Abstract

The Tssue Culture Core facilities are of central importance for this Program Project, as they will continue to provide cultured cells from individuals affected with EB, from their unaffected family members, and from unrelated healthy controls for study in all Projects. During the previous years of support, the tissue culture facility has handled a large number of human cells from EB and control subjects. It has also maintained a large number of either spontaneously or virally transormed human cell lines that have been extremely helpful in elucidating gene expression of BMZ macromolecules, including type VII collagen. These established cell lines include a human amniotic endothelial cell line (WISH), a human epidermoid oral carcinoma cell line (KB), and a human fibrosarcoma cell line (HT-1080), which are commercially available (ATCC).

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Research Program Projects (P01)
Project #
5P01AR038923-13
Application #
6100441
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
13
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Thomas Jefferson University
Department
Type
DUNS #
061197161
City
Philadelphia
State
PA
Country
United States
Zip Code
19107

  Publications

Chung, Hye Jin; Uitto, Jouni (2010) Epidermolysis bullosa with pyloric atresia. Dermatol Clin 28:43-54
Chung, Hye Jin; Uitto, Jouni (2010) Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin 28:93-105
Mahoney, My G; Sadowski, Sara; Brennan, Donna et al. (2010) Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol 130:968-78
Remington, Jennifer; Wang, Xinyi; Hou, Yingpin et al. (2009) Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther 17:26-33
Uitto, Jouni (2009) Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*. Acta Derm Venereol 89:228-35
Lugassy, Jennie; McGrath, John A; Itin, Peter et al. (2008) KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol 128:1517-24
Igoucheva, Olga; Kelly, Aislinn; Uitto, Jouni et al. (2008) Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro. J Invest Dermatol 128:1476-86
Nakajima, Koji; Tamai, Katsuto; Yamazaki, Takehiko et al. (2008) Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes. J Invest Dermatol 128:1336-9
Varki, Roslyn; Sadowski, Sara; Uitto, Jouni et al. (2007) Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 44:181-92
Nyquist, Gurston G; Mumm, Christina; Grau, Renee et al. (2007) Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. Am J Med Genet A 143:734-41

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