• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.20 no.1 s.32
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• pp.265-284
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• 2007

Introduction : There are three major forms of Epidermolysis Bullosa(EB) - EB Simplex(EBS), Junctional EB(JEB) and Dystrophic EB(DEB). DEB is divided into two groups that Dominant DEB(DDEB) and Recessive DEB(RDEB). RDEB has two types that Hallopeau-Siemens(generalized type) and mitis(localized type). Objects : This study was carried out to observe the progress of Recessive Dystrophic Epidermolysis Bullosa-mitis(RDEB-mitis) disease and find effective remedy. Methods: Both diagnosis and treatment were divided into three groups voluntarily. l. diagnosis - dermatic symptoms, mucosal symptoms, general symptoms 2. treatment - herbal medications, moxibustion, medicines used extemally(外用藥) Results : After treating 9 months, the condition of the patient grew better and the grades of severity of ROEB-mitis disease were lower at each diagnosis item. Conclusions : As above results, oriental medical treatments were very effective for this disease. But more case studies are necessary for establishing more effective diagnosis and treatment methods.

• Molecules and Cells
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• v.23 no.2
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• pp.228-238
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• 2007

Since molecular structure of hnRNP is not available in foreseeable future, it is best to construct a working model for hnRNP structure. A geometric problem, assembly of $700{\pm}20$ nucleotides with 48 proteins, is visualized by a frame work in which all the proteins participate in primary binding, followed by secondary, tertiary and quaternary binding with neighboring proteins without additional import. Thus, 40S hnRNP contains crown-like secondary structure (48 stemloops) and appearance of 6 petal (octamers) rose-like architectures. The proteins are wrapped by RNA. Co-transcriptional folding for RNP fibril of FMR1 gene can produce 2,571 stem-loops with frequency of 1 stem-loop/15.3 nucleotides and 53 40S hnRNP beaded structure. By spliceosome driven reactions, there occurs removal of 16 separate lariated RNPs, joining 17 separate beaded exonic structures and anchoring EJC on each exon junction. Skipping exon 12 has 5'GU, 3'AG and very compact folding pattern with frequency of 1 stem-loop per 12 nucleotides in short exon length (63 nucleotides). 5' end of exon 12 contains SS (Splicing Silencer) element of UAGGU. In exons 10, 15 and 17 where both regular and alternative splice sites exist, SS (hnRNP A1 binding site) is observed at the regular splicing site. End products are mature FMR-1 mRNP, 4 species of Pri-microRNAs derived from introns 7,9,15 and 3'UTR of exon17, respectively. There may also be some other regulatory RNAs containing ALU/Line elements as well.