335 research outputs found

    The Relationship between Autoimmune Bullous Disease and Systemic Disorders

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    Genetics of Cutaneous Melanoma

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    A portion of melanoma is familial and has been associated with atypical mole syndrome. This review outlines the current understanding of the genetics of melanoma and the relationship to cutaneous nevus phenotypes. A review of genetic studies of melanoma is presented, including linkage studies. Data from a linkage study of 12 Utah kindreds and one Texas kindred are detailed.There is strong evidence both for a genetic component to melanoma and, to a lesser extent, for a genetic component to the atypical mole phenotype. Reports of linkage of melanoma/dysplastic nevus syndrome to chromosome 1p markers are now strongly in doubt. The Utah group has shown strong evidence of linkage of melanoma to chromosome 9p21 without evidence for heterogeneity. This is in the same region where chromosomal deletions are common in tumors of numerous tissues.We conclude that there is a specific melanoma susceptibility locus located on chromosome 9p. The combination of the results of linkage in families with multiple cases of melanoma and the deletion of this chromosomal region in sporadic cases of melanoma strongly suggests that this melanoma susceptibility locus acts as a tumor suppressor. J Invest Dermatol 103:112S-116S, 199

    IgA Autoimmune Disorders: Development of a Passive Transfer Mouse Model

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    IgA is present in the skin in several dermatoses, including dermatitis herpetiformis, linear IgA bullous dermatosis, and Henoch-Schoenlein purpura. The neutrophilic infiltration in the area of the IgA deposition suggests that IgA is responsible for the associated inflammatory events. The mechanism for this process is unproven, but is likely to involve IgA-mediated neutrophil chemotaxis with inhibition of chemotaxis by dapsone. Elucidation of the mechanism of IgA-mediated inflammation will require an animal model. We have established a model for linear IgA bullous dermatosis as a prototype disease to be studied. IgA mouse monoclonal antibodies against a linear IgA bullous dermatosis antigen have been passively transferred to SCID mice with human skin grafts. This has produced neutrophil infiltration and basement membrane vesiculation in 4 of 12 mice tested. We conclude that an animal model for the pathogenesis of IgA dermatoses with IgA deposition and inflammation can be produced by passive transfer of mouse IgA antibodies against a linear IgA antigen

    Population-Based Prevalence of CDKN2A Mutations in Utah Melanoma Families

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    Cyclin-dependent kinase inhibitor 2A (CDKN2A or p16) is the major melanoma predisposition gene. In order to evaluate the candidacy for genetic testing of CDKN2A mutations among melanoma prone families, it is important to identify characteristics that predict a high likelihood of carrying a CDKN2A mutation. We primarily used a unique Utah genealogical resource to identify independent melanoma prone families whom we tested for mutations in CDKN2A, cyclin-dependent kinase 4, and alternate reading frame. We sampled 60 families which met the inclusion criteria of two or more affected first-degree relatives. We found four different pathogenic CDKN2A mutations in five families, mutations of uncertain significance in two families, and known polymorphisms in three families. One of the mutations of uncertain significance, 5′ untranslated region −25C>T, has not been previously described. Among our population-based set of Utah families, the prevalence of CDKN2A mutations was 8.2% (4/49); the overall prevalence when physician-referred pedigrees were also considered was between 8.3% (5/60) and 10% (6/60). Having four or more first- or second-degree relatives with melanoma, or a family member with ≥3 primary melanomas, correlated strongly with carrying a CDKN2A mutation. We observed a significantly elevated rate of pancreatic cancer in one of four families with a deleterious CDKN2A mutation

    Statistical mechanics of columnar DNA assemblies

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    Many physical systems can be mapped onto solved or "solvable" models of magnetism. In this work, we have mapped the statistical mechanics of columnar phases of ideally helical rigid DNA -- subject to the earlier found unusual, frustrated pair potential [A. A. Kornyshev and S. Leikin, J. Chem. Phys. 107, 3656 (1997)] -- onto an exotic, unknown variant of the XY model on a fixed or restructurable lattice. Here the role of the 'spin' is played by the azimuthal orientation of the molecules. We have solved this model using a Hartree-Fock approximation, ground state calculations, and finite temperature Monte Carlo simulations. We have found peculiar spin order transitions, which may also be accompanied by positional restructuring, from hexagonal to rhombohedric lattices. Some of these have been experimentally observed in dense columnar aggregates. Note that DNA columnar phases are of great interest in biophysical research, not only because they are a useful in vitro tool for the study of DNA condensation, but also since these structures have been detected in living matter. Within the approximations made, our study provides insight into the statistical mechanics of these systems.Comment: 19 pages, 18 figure

    Repair Wind Field of Oil Spill Regional Using SAR Data

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    In this paper, we compared the normalized radar cross section (NRCS) of the synthetic aperture radar in the cases of oil spill and clean sea areas with image samples and determined their thresholds of the NRCS of SAR. we used the NRCS of clean water from the adjacent patches spill area to replace NRCS of oil spill area and retrieval wind field by CMOD5.N and comparison of wind velocity mending of oil spill with Model data the root mean square of wind speed and wind direction inversion are 0.89m/s and 20.26 satisfactory results, respectively. Therefore, after the occurrence not large scale oil spill, the real wind field could be restored by this method.&nbsp

    A meta-analysis of the publicly available bacterial and archaeal sequence diversity in saline soils

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    An integrated view of bacterial and archaeal diversity in saline soil habitats is essential for understanding the biological and ecological processes and exploiting potential of microbial resources from such environments. This study examined the collective bacterial and archaeal diversity in saline soils using a meta-analysis approach. All available 16S rDNA sequences recovered from saline soils were retrieved from publicly available databases and subjected to phylogenetic and statistical analyses. A total of 9,043 bacterial and 1,039 archaeal sequences, each longer than 250 bp, were examined. The bacterial sequences were assigned into 5,784 operational taxonomic units (OTUs, based on a parts per thousand yen97 % sequence identity), representing 24 known bacterial phyla, with Proteobacteria (44.9 %), Actinobacteria (12.3 %), Firmicutes (10.4 %), Acidobacteria (9.0 %), Bacteroidetes (6.8 %), and Chloroflexi (5.9 %) being predominant. Lysobacter (12.8 %) was the dominant bacterial genus in saline soils, followed by Sphingomonas (4.5 %), Halomonas (2.5 %), and Gemmatimonas (2.5 %). Archaeal sequences were assigned to 602 OTUs, primarily from the phyla Euryarchaeota (88.7 %) and Crenarchaeota (11.3 %). Halorubrum and Thermofilum were the dominant archaeal genera in saline soils. Rarefaction analysis indicated that less than 25 % of bacterial diversity, and approximately 50 % of archaeal diversity, in saline soil habitats has been sampled. This analysis of the global bacterial and archaeal diversity in saline soil habitats can guide future studies to further examine the microbial diversity of saline soils.An integrated view of bacterial and archaeal diversity in saline soil habitats is essential for understanding the biological and ecological processes and exploiting potential of microbial resources from such environments. This study examined the collective bacterial and archaeal diversity in saline soils using a meta-analysis approach. All available 16S rDNA sequences recovered from saline soils were retrieved from publicly available databases and subjected to phylogenetic and statistical analyses. A total of 9,043 bacterial and 1,039 archaeal sequences, each longer than 250 bp, were examined. The bacterial sequences were assigned into 5,784 operational taxonomic units (OTUs, based on a parts per thousand yen97 % sequence identity), representing 24 known bacterial phyla, with Proteobacteria (44.9 %), Actinobacteria (12.3 %), Firmicutes (10.4 %), Acidobacteria (9.0 %), Bacteroidetes (6.8 %), and Chloroflexi (5.9 %) being predominant. Lysobacter (12.8 %) was the dominant bacterial genus in saline soils, followed by Sphingomonas (4.5 %), Halomonas (2.5 %), and Gemmatimonas (2.5 %). Archaeal sequences were assigned to 602 OTUs, primarily from the phyla Euryarchaeota (88.7 %) and Crenarchaeota (11.3 %). Halorubrum and Thermofilum were the dominant archaeal genera in saline soils. Rarefaction analysis indicated that less than 25 % of bacterial diversity, and approximately 50 % of archaeal diversity, in saline soil habitats has been sampled. This analysis of the global bacterial and archaeal diversity in saline soil habitats can guide future studies to further examine the microbial diversity of saline soils
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