Search Results - (Author, Cooperation:R. Y. Chuang)
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1Latest Papers from Table of Contents or Articles in PressC. A. Hutchison, 3rd ; R. Y. Chuang ; V. N. Noskov ; N. Assad-Garcia ; T. J. Deerinck ; M. H. Ellisman ; J. Gill ; K. Kannan ; B. J. Karas ; L. Ma ; J. F. Pelletier ; Z. Q. Qi ; R. A. Richter ; E. A. Strychalski ; L. Sun ; Y. Suzuki ; B. Tsvetanova ; K. S. Wise ; H. O. Smith ; J. I. Glass ; C. Merryman ; D. G. Gibson ; J. C. Venter
American Association for the Advancement of Science (AAAS)
Published 2016Staff ViewPublication Date: 2016-03-26Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Artificial Cells ; Codon/genetics ; DNA Transposable Elements ; DNA, Bacterial/*chemical synthesis/genetics ; Genes, Essential ; Genes, Synthetic/genetics/*physiology ; *Genome, Bacterial ; Mutagenesis ; Mycoplasma mycoides/*genetics ; Proteins/genetics ; RNA/genetics ; Synthetic BiologyPublished by: -
2Articles: DFG German National LicensesChuang, G. S. ; Martinez-Mir, A. ; Yu, H.-S. ; Sung, F.-Y. ; Chuang, R. Y. ; Cserhalmi-Friedman, P. B. ; Christiano, A. M.
Oxford, UK : Blackwell Science Ltd
Published 2004Staff ViewISSN: 1365-2230Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: Epidermolysis bullosa (EB) pruriginosa is a subtype of dominant dystrophic EB (DDEB), characterized by severe pruritus and blistering localized to the extensor surface of the extremities. EB pruriginosa exhibits extensive clinical heterogeneity with variable expression and delayed age of onset. Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB. Here, we report a novel COL7A1 mutation in a Taiwanese pedigree with EB pruriginosa. Using PCR and direct sequence analysis we have identified a G→T transversion at nucleotide 7097 in exon 92 of COL7A1, converting a glycine residue to valine (G2366V). The mutation resides within a consecutive, uninterrupted stretch of 17 Gly-X-Y residues in the triple-helical domain of type VII collagen. Interestingly, an affected member of this family also displayed elevated IgE levels, previously reported in some patients with this disorder. Our finding further implicates COL7A1 mutation in the pathogenesis of EB pruriginosa and underscores the heterogeneous clinical symptoms of glycine mutations in DDEB.Type of Medium: Electronic ResourceURL: