4 documents found, page 1 of 1
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred...
Hart, Patricia Suzanne; Pallos, Débora; Zhang, Yingze; Sanchez, Jane; Kavamura, Ines; Brunoni, Décio; Hart, Thomas Charles.Made available in DSpace on 2019-09-12T16:53:44Z (GMT). No. of bitstreams: 0 Previous issue date: 2002; Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations. This study reports CTSC mutational and enzyme analyses in a consanguineous Brazilian family with PLS, representing the first enzymatic analysis of a Brazilian kinship with PLS. This ...
Evaluation of human leukocyte N-formylpeptide receptor (FPR1) SNPs in aggressiv...
Zhang, Y; Syed, R; Uygar, C; Pallos, Débora; Gorry, MC; Firatli, E; Cortelli, José Roberto; VanDyke, TE; Hart, Patricia Suzanne; Feingold, EMade available in DSpace on 2019-09-12T16:53:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2003; National Institute of Dental and Craniofacial Research (NIDCR); Polymorphonuclear neutrophils (PMNs) are attracted to sites of infection by N-formylpeptide (fMLP) chemoattractants. The high-affinity fMLP receptor (FPR1) of phagocytic cells interacts with bacterial fMLP and mediates chemotaxis, degranulation, ...
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type
Hart, Thomas Charles; Zhang, Yingze; Gorry, Michael C.; Hart, Patricia Suzanne; Cooper, Margaret; Marazita, Mary L.; Marks, Jared MMade available in DSpace on 2019-09-12T16:53:47Z (GMT). No. of bitstreams: 0 Previous issue date: 2002; National Institute of Dental and Craniofacial Research (NIDCR); Hereditary gingival fibromatosis (HGF) is a rare, autosomal dominant form of gingival overgrowth. Affected individuals have a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. Genetic loci for autosom...
Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and ...
Hart, Patricia Suzanne; Pallos, Débora; Cortelli, José Roberto; Vain, S; Wright, JT; Korkko, J; Hart, Thomas CharlesSuplemento (2); Made available in DSpace on 2019-09-12T16:57:21Z (GMT). No. of bitstreams: 0 Previous issue date: 2000; Univ Pittsburgh, Pittsburgh, PA USA; Universidade de Taubaté (Unitau), Sao Paulo, Brazil; Univ N Carolina, Chapel Hill, NC USA; Med Coll Penn & Hahnemann Univ, Ctr Gene Therapy, Philadelphia, PA USA