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Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China (2005)

Liang, Y.H. ; Gao, M. ; Sun, L.D. ; [et al.]

Oxford, UK : Blackwell Science Ltd

British journal of dermatology 153 (2005), S. 0

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ISSN: 1365-2133

Source: Blackwell Publishing Journal Backfiles 1879-2005

Topics: Medicine

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1111/j.1365-2133.2005.06960.x

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Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1·1-cM interval at 8p21.3 (2004)

He, P.P. ; Zhang, X.J. ; Yang, Q. ; [et al.]

Oxford, UK : Blackwell Science Ltd

British journal of dermatology 150 (2004), S. 0

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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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The genetic epidemiology of alopecia areata in China (2004)

Yang, S. ; Yang, J. ; Liu, J.B. ; [et al.]

Oxford, UK : Blackwell Science Ltd

British journal of dermatology 151 (2004), S. 0

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ISSN: 1365-2133

Source: Blackwell Publishing Journal Backfiles 1879-2005

Topics: Medicine

Notes: Background Alopecia areata (AA) is hypothesized to be an organ-specific autoimmune disease with genetic predisposition and an environmental trigger. There are few clinical data in Asians.Objectives To describe the genetic epidemiological features of AA patients in China and to determine the possible genetic model for AA.Methods Data for 1032 patients with AA were obtained by questionnaire in the Institute of Dermatology of Anhui Medical University in China from 2001 to 2003. Complex segregation analysis and heritability analysis were performed using Falconer's method, EPI INFO 6·0 and SAGE-REGTL programs.Results In total, 1032 AA patients (male/female ratio 1·1 : 1) were enrolled, representing 0·94% of the total number of cases seen in our outpatient clinic during that time. The mean ± SD age of onset was 28·98 ± 13·43 years. The difference between the mean age of onset in males and females was not significant. Most patients (82·6%) experienced their first episode of AA within the first four decades of life. A positive family history of AA was obtained in 87 patients (8·4%). The prevalence of AA in first-, second- and third-degree relatives of the proband with AA was 1·6%, 0·19% and 0·03%, respectively. These figures were higher than those in controls. A greater severity and longer duration of AA were seen in the early onset group than in the late-onset group. The early onset group also had more affected first- and second-degree relatives. The heritability of AA in first-, second- and third-degree relatives was 47·16%, 42·53% and 22·29%, respectively. Based on the REGTL results, the best model was a polygenic additive model for AA.Conclusions The effect of genetic factors is strong in AA, but environmental factors such as infection and psychological stress may still play an important role. Our findings on the genetics of AA are consistent with a polygenic additive mode of inheritance.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1111/j.1365-2133.2004.05915.x

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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)

He, P.P. ; He, C.D. ; Cui, Y. ; [et al.]

Oxford, UK : Blackwell Science Ltd

British journal of dermatology 150 (2004), S. 0

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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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Immunotolerant indoleamine-2,3-dioxygenase increases in condyloma acuminata (2017)

Z. Xie, M. Zhang, W. Xiong, H.Y. Wan, X.C. Zhao, T. Xie, H. Lei, Z.C. Lin, D.S. Luo, X.L. Liang, Y.H. Chen

Wiley-Blackwell

In: British Journal of Dermatology

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Publication Date: 2017-01-30

Description: Background The tryptophan-depleting enzyme indoleamine-2,3-dioxygenase (IDO) is critical for the regulation of immune tolerance and plays an important role in immune-associated skin diseases. Objectives To analyze the level of IDO in condyloma acuminata (CA) and its role in this condition. Methods IDO expression was assessed in the skin and peripheral blood of healthy subjects and patients with CA. To assess the role of skin IDO in immunity, the ability of isolated epidermal cells to metabolize tryptophan and the influence on polyclonal T cell mitogen (PHA)-stimulated T cell proliferation were explored. Results IDO median fluorescence intensities (MFIs) in peripheral blood mononuclear cells (PBMCs) from CA patients were similar to those from healthy controls. Immunohistochemistry showed that IDO(+) cells were rare in normal skin and the control skin of CA patients but were greatly accumulated in wart tissue. Most fluorescence signals of IDO(+) cells were not overlapping with those of CD1a(+) Langerhans cells (LCs). HPV DNA probe in situ hybridization showed a large number of IDO(+) cells in the HPV(-) site. Keratinocytes (KCs) in the skin of healthy subjects and the circumcised skin of CA patients could minimally transform tryptophan into kynurenine, but IDO-competent epidermal cells from warts could transform tryptophan. In addition, these IDO-competent epidermal cells could inhibit PHA-stimulated T cell proliferation. The addition of an IDO inhibitor 1-MT restored the inhibited T cell proliferation. Conclusion Abnormally localized high IDO expression might be involved in the formation of a local immune tolerant microenvironment. This article is protected by copyright. All rights reserved.

Print ISSN: 0007-0963

Electronic ISSN: 1365-2133

Topics: Medicine

Published by Wiley-Blackwell

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