Margret L Casal
Affiliation: University of Pennsylvania
- Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasiaMargret L Casal
School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Am J Hum Genet 81:1050-6. 2007..These results not only provide proof of concept for a potential treatment of this orphan disease but also demonstrate an essential role of EDA in the development of secondary dentition...
- Familial glomerulonephropathy in the BullmastiffM L Casal
Section of Medical Genetics, Veterinary Hospital of the University of Pennsylvania, Philadelphia, PA 19104 6010, USA
Vet Pathol 41:319-25. 2004..Histologic abnormalities of the kidneys were consistent with chronic glomerulonephropathy with sclerosis. Examination of the pedigrees of related affected dogs yielded evidence supporting an autosomal recessive mode of inheritance...
- Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiencyMargret L Casal
Section of Medical Genetics, Veterinary School of the University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA 19104 6010, USA
Vet Immunol Immunopathol 107:95-104. 2005..The results presented in this study indicate that the XHED dogs have a relatively intact immune system and suggest that the same is true for humans with the homologous form of XHED...
- Mutation identification in a canine model of X-linked ectodermal dysplasiaMargret L Casal
Section of Medical Genetics, Veterinary Hospital, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6010, USA
Mamm Genome 16:524-31. 2005....
- Epilepsy in Irish WolfhoundsMargret L Casal
Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104 6010, USA
J Vet Intern Med 20:131-5. 2006..Assuming all affected dogs have the same form of epilepsy, the simplest description of the complex pattern of inheritance observed is autosomal recessive, with incomplete penetrance and male dogs at increased risk...
- Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasiaElizabeth A Mauldin
School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA 19104, USA
Am J Med Genet A 149:2045-9. 2009..These results demonstrate that a short-term treatment at a neonatal age with a recombinant protein can reverse a developmental disease and result in vastly improved quality of life...
- Severe papillomavirus infection progressing to metastatic squamous cell carcinoma in bone marrow-transplanted X-linked SCID dogsMichael H Goldschmidt
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St, Philadelphia, PA 19104, USA
J Virol 80:6621-8. 2006..Canine XSCID therefore provides an ideal animal model with which to study the role of the gammac-dependent signaling pathway in the response to papillomavirus infections and the progression of these viral infections to metastatic SCC...
- Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLEPing Wang
School of Veterinary Medicine, Section of Medical Genetics, University of Pennsylvania, Philadelphia, PA, USA
Immunogenetics 63:197-207. 2011..The data generated should allow identification of the mutant gene responsible for this form of cutaneous lupus erythematosus in dogs and assist in the understanding of the development of similar disease in humans...
- The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retrieverE A Mauldin
School of Veterinary Medicine, Laboratory of Pathology and Toxicology, University of Pennsylvania, 3800 Spruce Street, Philadelphia, PA 19104 6051, USA
Vet Pathol 45:174-80. 2008..This unique hyperkeratotic/scaling disorder in Golden Retrievers has distinctive clinical, histologic, and ultrastructural features, which are consistent with a primary cornification defect...
- Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogsP S Henthorn
Center for Comparative Medical Genetics, Laboratory of Biochemistry, University of Pennsylvania School of Veterinary Medicine, Philadelphia 19104 6010, USA
Hum Genet 107:295-303. 2000..The canine homologue of human type I cystinuria provides the opportunity to use a large animal model to investigate molecular approaches for the treatment of cystinuria and other renal tubular diseases...
- Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogsJ R Lewis
Department of Clinical Studies, Matthew J Ryan Veterinary Hospital, University of Pennsylvania, Philadelphia, PA 19104 6010, USA
Orthod Craniofac Res 13:40-7. 2010..The current study describes the results of clinical and radiographic examinations of XLHED-affected dogs and demonstrates profound similarities to findings of XLHED-affected humans...
- 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 environmentElizabeth A Mauldin
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, 3850 Spruce Street Philadelphia, PA 19104, USA
Vet Dermatol 21:373-82. 2010..The study documents the progression of ECLE and generally poor response to therapy...
- Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasiaGabriela S Seiler
Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Spruce Street, Philadelphia, PA 19104 6010, USA
Vet Radiol Ultrasound 51:453-7. 2010..The ability to detect dysplastic changes before clinical signs develop makes ultrasound a potentially useful screening method for canine renal dysplasia...
- Black hair follicular dysplasia in Large Münsterländer dogs: clinical, histological and ultrastructural featuresWolf von Bomhard
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, 19104, USA
Vet Dermatol 17:182-8. 2006..In view of the correlation in the phenotype, histology and ultrastructure between both disorders, a defect in intracellular melanosome transport is postulated as the pathogenic mechanism in BHFD...
- Bone marrow transplantation for feline mucopolysaccharidosis IN Matthew Ellinwood
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Mol Genet Metab 91:239-50. 2007..Immunohistochemical and biochemical analysis documented decreased central nervous system ganglioside storage. This large animal MPS I study will serve as a benchmark of future therapies designed to improve on BMT...
- Mucopolysaccharidosis type VII in the developing mouse fetusM L Casal
Department of Pathobiology and Center for Comparative Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104, USA
Pediatr Res 47:750-6. 2000..5 d gestational age and in brains until birth. The results suggest that treatment of affected mice performed at 13.5 d gestational age may be effective in forestalling disease manifestations...
- A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency diseaseR L Somberg
Department of Clinical Studies, University of Pennsylvania, School of Veterinary Medicine, Philadelphia 19104 6010, USA
Vet Immunol Immunopathol 47:203-13. 1995....
- Variant clinical course of mucopolysaccharidosis type VII in two groups of mice carrying the same mutationM L Casal
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104, USA
Lab Invest 78:1575-81. 1998..C-H-2bml/ByBir-gus(mps/+) were interbred with normal C3H mice. This study compares clinical findings, fertility, longevity, and gross and microscopic findings in the original strain with those in the F2 generation of the interbred strain...
- Analysis of the liver soluble proteome from bull terriers affected with inherited lethal acrodermatitisArthur Grider
University of Georgia, Department of Foods and Nutrition, 171 Dawson Hall, Athens, GA 30606, USA
Mol Genet Metab 92:249-57. 2007..The differentially expressed proteins that were identified may be key in understanding the etiology of LAD, and may lead to diagnostic tools for its identification within the bull terrier population...
- A Canine Model for Human X-Linked Ectodermal DysplasiaMargret Casal; Fiscal Year: 2007..Furthermore, the HED dogs will be examined to demonstrate that a specific immune deficiency is responsible for pulmonary disease rather than the previously thought lack of respiratory mucoid glands. ..