Margret L Casal

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia
    Margret L Casal
    School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Am J Hum Genet 81:1050-6. 2007
  2. ncbi request reprint Familial glomerulonephropathy in the Bullmastiff
    M L Casal
    Section of Medical Genetics, Veterinary Hospital of the University of Pennsylvania, Philadelphia, PA 19104 6010, USA
    Vet Pathol 41:319-25. 2004
  3. pmc Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency
    Margret 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
  4. pmc Mutation identification in a canine model of X-linked ectodermal dysplasia
    Margret L Casal
    Section of Medical Genetics, Veterinary Hospital, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6010, USA
    Mamm Genome 16:524-31. 2005
  5. pmc Epilepsy in Irish Wolfhounds
    Margret 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
  6. pmc Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia
    Elizabeth 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
  7. pmc Severe papillomavirus infection progressing to metastatic squamous cell carcinoma in bone marrow-transplanted X-linked SCID dogs
    Michael 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
  8. pmc Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE
    Ping Wang
    School of Veterinary Medicine, Section of Medical Genetics, University of Pennsylvania, Philadelphia, PA, USA
    Immunogenetics 63:197-207. 2011
  9. pmc The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever
    E 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
  10. ncbi request reprint Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
    P 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

Research Grants

Collaborators

Detail Information

Publications19

  1. pmc Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia
    Margret 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...
  2. ncbi request reprint Familial glomerulonephropathy in the Bullmastiff
    M 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...
  3. pmc Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency
    Margret 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...
  4. pmc Mutation identification in a canine model of X-linked ectodermal dysplasia
    Margret L Casal
    Section of Medical Genetics, Veterinary Hospital, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6010, USA
    Mamm Genome 16:524-31. 2005
    ....
  5. pmc Epilepsy in Irish Wolfhounds
    Margret 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...
  6. pmc Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia
    Elizabeth 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...
  7. pmc Severe papillomavirus infection progressing to metastatic squamous cell carcinoma in bone marrow-transplanted X-linked SCID dogs
    Michael 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...
  8. pmc Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE
    Ping 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...
  9. pmc The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever
    E 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...
  10. ncbi request reprint Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
    P 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...
  11. pmc Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs
    J 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...
  12. pmc 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
    Elizabeth 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...
  13. pmc Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia
    Gabriela 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...
  14. pmc Black hair follicular dysplasia in Large Münsterländer dogs: clinical, histological and ultrastructural features
    Wolf 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...
  15. pmc Bone marrow transplantation for feline mucopolysaccharidosis I
    N 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...
  16. ncbi request reprint Mucopolysaccharidosis type VII in the developing mouse fetus
    M 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...
  17. ncbi request reprint A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease
    R L Somberg
    Department of Clinical Studies, University of Pennsylvania, School of Veterinary Medicine, Philadelphia 19104 6010, USA
    Vet Immunol Immunopathol 47:203-13. 1995
    ....
  18. ncbi request reprint Variant clinical course of mucopolysaccharidosis type VII in two groups of mice carrying the same mutation
    M 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...
  19. pmc Analysis of the liver soluble proteome from bull terriers affected with inherited lethal acrodermatitis
    Arthur 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...

Research Grants1

  1. A Canine Model for Human X-Linked Ectodermal Dysplasia
    Margret 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. ..