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Akademický článek

CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse

Autor: Xiao-Rui Luan, Xiao-Ling Chen, Yue-Xiao Tang, Jin-Yan Zhang, Xiang Gao, Hai-Ping Ke, Zhao-Yu Lin, Xian-Ning Zhang

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 220-228 (2018)

CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly specific genome-editing tool that has been used to treat monogenetic disorders. Epidermolytic palmoplantar keratoderma (EPPK) is a common autosomal dominant keratin

Externí odkaz: https://doaj.org/article/10f8716e5c74405a9a3b5e87449c393f

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Akademický článek

A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy

Autor: Ya-Su Lyu, Pei-liang Shi, Xiao-Ling Chen, Yue-Xiao Tang, Yan-Fang Wang, Rong-Rong Liu, Xiao-Rui Luan, Yu Fang, Ru-Huan Mei, Zhen-Fang Du, Hai-Ping Ke, Erik Matro, Ling-En Li, Zhao-Yu Lin, Jing Zhao, Xiang Gao, Xian-Ning Zhang

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

Epidermolytic palmoplantar keratoderma (EPPK) is a relatively common autosomal-dominant skin disorder caused by mutations in the keratin 9 gene (KRT9), with few therapeutic options for the affected so far. Here, we report a knock-in transgenic mouse

Externí odkaz: https://doaj.org/article/5a49c006b3a94c158ca820709f84e855

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Knockdown of eukaryotic translation initiation factor 5A2 enhances the therapeutic efficiency of doxorubicin in hepatocellular carcinoma cells by triggering lethal autophagy

Autor: Shangzhi Xie, Xiao-Rui Luan, J. Zhang, Xiaoxiao Zheng, Hai-Ping Ke, Ke Chen, Rong-Rong Liu, Wei Chen, Xian-Ning Zhang, Yuexiao Tang

Publikováno v: International Journal of Oncology

Hepatocellular carcinoma (HCC) is an invasive malignant neoplasm with a poor prognosis. The development of chemoresistance severely obstructs the chemotherapeutic efficiency of HCC treatment. Therefore, understanding the mechanisms of chemoresistance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08a23d780ea3308635e1e0178aeaebe4
http://europepmc.org/articles/PMC7646588

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CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse

Autor: Xiang Gao, Hai-Ping Ke, Xiao-Rui Luan, Zhaoyu Lin, Yuexiao Tang, Xiao-Ling Chen, J. Zhang, Xian-Ning Zhang

Publikováno v: Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 12, Iss, Pp 220-228 (2018)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d04ecfbbb3b032291e4ac811c3ced20
http://europepmc.org/articles/PMC6023945

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KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma

Autor: Qi-Hui Fan, Hu-Ling Jiang, Xian-Ning Zhang, Chen-Ming Xu, Rong-Rong Liu, Zhenfang Du, Ya-Su Lv, Yu-Qin Luo, Xiao-Ling Chen, Hai-Ping Ke, Yi-Zhou Huang

Publikováno v: Gene. 546:124-128

Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with ery

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489680f4a62d72e1bb3e258b52d4c161
https://doi.org/10.1016/j.gene.2014.05.048

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A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy

Autor: Yuexiao Tang, Jing Zhao, Zhenfang Du, Yan-Fang Wang, Hai-Ping Ke, Peiliang Shi, Erik Matro, Xiao-Rui Luan, Ya-Su Lyu, Zhaoyu Lin, Xian-Ning Zhang, Xiao-Ling Chen, Ling-En Li, Rong-Rong Liu, Ru-Huan Mei, Yu Fang, Xiang Gao

Publikováno v: Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c1cd3625402bef030a94c475d7dd98d

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Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations

Publikováno v: Gene. 516(1)

Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, and duplication sequences of PKD1. Recently, targeted resequencing by pooling lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3899810da7cc52c69928196dc2bb5a
https://pubmed.ncbi.nlm.nih.gov/23266634

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Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma

Autor: Hai-Ping Ke, Yan Zhao, Xian-Ning Zhang, Chun-Yue Chen, Chen-Ming Xu, Hong Fang, Wen-Ting Liu, Zhenfang Du, Xiao-Ling Chen

Publikováno v: European journal of dermatology : EJD. 22(4)

Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK). A new classification system of PC has been adopted based on the mutated gene. PC rarely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87125a182d580c4a97fb44aa5800ad0d
https://pubmed.ncbi.nlm.nih.gov/22668561

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Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease

Autor: Yan Zhao, Xiao-Ling Chen, Xian-Ning Zhang, Wen-Ting Liu, Hai-Ping Ke, Zhenfang Du

Publikováno v: Gene. 507(2)

Danon disease is a rare X-linked lysosomal storage disease characterized by hypertrophic cardiomyopathy, myopathy and mental retardation, and is due to a primary defect in lysosome-associated membrane protein-2 (LAMP 2). More than 26 mutations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6bdce9d7c56b64f83fc2768a089bc06
https://pubmed.ncbi.nlm.nih.gov/22750798

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[Effect of alpha-difluoromethylornithine on growth characteristics and expression of ALT-04ag gene of human lung carcinoma cells]

Autor: Zhi-hua, Chen, Hai-ping, Ke, Hong-yan, Li, Qing, Fang, Shu-lan, Cao, Mu-zhen, Fan

Publikováno v: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae. 24(4)

To study the effect of polyamine biosynthesis inhibition on growth characteristics of human lung carcinoma cells and its correlation with the expression of human lung carcinoma associated antigen ALT-04ag gene.The gene expression was detected by RT-P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::23a63d30f27492fe8db267f176eaf45c
https://pubmed.ncbi.nlm.nih.gov/12905657

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