Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.-论文-万方医学网

第一作者： Hong,Liu

第一单位： Shandong Provincial Institute of Dermatology and Venereology, Provincial Academy of Medical Science, Jinan, Shandong, China ; Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China ; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China ; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.

作者： Hong,Liu ^[1] ; Yi,Li ^[2] ; Ken Kwok Hon,Hung ^[2] ; Na,Wang ^[3] ; Chuan,Wang ^[3] ; Xuechao,Chen ^[3] ; Donglai,Sheng ^[2] ; Xi'an,Fu ^[3] ; Kelvin,See ^[2] ; Jia Nee,Foo ^[2] ; Huiqi,Low ^[2] ; Herty,Liany ^[2] ; Ishak Darryl,Irwan ^[2] ; Jian,Liu ^[3] ; Baoqi,Yang ^[4] ; Mingfei,Chen ^[3] ; Yongxiang,Yu ^[3] ; Gongqi,Yu ^[3] ; Guiye,Niu ^[3] ; Jiabao,You ^[3] ; Yan,Zhou ^[3] ; Shanshan,Ma ^[3] ; Ting,Wang ^[5] ; Xiaoxiao,Yan ^[4] ; Boon Kee,Goh ^[6] ; John E A,Common ^[7] ; Birgitte E,Lane ^[7] ; Yonghu,Sun ^[3] ; Guizhi,Zhou ^[3] ; Xianmei,Lu ^[3] ; Zhenhua,Wang ^[8] ; Hongqing,Tian ^[4] ; Yuanhua,Cao ^[9] ; Shumin,Chen ^[3] ; Qiji,Liu ^[10] ; Jianjun,Liu ^[11] ; Furen,Zhang ^[12]

作者单位： Shandong Provincial Institute of Dermatology and Venereology, Provincial Academy of Medical Science, Jinan, Shandong, China ; Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China ; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China ; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China. ^[1] Human Genetics, Genome Institute of Singapore, ASTAR, Singapore, Singapore. ^[2] Shandong Provincial Institute of Dermatology and Venereology, Provincial Academy of Medical Science, Jinan, Shandong, China ; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China. ^[3] Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China ; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China. ^[4] Shandong provincial Eye Hospital, Jinan, Shandong, China. ^[5] National Skin Centre, Singapore, Singapore. ^[6] Institute of Medical Biology, ASTAR, Singapore, Singapore. ^[7] Weifang People's Hospital, Weifang, Shandong, China. ^[8] Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College Nanjing, Jiangsu, China. ^[9] Shandong University, Jinan, Shandong, China. ^[10] Human Genetics, Genome Institute of Singapore, ASTAR, Singapore, Singapore ; School of Life Sciences, Anhui Medical University, Hefei, Anhui, China. ^[11] Shandong Provincial Institute of Dermatology and Venereology, Provincial Academy of Medical Science, Jinan, Shandong, China ; Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China ; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China ; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China ; Shandong Clinical College, Anhui Medical University, Jinan, Shandong, China. ^[12]

主题词 ATP结合匣式转运子(ATP-Binding Cassette Transporters);氨基酸序列(Amino Acid Sequence);动物(Animals);碱基序列(Base Sequence);染色体图(Chromosome Mapping);DNA突变分析(DNA Mutational Analysis);家庭卫生(Family Health);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);全基因组关联研究(Genome-Wide Association Study);人类(Humans);免疫组织化学(Immunohistochemistry);优势对数记分法(Lod Score);男(雄)性(Male);黑素细胞(Melanocytes);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);系谱(Pedigree);色素沉着异常(Pigmentation Disorders);逆转录聚合酶链反应(Reverse Transcriptase Polymerase Chain Reaction);序列同源性, 氨基酸(Sequence Homology, Amino Acid);序列同源性, 核酸(Sequence Homology, Nucleic Acid);皮肤(Skin);皮肤疾病, 遗传性(Skin Diseases, Genetic);斑马鱼(Zebrafish)

DOI 10.1371/journal.pone.0087250

PMID 24498303

发布时间 2021-10-21

检索历史清除

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

PloS one

相似文献

PloS one

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

PloS one

相似文献

PloS one

相关期刊

检索历史清除