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Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

Article Abstract:

Molecular biological techniques were used to investigate revertant mosaicism observed in a patient with generalized atrophic benign epidermolysis bullosa. The results confirmed that the clinical condition is caused by mitotic gene conversion of one of the two mutated COL17A1 alleles. Such reverse mutation was shown to be due to the nonreciprocal transfer of a part of one parental allele for the other.

Author: Uitto, Jouni, Pulkkinen, Leena, Scheffer, Hans, Jonkman, Marcel F., Stulp, Rein, Pas, Hendri H., Nijenhuis, Miranda, Heeres, Klaas, Owaribe, Katsushi
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
Research, Usage, Polymerase chain reaction, Mosaicism, Electron microscopy, Keratinocytes, Immunofluorescence, Fluorescent antibody technique, Cell culture, Tissue culture, Western immunoblotting, Western blot, Epidermolysis bullosa

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A common mechanism for microtubule destabilizers-M type kinesins stabilizes curling of the protofilament using the class-specific neck and loops

Article Abstract:

The mechanism of MT depolymerization by KIF-Ms is explored by solving the crystal structure of the minimal functional domain of mouse KIF2C, a member of KIF-M, in two different nucleotide states. The mutational analysis to support the structural implications is presented and a structural model for the mechanism for MT depolymerization by KIF-M is proposed.

Author: Tadayuki Ogawa, Nitta, Ryo, Yasushi Okada, Nobutaka Hirokawa
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2004
Domain structure, Crystals, Crystal structure

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Structural features of the GroEL-GroES nano-cage required for rapid folding of encapsulated protein

Article Abstract:

Research reveals that GroEL and GroES form a chaperonin nano-cage for proteins to fold in isolation. A mutational analysis of the GroEL cavity was performed to explore the structural features of the chaperonin cage for rapid folding of encapsulated substrates.

Author: Hartl, F. Ulrich, Yun-Chi Tang; Hung-Chun Chang, Roeben, Annette; Wischnewski, Dirk, Wischnewski, Nadine; Kerner, Miachel J., Hayer-Hartl; Manajit
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2006
Molecular chaperones

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Subjects list: Analysis, Gene mutations, Gene mutation
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