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  • 1
    Electronic Resource
    Electronic Resource
    Refined localization of a punctate palmoplantar keratoderma gene to a 5·06-cM region at 15q22.2–15q22.31 (2005)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 152 (2005), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13–8q24.21 and 15q22–15q24. However, no genes for this disease have been identified to date.Objectives  To refine the previously mapped regions and to identify the disease gene locus in a four-generation Chinese family with punctate PPK.Methods  Genetic linkage analysis was carried out in this family using microsatellite markers on chromosomes 8q and 15q. Two-point linkage analysis was performed using Linkage programs version 5·10 and the haplotype was constructed using Cyrillic version 2·02 software.Results  We failed to confirm our previous locus at 8q24.13–8q24.21, but significant evidence for linkage was observed in the region of 15q with a maximum two-point LOD score of 5·38 at D15S153 (θ = 0·00). Haplotype analysis localized the punctate PPK locus within the region defined by D15S651 and D15S988. This region overlaps by 5·06 cM with the previously reported punctate PPK region.Conclusions  This study refines a disease gene causing punctate PPK to a 5·06-cM interval at 15q22.2–15q22.31.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2005.06488.x
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  • 2
    Electronic Resource
    Electronic Resource
    Mechanical strain enhances proteoglycan message in fibroblasts from asthmatic subjects (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical & experimental allergy 34 (2004), S. 0 
    Details
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Remodelling of the asthmatic airway includes increased deposition of proteoglycan (PG) molecules. One of the stimuli driving airway remodelling may be excessive mechanical stimulation.Objective We hypothesized that fibroblasts from asthmatic patients would respond to excessive mechanical strain with up-regulation of message for PGs.Methods We obtained fibroblasts from asthmatic patients (AF) and normal volunteers (NF) using endobronchial biopsy. Cells were maintained in culture until the fifth passage and then grown on a flexible collagen-coated membrane. Using the Flexercell device, cells were then subjected to cyclic stretch at 30% amplitude at 1 Hz for 24 h. Control cells were unstrained. Total RNA was extracted from the cell layer and quantitative RT-PCR performed for decorin, lumican and versican mRNA.Results In unstrained cells, the expression of decorin mRNA was greater in AF than NF. With strain, NF showed increased expression of versican mRNA and AF showed increased expression of versican and decorin mRNA. The relative increase in versican mRNA expression with strain was greater in AF than NF.Conclusions These data support the hypothesis that proteoglycan message is increased in asthmatic fibroblasts subject to mechanical strain. This finding has implications for the mechanisms governing airway wall remodelling in asthma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2222.2004.01980.x
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  • 3
    Electronic Resource
    Electronic Resource
    A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A→G transition at position 2879 in exon 10 of the DSRAD gene was detected.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01548.x
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  • 4
    Electronic Resource
    Electronic Resource
    Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder with progressive hair loss starting in early childhood and aggravating at puberty. Several studies have mapped the MUHH gene to chromosome 8p21. Here we report a Chinese MUHH family with variable phenotypes. All affected individuals have anomalies affecting both hair density and hair shafts. Major clinical characteristics, disease history and histological examination support the diagnosis of MUHH, but the features of scarring in this kindred are modest and none of the patients have vertex hair loss, which is in contrast with typical MUHH. We now report genotyping and linkage analysis using 11 polymorphic microsatellite markers spanning the MUHH locus at 8p. Two-point linkage analysis using these markers revealed significant exclusion of this locus (log of the odds scores 〈 − 2) at θ = 0 indicating that there is a range of clinical presentations in MUHH, and that more than one genetic locus is responsible for the disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01570.x
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  • 5
    Electronic Resource
    Electronic Resource
    A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis (2005)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 152 (2005), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated.Objectives  To determine the locus of DSAP and identify the candidate gene(s) of the disease.Methods  Genome-wide scan and linkage analysis were performed in a six-generation Chinese family with DSAP. The coding exons of the candidate genes were sequenced to analyse and detect the nucleotide variations.Results  Linkage analysis showed that the maximum two-point lod score of 5·56 was obtained with the marker D12S79 at a recombination fraction θ of 0·00. Haplotype analysis defined the critical region for DSAP between D12S330 and D12S1612 on 12q24.1–24.2. By sequence analysis, we found a Val591Met mutation in SART3 in all affected individuals of the family.Conclusion  SART3 is a candidate gene for DSAP, and is possibly involved in the pathogenesis of DSAP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2005.06443.x
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  • 6
    Electronic Resource
    Electronic Resource
    Refined localization of dyschromatosis symmetrica hereditaria gene to a 9·4-cM region at 1q21–22 and a literature review of 136 cases reported in China (2004)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 150 (2004), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules on the extremities, which has recently been mapped to an 11·6-cM interval on chromosome 1q11–21. So far, most cases of DSH have been reported in Japan and dermatologists around the world might think this disorder mainly occurs in Japan. In fact, there are 17 DSH families including 136 cases reported in China since 1980, but most of them are described in Chinese.Objectives  To refine the previously mapped region that facilitates the identification of the DSH gene and to delineate the clinical and genetic features of Chinese DSH cases by a literature review of 136 cases reported in China.Methods  We performed genotyping and linkage analysis using polymorphic microsatellite markers at 1q11–22 in two Chinese DSH families, and reviewed all of the DSH cases reported in China since 1980.Results  A cumulative maximum two-point lod score of 3·68 was produced with marker D1S506 at a recombination frequency of θ = 0·00 in these two families. Haplotype analysis refined the DSH locus to a 9·4-cM interval flanked by D1S2343 and D1S2635. The genetic and clinical features of Chinese cases with DSH were summarized. In some Chinese cases, hyperpigmented and hypopigmented macules were scattered on the neck and chest, but among Japanese patients there were no similar skin lesions to be reported on these sites.Conclusions  This study confirms linkage of DSH to a previously mapped region and refines the DSH gene to a 9·4-cM interval at 1q21–22. Likewise, the literature review indicates that DSH is not an uncommon disorder in China and the differences in the distribution of skin lesions could be related to race and environment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.0007-0963.2004.05861.x
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  • 7
    Electronic Resource
    Electronic Resource
    Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1·1-cM interval at 8p21.3 (2004)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 150 (2004), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal congenital alopecia with progressive hair loss starting in early childhood and accelerating at puberty. A locus for MUHH has been mapped on chromosome 8p21 but no genes for MUHH have been identified to date.Objectives  To refine the MUHH locus to a narrow chromosome region to facilitate cloning of the gene.Methods  We performed genotyping and linkage analysis in a multigeneration Chinese family with MUHH, using 18 high-density microsatellite markers spanning the previously mapped interval at 8p21.Results  Significant evidence for linkage was observed in this region, with a maximum two-point LOD score of 3·01 (θ = 0). Haplotype analysis localized the MUHH locus within the region defined by D8S282 and D8S1839. This region overlaps by 1·1-cM with the previously reported MUHH region and represents a physical distance of about 380 kb.Conclusions  This study provides a refined map location (1·1 cM) for isolation of the gene causing MUHH. These data also indicate the existence of a common MUHH locus at 8p21.3 between affected caucasian and Chinese families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2004.05913.x
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  • 8
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    Dendritic Cell-MHC Class II and Itk Regulate Functional Development of Regulatory Innate Memory CD4+ T Cells in Bone Marrow Transplantation [TRANSPLANTATION] (2014)
    The American Association of Immunologists (AAI)
    Details
    Publication Date: 2014-03-22
    Description: MHC class II (MHCII)–influenced CD4 + T cell differentiation and function play critical roles in regulating the development of autoimmunity. The lack of hematopoietic MHCII causes autoimmune disease that leads to severe wasting in syngeneic recipients. Using murine models of bone marrow transplantation (BMT), we find that MHCII –/– -〉wild-type BMT developed disease, with defective development of innate memory phenotype (IMP, CD44 hi /CD62L lo ) CD4 + T cells. Whereas conventional regulatory T cells are unable to suppress pathogenesis, IMP CD4 + T cells, which include conventional regulatory T cells, can suppress pathogenesis in MHCII –/– -〉wild-type chimeras. The functional development of IMP CD4 + T cells requires hematopoietic but not thymic MHCII. B cells and hematopoietic CD80/86 regulate the population size, whereas MHCII expression by dendritic cells is sufficient for IMP CD4 + T cell functional development and prevention of pathogenesis. Furthermore, the absence of Tec kinase IL-2–inducible T cell kinase in MHCII –/– donors leads to preferential development of IMP CD4 + T cells and partially prevents pathogenesis. We conclude that dendritic cells-MHCII and IL-2–inducible T cell kinase regulate the functional development of IMP CD4 + T cells, which suppresses the development of autoimmune disorder in syngeneic BMTs.
    Print ISSN: 0022-1767
    Electronic ISSN: 1550-6606
    Topics: Medicine
    Published by The American Association of Immunologists (AAI)
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  • 9
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    Enhancer of Zeste Homolog 2 Is a Negative Regulator of Mitochondria-Mediated Innate Immune Responses [INNATE IMMUNITY AND INFLAMMATION] (2013)
    The American Association of Immunologists (AAI)
    Details
    Publication Date: 2013-08-21
    Description: The intracellular RIG-I–like receptors recognize 5'-triphosphate viral genomic RNA and initiate the production of cytokines through mitochondria adaptor VISA. The regulation of this signal pathway is largely unknown. In this study, we report that the histone methyltransferase enhancer of zeste homolog 2 (EZH2) inhibits RIG-I signal pathway in an methyltransferase-independent manner. Knockdown EZH2 expression enhances VISA-induced activation of IFN-β promoter and NF-B signaling. Cytosolic distributed EZH2 colocalizes with VISA and binds to its caspase recruitment domain (CARD), thus blocking its association with RIG-I. During the infection of influenza A virus (IAV) strain A/WSN/33 (WSN), EZH2 translocates to RIG-I and continuously interferes the interaction between RIG-I and VISA. Both N and C termini of EZH2 interact with VISA and attenuate its downstream signaling. WSN virus infection–induced expression of TNF-α , IFN-β , and IL-8 is inhibited by EZH2 and its catalytic dead form SET. EZH2 overexpression facilitates the replications of IAV strains WSN and A/Puerto Rico/8/34 influenza virus. Knockdown EZH2 expression activates infection-induced IFN-β transcription and inhibits virus replication. We further provided evidence to show that pharmacological disruption of EZH2 expression by its inhibitor 3-deazaneplanocin A activates innate immune responses and attenuates the replication of WSN virus in HeLa, MDCK, and mouse primary bone marrow–derived macrophages, but not in IFN-deficient Vero cells. Collectively, these results revealed that EZH2 binds to VISA and interferes with the interaction between VISA and RIG-I. Targeting EZH2 activates mitochondria-mediated antiviral innate immune responses, and thus represses the replication of IAV in cells.
    Print ISSN: 0022-1767
    Electronic ISSN: 1550-6606
    Topics: Medicine
    Published by The American Association of Immunologists (AAI)
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  • 10
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    CCL19 and CCL28 Augment Mucosal and Systemic Immune Responses to HIV-1 gp140 by Mobilizing Responsive Immunocytes into Secondary Lymph Nodes and Mucosal Tissue [MUCOSAL IMMUNOLOGY] (2013)
    The American Association of Immunologists (AAI)
    Details
    Publication Date: 2013-08-03
    Description: Induction of broad and potent neutralizing Abs at the mucosal portals of entry remains a primary goal for most vaccines against mucosally acquired viral infections. Selection of appropriate adjuvants capable of promoting both systemic and mucosal responses will be crucial for the development of effective immunization strategies. In this study, we investigated whether plasmid codelivery of cytokines APRIL, CCL19, or CCL28 can enhance Ag-induced immune responses to HIV-1 gp140. Our results demonstrated that pCCL19 and pCCL28, but not pAPRIL, significantly enhanced Ag-specific systemic and mucosal Ab responses. gp140-specific Abs in serum enhanced by pCCL19 or pCCL28 were broadly distributed across all four IgG subclasses, of which IgG1 was predominant. The enhanced systemic and mucosal Abs showed increased neutralizing activity against both homologous and heterologous HIV-1, and potency correlated with gp140-specific serum IgG and vaginal IgA levels. Measurement of gp140-specific cytokines produced by splenocytes demonstrated that pCCL19 and pCCL28 augmented balanced Th1/Th2 responses. pCCL19 and pCCL28 also increased IgA + cells in colorectal mucosal tissue. pCCL19 codelivery resulted in an increase of CCR7 + CD11c + cells in mesenteric lymph nodes and both CCR7 + CD11c + cells and CCR7 + CD3e + cells in spleen, whereas pCCL28 codelivery resulted in an augment of CCR10 + CD19 + cells in both spleen and mesenteric lymph nodes. Together, our data indicate that pCCL19 and pCCL28 can enhance HIV-1 envelope–specific systemic and mucosal Ab responses, as well as T cell responses. Such enhancements appear to be associated with mobilization of responsive immunocytes into secondary lymphoid organs and mucosal tissues through interactions with corresponding receptors.
    Print ISSN: 0022-1767
    Electronic ISSN: 1550-6606
    Topics: Medicine
    Published by The American Association of Immunologists (AAI)
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