Literature DB >> 21430701

Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).

Yuan Liu, Min Gao, Yong-mei Lv, Xu Yang, Yun-qing Ren, Tao Jiang, Xin Zhang, Bi-rong Guo, Min Li, Qing Zhang, Peng Zhang, Fu-sheng Zhou, Gang Chen, Xian-yong Yin, Xian-bo Zuo, Liang-dan Sun, Xiao-dong Zheng, Shu-mei Zhang, Jian-jun Liu, Youwen Zhou, Ying-rui Li, Jun Wang, Jian Wang, Huan-ming Yang, Sen Yang, Rui-qiang Li, Xue-jun Zhang.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21430701     DOI： 10.1038/jid.2011.62

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


× No keyword cloud information.
  18 in total

Review 1.  Rare diseases research in China: Opportunities, challenges, and solutions.

Authors:  Jinxiang Han; Yazhou Cui; Xiaoyan Zhou
Journal:  Intractable Rare Dis Res       Date:  2012-02

2.  A novel NCSTN gene mutation in a Chinese family with acne inversa.

Authors:  Chao Wu; Jun Yang; Shiyu Zhang; Jun Li; Hongzhong Jin; Xue Zhang
Journal:  Mol Genet Genomics       Date:  2018-07-20       Impact factor: 3.291

Review 3.  Exome sequencing as a tool for Mendelian disease gene discovery.

Authors:  Michael J Bamshad; Sarah B Ng; Abigail W Bigham; Holly K Tabor; Mary J Emond; Deborah A Nickerson; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-09-27       Impact factor: 53.242

4.  Aerobic and Anaerobic Bacteriology of Hidradenitis Suppurativa: A Study of 22 Cases.

Authors:  Alexandros C Katoulis; Dimitra Koumaki; Aikaterini I Liakou; Georgia Vrioni; Vasiliki Koumaki; Dimitra Kontogiorgi; Korina Tzima; Athanasios Tsakris; Dimitris Rigopoulos
Journal:  Skin Appendage Disord       Date:  2015-05-28

Review 5.  Human genome sequencing in health and disease.

Authors:  Claudia Gonzaga-Jauregui; James R Lupski; Richard A Gibbs
Journal:  Annu Rev Med       Date:  2012       Impact factor: 13.739

Review 6.  Exome sequencing greatly expedites the progressive research of Mendelian diseases.

Authors:  Xuejun Zhang
Journal:  Front Med       Date:  2014-01-03       Impact factor: 4.592

7.  Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.

Authors:  Airong Li; Yang Peng; Lauren M Taiclet; Rudolph E Tanzi
Journal:  Hum Mol Genet       Date:  2019-04-01       Impact factor: 6.150

8.  γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.

Authors:  Zhongshuai Wang; Yan Yan; Baoxi Wang
Journal:  Dermatology       Date:  2020-12-17       Impact factor: 5.366

9.  Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.

Authors:  Guangqian Xing; Jun Yao; Bin Wu; Tingting Liu; Qinjun Wei; Cheng Liu; Yajie Lu; Zhibin Chen; Heng Zheng; Xiaonan Yang; Xin Cao
Journal:  Genet Med       Date:  2014-07-31       Impact factor: 8.822

10.  Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.

Authors:  Xin Zhang; Bi-Rong Guo; Li-Qiong Cai; Tao Jiang; Liang-Dan Sun; Yong Cui; Jing-Chu Hu; Jun Zhu; Gang Chen; Xian-Fa Tang; Guang-Qing Sun; Hua-Yang Tang; Yuan Liu; Min Li; Qi-Bin Li; Hui Cheng; Min Gao; Ping Li; Xu Yang; Xian-Bo Zuo; Xiao-Dong Zheng; Pei-Guang Wang; Jian Wang; Jun Wang; Jian-Jun Liu; Sen Yang; Ying-Rui Li; Xue-Jun Zhang
Journal:  J Med Genet       Date:  2012-10-25       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.