12 results on '"Nakamura, Hideki"'
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2. A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene
3. Mitotic recombination causes frequent somatic reversion of a dominant KRT1 mutation in ichthyosis hystrix Curth-Macklin
4. One amino acid deletion in collagen XVII-binding domain of plectin with a truncation mutation underlies epidermolysis bullosa simplex
5. A single laminin subunit deficiency alters other laminin expression depending on the mutated genes
6. A recurrent ‘hot spot’ glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII
7. Monoclonal human IgG1 and IgG4 against COL17 induce skin fragility in neonatal COL17-humanized mice in a complement-independent manner
8. The mitochondrial fusion proteins Mfn1 and Mfn2 are involved in the skin keratinization
9. Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome
10. ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia
11. An immunohistochemical study of GVHD-like skin lesion induced in aly/aly mice transplanted with B6 bone marrow cells
12. An immunohistochemical study of GVHD-like skin lesion induced in aly/alymice transplanted with B6 bone marrow cells
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