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      Baran & Dawber's Diseases of the Nails and their Management 

      Science of the Nail Apparatus

      edited_book
      ,
      Blackwell Publishing Ltd.

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          New consensus nomenclature for mammalian keratins

          Keratins are intermediate filament–forming proteins that provide mechanical support and fulfill a variety of additional functions in epithelial cells. In 1982, a nomenclature was devised to name the keratin proteins that were known at that point. The systematic sequencing of the human genome in recent years uncovered the existence of several novel keratin genes and their encoded proteins. Their naming could not be adequately handled in the context of the original system. We propose a new consensus nomenclature for keratin genes and proteins that relies upon and extends the 1982 system and adheres to the guidelines issued by the Human and Mouse Genome Nomenclature Committees. This revised nomenclature accommodates functional genes and pseudogenes, and although designed specifically for the full complement of human keratins, it offers the flexibility needed to incorporate additional keratins from other mammalian species.
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            Optical coherence tomography of the human skin.

            Optical coherence tomography (OCT) is a new diagnostic method for tissue characterization. We investigated normal and pathologic structures in human skin in several locations to evaluate the potential application of this technique to dermatology. Based on the principle of low-coherence interferometry, cross-sectional images of the human skin can be obtained in vivo with a high spatial resolution of about 15 microns. Within a penetration depth of 0.5 to 1.5 mm, structures of the stratum corneum, the living epidermis, and the papillary dermis can be distinguished. Different layers could be detected that were differentiated by induction of experimental blisters and by comparison with corresponding histologic sections. Furthermore, OCT images of several skin diseases and tumors were obtained. OCT is a promising new imaging method for visualization of morphologic changes of superficial layers of the human skin. It may be useful for noninvasive diagnosis of bullous skin diseases, skin tumors, and in vivo investigation of pharmacologic effects.
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              Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

              Dorsal-ventral limb patterning in vertebrates is thought to be controlled by the LIM-homeodomain protein Lmx1b which is expressed in a spatially and temporally restricted manner along the dorsal-ventral limb axis. Here we describe the phenotype resulting from targeted disruption of Lmx1b. Our results demonstrate that Lmx1b is essential for the specification of dorsal limb fates at both the zeugopodal and autopodal level with prominent phenotypes including an absence of nails and patellae. These features are similar to those present in a dominantly inherited human condition called nail patella syndrome (NPS), which also has renal involvement. Mouse Lmx1b maps to a region syntenic to that of the NPS gene, and kidneys of Lmx1b mutant mice exhibit pathological changes similar to that observed in NPS (refs 5,6). Our results demonstrate an essential function for Lmx1b in mouse limb and kidney development and suggest that NPS might result from mutations in the human LMX1B gene.
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                Book Chapter
                May 23 2012
                : 1-50
                10.1002/9781118286715.ch1
                5550d44a-6675-4e38-9d66-d84d8d82e5a0
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