Abstract

The overall aim of the Molecular Biology Core is to provide a series of services to the Projects 1-5 on this Program Project, that are most efficiently and conveniently provided by a centralized facility. A prominent function of this core will be testing and establishing new and advanced technologies of molecular biology towards facilitation of the identification of mutated DNA sequences. In the recent past, the Molecular Biology Core has established several advanced techniques, including direct sequencing of PCR products and single strand conformation polymorphism (SSCP) electrophoresis, among others to be used in the laboratories. The Molecular Biology Core also operates several sophisticated pieces of equipment that will be used by a number of investigators on this project. The degree of sophistication of this equipment mandates that they will be best maintained and operated by individuals who are thoroughly familiar with them. These equipment items include a nucleotide synthesizer (ABI) which provides sequencing primers and oligonucleotides for hybridizations to investigators in all five projects, and an automated DNA sequencer (ABI). Current efforts are directed to establish a functional robotic workstation for DNA amplification and DNA sequencing reactions.

  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 #
5P01AR038923-14
Application #
6299821
Study Section
Project Start
1999-12-01
Project End
2000-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
14
Fiscal Year
2000
Total Cost
$144,808
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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