Concepedia

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

Haihui Liao, Yiwei Zhao, David Baty, John A. McGrath, Jemima E. Mellerio, W.H. Irwin McLean

Journal of Investigative Dermatology · 2006 · 58 citations · 8 references

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8

Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Regina C. Betz, Laura Planko, Sibylle Eigelshoven et al. · The American Journal of Human Genetics · 2006 · 267 citations · Full text

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Acroplaxome, an F-Actin–Keratin-containing Plate, Anchors the Acrosome to the Nucleus during Shaping of the Spermatid Head

Abraham L. Kierszenbaum, Eugene Rivkin, Laura L. Tres · Molecular Biology of the Cell · 2003 · 220 citations · Full text

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The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.

J. Uttam, Elizabeth R. Hutton, Pierre A. Coulombe et al. · Proceedings of the National Academy of Sciences · 1996 · 178 citations

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Structure of Tctex-1 and Its Interaction with Cytoplasmic Dynein Intermediate Chain

Yu‐Keung Mok, Kevin W.‐H. Lo, Mingjie Zhang · Journal of Biological Chemistry · 2001 · 112 citations · Full text

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The actin-based motor myosin Va is a component of the acroplaxome, an acrosome-nuclear envelope junctional plate, and of manchette-associated vesicles

Abraham L. Kierszenbaum, Eugene Rivkin, Laura L. Tres · Cytogenetic and Genome Research · 2003 · 84 citations

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