The Experts below are selected from a list of 246 Experts worldwide ranked by ideXlab platform
Xiaoping Wang - One of the best experts on this subject based on the ideXlab platform.
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erratum to expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Wenping Cai, Beizhan Jiang and Tienan Feng contributed equally to this work. The online version of the original article can be found under doi:10.1186/s13023-015-0285-y.
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expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Background White Sponge Nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.
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current approaches to the diagnosis and treatment of White Sponge Nevus
Expert Reviews in Molecular Medicine, 2015Co-Authors: Beizhan Jiang, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Fang Yu, Xiaoping WangAbstract:White Sponge Nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is White or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 ( KRT 4) and keratin 13 ( KRT 13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.
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keratin 13 mutations associated with oral White Sponge Nevus in two chinese families
Meta Gene, 2014Co-Authors: Zhenghu Chen, Beizhan Jiang, Jianhua Yang, Fang Yu, Ping Xu, Mu Wang, Xiaoping WangAbstract:White Sponge Nevus (WSN) is an autosomal dominant hereditary disease. Keratin 4 (KRT4) and Keratin 13 (KRT13) gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. The multiple alignments of KRT13 from 23 diverse species homology analyses were performed by the ClustalW program. The KRT13 expression was measured by Real-Time RT-PCR and Western blot analysis. Sequencing analysis revealed two mutations of KRT13 gene: one mutation was 332T>C and amino acid change was Leu111Pro. Another mutation was 340C>T and amino acid change was Arg114Cys. The sequence of KRT13 was highly conserved. Real-Time RT-PCR and Western blot analysis results show that KRT13 expression level is lower in patient but keep almost no change in mRNA level. When cells were treated with MG132, KRT13 protein level was increased and kept almost the same in normal and patient cells. We identified two heritable mutations in the KRT13 gene, which were associated with the development of WSN. The abnormal degradation of KRT13 protein of WSN may probably associate with the abnormal ubiquitination process.
Beizhan Jiang - One of the best experts on this subject based on the ideXlab platform.
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erratum to expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Wenping Cai, Beizhan Jiang and Tienan Feng contributed equally to this work. The online version of the original article can be found under doi:10.1186/s13023-015-0285-y.
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expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Background White Sponge Nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.
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current approaches to the diagnosis and treatment of White Sponge Nevus
Expert Reviews in Molecular Medicine, 2015Co-Authors: Beizhan Jiang, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Fang Yu, Xiaoping WangAbstract:White Sponge Nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is White or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 ( KRT 4) and keratin 13 ( KRT 13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.
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keratin 13 mutations associated with oral White Sponge Nevus in two chinese families
Meta Gene, 2014Co-Authors: Zhenghu Chen, Beizhan Jiang, Jianhua Yang, Fang Yu, Ping Xu, Mu Wang, Xiaoping WangAbstract:White Sponge Nevus (WSN) is an autosomal dominant hereditary disease. Keratin 4 (KRT4) and Keratin 13 (KRT13) gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. The multiple alignments of KRT13 from 23 diverse species homology analyses were performed by the ClustalW program. The KRT13 expression was measured by Real-Time RT-PCR and Western blot analysis. Sequencing analysis revealed two mutations of KRT13 gene: one mutation was 332T>C and amino acid change was Leu111Pro. Another mutation was 340C>T and amino acid change was Arg114Cys. The sequence of KRT13 was highly conserved. Real-Time RT-PCR and Western blot analysis results show that KRT13 expression level is lower in patient but keep almost no change in mRNA level. When cells were treated with MG132, KRT13 protein level was increased and kept almost the same in normal and patient cells. We identified two heritable mutations in the KRT13 gene, which were associated with the development of WSN. The abnormal degradation of KRT13 protein of WSN may probably associate with the abnormal ubiquitination process.
Zhenghu Chen - One of the best experts on this subject based on the ideXlab platform.
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erratum to expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Wenping Cai, Beizhan Jiang and Tienan Feng contributed equally to this work. The online version of the original article can be found under doi:10.1186/s13023-015-0285-y.
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expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Background White Sponge Nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.
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current approaches to the diagnosis and treatment of White Sponge Nevus
Expert Reviews in Molecular Medicine, 2015Co-Authors: Beizhan Jiang, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Fang Yu, Xiaoping WangAbstract:White Sponge Nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is White or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 ( KRT 4) and keratin 13 ( KRT 13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.
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keratin 13 mutations associated with oral White Sponge Nevus in two chinese families
Meta Gene, 2014Co-Authors: Zhenghu Chen, Beizhan Jiang, Jianhua Yang, Fang Yu, Ping Xu, Mu Wang, Xiaoping WangAbstract:White Sponge Nevus (WSN) is an autosomal dominant hereditary disease. Keratin 4 (KRT4) and Keratin 13 (KRT13) gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. The multiple alignments of KRT13 from 23 diverse species homology analyses were performed by the ClustalW program. The KRT13 expression was measured by Real-Time RT-PCR and Western blot analysis. Sequencing analysis revealed two mutations of KRT13 gene: one mutation was 332T>C and amino acid change was Leu111Pro. Another mutation was 340C>T and amino acid change was Arg114Cys. The sequence of KRT13 was highly conserved. Real-Time RT-PCR and Western blot analysis results show that KRT13 expression level is lower in patient but keep almost no change in mRNA level. When cells were treated with MG132, KRT13 protein level was increased and kept almost the same in normal and patient cells. We identified two heritable mutations in the KRT13 gene, which were associated with the development of WSN. The abnormal degradation of KRT13 protein of WSN may probably associate with the abnormal ubiquitination process.
Jianhua Yang - One of the best experts on this subject based on the ideXlab platform.
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erratum to expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Wenping Cai, Beizhan Jiang and Tienan Feng contributed equally to this work. The online version of the original article can be found under doi:10.1186/s13023-015-0285-y.
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expression profiling of White Sponge Nevus by rna sequencing revealed pathological pathways
Orphanet Journal of Rare Diseases, 2015Co-Authors: Beizhan Jiang, Tienan Feng, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Xiaoping WangAbstract:Background White Sponge Nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.
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current approaches to the diagnosis and treatment of White Sponge Nevus
Expert Reviews in Molecular Medicine, 2015Co-Authors: Beizhan Jiang, Jianhua Yang, Zhenghu Chen, Shouliang Zhao, Fang Yu, Xiaoping WangAbstract:White Sponge Nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is White or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 ( KRT 4) and keratin 13 ( KRT 13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.
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keratin 13 mutations associated with oral White Sponge Nevus in two chinese families
Meta Gene, 2014Co-Authors: Zhenghu Chen, Beizhan Jiang, Jianhua Yang, Fang Yu, Ping Xu, Mu Wang, Xiaoping WangAbstract:White Sponge Nevus (WSN) is an autosomal dominant hereditary disease. Keratin 4 (KRT4) and Keratin 13 (KRT13) gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. The multiple alignments of KRT13 from 23 diverse species homology analyses were performed by the ClustalW program. The KRT13 expression was measured by Real-Time RT-PCR and Western blot analysis. Sequencing analysis revealed two mutations of KRT13 gene: one mutation was 332T>C and amino acid change was Leu111Pro. Another mutation was 340C>T and amino acid change was Arg114Cys. The sequence of KRT13 was highly conserved. Real-Time RT-PCR and Western blot analysis results show that KRT13 expression level is lower in patient but keep almost no change in mRNA level. When cells were treated with MG132, KRT13 protein level was increased and kept almost the same in normal and patient cells. We identified two heritable mutations in the KRT13 gene, which were associated with the development of WSN. The abnormal degradation of KRT13 protein of WSN may probably associate with the abnormal ubiquitination process.
E B Lane - One of the best experts on this subject based on the ideXlab platform.
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a novel mutation in the keratin 13 gene causing oral White Sponge Nevus
Journal of Dental Research, 2001Co-Authors: Alessandro Terrinoni, G Melino, E L Rugg, E B Lane, D H Felix, Colin S Munro, W H I McleanAbstract:White Sponge Nevus (WSN) is an autosomaldominantly inherited form of mucosal leukokeratosis. Defects in keratins, proteins that form the stress-bearing cytoskeleton in epithelia, have been shown to cause several epithelial fragility disorders. Recently, mutations in the genes encoding mucosal-specific keratins K4 and K13 were shown to be the underlying cause of WSN. We have studied a large Scottish family with 19 persons affected by WSN in four generations. The K4 locus was excluded by genetic linkage analysis; however, genetic linkage consistent with a K13 defect was obtained. Subsequently, a heterozygous missense mutation 335A>G was detected in exon 1 of the KRT13 gene, predicting the amino acid change N112S in the 1A domain of the K13 polypeptide. The mutation was confirmed in affected family members and was excluded from 50 unaffected people by restriction enzyme analysis. These results confirm that mucosal keratin defects are the cause of WSN.
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A mutation in the mucosal keratin K4 is associated with oral White Sponge Nevus
Nature Genetics, 1995Co-Authors: E L Rugg, E B Lane, D H Felix, W H I Mclean, W.e. Allison, D.p. Lunny, R.i. Macleod, Colin S MunroAbstract:White Sponge Nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as White ‘spongy’ plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa^2. Histologically, the plaques show evidence of hyperproliferation, acanthosis and tonofilament aggregation^3–5. These types of pathogenic changes are characteristic of many of the epidermal keratin disorders^6. Keratins are expressed in pairs by epithelial cells in a tissue and cell specific manner. The major differentiation specific keratins of the buccal mucosa, nasal, esophageal and anogenital epithelia are K4 and K13 (ref. 7). The tissue distribution and nature of the lesions in patients affected by WSN suggested that mutations in K4 and/or K13 might be responsible for this disorder. We have now confirmed this hypothesis and report here a three base-pair (bp) deletion in the helix initiation peptide of K4 in affected members from two families with this condition.
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expression of keratin 14 and 19 mrna and protein in normal oral epithelia hairy leukoplakia tongue biting and White Sponge Nevus
Journal of Oral Pathology & Medicine, 1993Co-Authors: Lan Su, Peter Morgan, J A Thomas, E B LaneAbstract:: This study was undertaken to analyze keratin gene expression at both the mRNA and protein level in oral hairy leukoplakia (OHL). Comparisons were made with normal lingual epithelium from a similar site, tongue biting, normal buccal mucosa and another condition which disturbs oral epithelial differentiation, White Sponge Nevus. Combined immunocytochemical and in situ hybridization studies for keratins 14 and 19 were carried out on 2 specimens of OHL from HIV-positive males and one sample each of the other cases. Keratin 14 protein expression was uniform throughout all the epithelia. In normal epithelia and in lesions other than OHL, keratin 14 mRNA was most strongly expressed in basal cells with weaker but still significant amounts in the spinous cell layer. In both cases of OHL there was weaker basal cell expression of keratin 14 mRNA and frequent absence in koilocytoid cells. Keratin 19 protein expression was heterogeneous in the basal layer of all specimens with suprabasal staining of occasional groups of cells. Its mRNA was uniformly distributed in all cases. The findings indicate the keratin mRNA expression does not always parallel that of protein and that, in the case of keratin 14, expression may be influenced by the presence of EBV.
