Lucie, MacDermaid, Christopher M, Reinstein, Shelby L, Crumley, William R, Dixon, Christopher J, Casal, Margret L, Klein, Michael L, Aguirre, Gustavo D, Tanaka, Jacqueline C, Guziewicz, Karina E

“…Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and…”
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Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs by Gawri, Rahul, Lau, Yian Khai, Lin, Gloria, Shetye, Snehal S., Zhang, Chenghao, Jiang, Zhirui, Abdoun, Khaled, Scanzello, Carla R., Jo, Stephanie Y., Mai, Wilfried, Dodge, George R., Casal, Margret L., Smith, Lachlan J.

“…Mucopolysaccharidosis (MPS) VII is an inherited lysosomal storage disorder characterized by deficient activity of the enzyme β-glucuronidase. Skeletal…”
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A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder by Bauer, Anina, De Lucia, Michela, Jagannathan, Vidhya, Mezzalira, Giorgia, Casal, Margret L, Welle, Monika M, Leeb, Tosso

“…In heterozygous females affected by an X-linked skin disorder, lesions often appear in a characteristic pattern, the so-called Blaschko's lines. We…”
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Feline Fertility Consequences of inbreeding and implications for reproductive fitness by Casal, Margret L

“…Practical relevance: When compared with the number of individuals that make up a dog breed, the population within a given cat breed is very small. Therefore,…”
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Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs by Olivry, Thierry, Linder, Keith E, Wang, Ping, Bizikova, Petra, Bernstein, Joseph A, Dunston, Stanley M, Paps, Judy S, Casal, Margret L

“…In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis) are very rare, and spontaneous animal models…”
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Molecular and Therapeutic Characterization of Anti-ectodysplasin A Receptor (EDAR) Agonist Monoclonal Antibodies by Kowalczyk, Christine, Dunkel, Nathalie, Willen, Laure, Casal, Margret L., Mauldin, Elizabeth A., Gaide, Olivier, Tardivel, Aubry, Badic, Giovanna, Etter, Anne-Lise, Favre, Manuel, Jefferson, Douglas M., Headon, Denis J., Demotz, Stéphane, Schneider, Pascal

“…The TNF family ligand ectodysplasin A (EDA) and its receptor EDAR are required for proper development of skin appendages such as hair, teeth, and eccrine sweat…”
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Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats by Margolis, Carol, Zakošek Pipan, Maja, Demchur, Jolie, Or, Matan, Henthorn, Paula, Casal, Margret L

“…The congenital midline defects of peritoneopericardial diaphragmatic hernia (PPDH) and omphalocele are believed to be related developmental defects, and have…”
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Severe Papillomavirus Infection Progressing to Metastatic Squamous Cell Carcinoma in Bone Marrow-Transplanted X-Linked SCID Dogs by GOLDSCHMIDT, Michael H, KENNEDY, Jeffrey S, HARTNETT, Brian J, WEINBERG, Kenneth I, SCHLEGEL, Richard, FELSBURG, Peter J, KENNEDY, Douglas R, HANG YUAN, HOLT, David E, CASAL, Margret L, TRAAS, Anne M, MAULDIN, Elizabeth A, MOORE, Peter F, HENTHORN, Paula S

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs by Bigg, Paul W., Baldo, Guilherme, Sleeper, Meg M., O'Donnell, Patricia A., Bai, Hanqing, Rokkam, Venkata R.P., Liu, Yuli, Wu, Susan, Giugliani, Roberto, Casal, Margret L., Haskins, Mark E., Ponder, Katherine P.

“…Mucopolysaccharidosis VII (MPS VII) is due to the deficient activity of β-glucuronidase (GUSB) and results in the accumulation of glycosaminoglycans (GAGs) in…”
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A review of gene therapy in canine and feline models of lysosomal storage disorders by Bradbury, Allison M, Gurda, Brittney L, Casal, Margret L, Ponder, Katherine P, Vite, Charles H, Haskins, Mark E

“…Lysosomal storage disorders (LSDs) are inherited diseases that result from the intracellular accumulation of incompletely degraded macromolecules. The majority…”
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Exfoliative cutaneous lupus erythematosus in German shorthaired pointer dogs: disease development, progression and evaluation of three immunomodulatory drugs (ciclosporin, hydroxychloroquine, and adalimumab) in a controlled environment by Mauldin, Elizabeth A, Morris, Daniel O, Brown, Dorothy C, Casal, Margret L

“…Six German shorthaired pointer dogs (two females, four males) with exfoliative cutaneous lupus erythematosus (ECLE) were studied in a controlled setting until…”
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German Shorthaired Pointer dogs with exfoliative cutaneous lupus erythematosus develop immune-complex membranous glomerulonephropathy by Amerman, Hayley K., Cianciolo, Rachel E., Casal, Margret L., Mauldin, Elizabeth

“…German Shorthaired Pointer (GSHP) dogs with a UNC93B1 gene mutation develop exfoliative cutaneous lupus erythematosus (ECLE) and kidney disease resembling…”
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