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1. A novel mutation of the POFUT1 gene in a Chinese family with Dowling-Degos Disease | |||
ZHANG Guolong,DU Xufeng,NI Cheng,LI Ming | |||
Clinical Medicine 21 April 2017 | |||
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Abstract:Dowling-Degos disease (DDD [MIM:179850, 615327, and 615674]) is a rarely encountered pigmentary disorder in which small brown-to-black macules appear in a clustered or reticulated pattern primarily at flexural sites. Loss-of-function mutations in keratin 5 (KRT5) were identified in fewer than half of DDD patients in the past. Recently, POFUT1 and POGLUT1 genes also have been identified as causative genetic defects in DDD. Here, we failed to detect any mutations in the POGLUT1 or KRT5 gene, and a heterozygous nonsense mutation c.485C>A (p.S162X) was identified in gene in a Chinese family with DDD. Our data suggests that this novel mutation in the POFUT1gene could cause DDD and add new variants to the repertoire of POFUT1 mutations in DDD. | |||
TO cite this article:ZHANG Guolong,DU Xufeng,NI Cheng, et al. A novel mutation of the POFUT1 gene in a Chinese family with Dowling-Degos Disease[OL].[21 April 2017] http://en.paper.edu.cn/en_releasepaper/content/4728015 |
2. Disseminate and recurrent infundibulofolliculitis | |||
CHEN Hongxiang,LI Yanqiu,ZHANG Jin,YU Ying,WANG Chunsen,HUANG Changzheng | |||
Clinical Medicine 10 February 2011 | |||
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Abstract:Disseminate and recurrent infundibulofolliculitis (DRIF) is an uncommon pruritic follicular eruption of unknown etiology that is predominantly seen in black men. This condition tends to affect the trunk and upper extremities and is usually unresponsive to local and systemic treatment. Herein, we report a 28-year-old women presented with an asymptomatic brown eruption of 4 years duration. She had brown-colored follicular papules involving predominantly over the neck, chest and abdomen. Histopathology revealed spongiosis of the follicular infundibulum and infiltration with lymphocytes and neutrophils. Treatment with oral vitamin A and topical retinoic acid was ineffective. | |||
TO cite this article:CHEN Hongxiang,LI Yanqiu,ZHANG Jin, et al. Disseminate and recurrent infundibulofolliculitis[OL].[10 February 2011] http://en.paper.edu.cn/en_releasepaper/content/4409610 |
3. IGFBP7, a novel immunohistochemical marker in differentiating dermatofibroma from dermatofibrosarcoma protuberans | |||
YU Ying,YAN Xiaofeng,LI Juan,LI Jiawen,TU Yating,CHEN Hongxiang | |||
Clinical Medicine 26 January 2011 | |||
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Abstract:Loss of Insulin-like growth factor-binding protein 7 (IGFBP7) has been found to be a critical step in the development of melanoma and colon cancer. To our knowledge, immunostaining of IGFBP7 in various dermatofibrosarcoma protuberans (DFSP) and dermatofibroma (DF) has not been studied before. To assess the immunostaining of IGFBP7 in DFSPs and DFs and to ascertain whether IGFBP7 is superior to antibodies traditionally used in differentiating DFs from DFSPs. Immunohistochemical staining was performed on 28 cases of DFSP and 30 cases of DF, using antibodies to IGFBP7, CD34, factor XIIIa, CD10 and stromelysin 3 (ST3). In 6 of 28 (21.4%) DFSP samples were positve for IGFBP7, whereas 28 of 30 (93.3%) DF samples were positve. CD34 was positive in 26 of 28 (92.9 %) cases of DFSP and 4 of 30 (13.3%) cases of DF. Factor XIIIa staining was positive in 4 of 28 (14.3 %) cases of DFSP and 28 of 30 (93.3 %) cases of DF. CD10 staining was positive in 12 of 28 (42.9 %) cases of DFSP and ST3 staining was positive in 7 of 28 (25.0 %) cases of DFSP. The preferential IGFP7 staining of DFSPs in comparison to DFs was statistically significant (P < 0.01). We confirmed that IGFBP7 is a negative immunohistochemical marker for DFSPs and the combination with CD34, factor XIIIa and ST3 immunostaining could make the distinction more reliable. | |||
TO cite this article:YU Ying,YAN Xiaofeng,LI Juan, et al. IGFBP7, a novel immunohistochemical marker in differentiating dermatofibroma from dermatofibrosarcoma protuberans[OL].[26 January 2011] http://en.paper.edu.cn/en_releasepaper/content/4409293 |
4. Correlation of CC-chemokine ligand 18 with progression of melanoma in Chinese population | |||
Xin Chong-Mei,Zeng Xue-Si,Sun Jian-Fang,Xu Xiu-Lian | |||
Clinical Medicine 19 January 2011 | |||
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Abstract:The gene of CC-chemokine ligand 18 (CCL18) was found to be significantly up-regulated in Chinese acral melanoma tissues compared with that in paracancerous tissues in our previous microarray study, indicating that CCL18 might play an important role in tumorigenesis and biological behavior of malignancies. In present study, we further investigated the expression and function of CCL18 by immunohistochemistry in 28 cases of primary skin melanoma and 39 cases of benign nevi. The results showed that CCL18 displays moderate to intense positive immunoreactivity in 19 melanoma cases (67.9%); meanwhile, all of common melanocytic nevi, Spitz nevi and dysplastic nevi are negative for CCL18. Furthermore, we found the intensity of expression of CCL18 correlates with the depth of tumor cell infiltration. These results indicate that CCL18 is expressed in melanomas of Chinese population and intensity of CCL18 expression correlates with the progression of melanoma. Thus, CCL18 may potentially be a biomarker to differentiate the benign nevi from malignant melanocytic neoplasms. | |||
TO cite this article:Xin Chong-Mei,Zeng Xue-Si,Sun Jian-Fang, et al. Correlation of CC-chemokine ligand 18 with progression of melanoma in Chinese population[OL].[19 January 2011] http://en.paper.edu.cn/en_releasepaper/content/4407752 |
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