PMC Articles for MedGen (Select 815724) - PMC

Select item 104029631.

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report

Yue Yang, Nan Jiang, Jing Qun Mai, Shuo Yang, Yuanyuan Xiao, Shanling Liu

Medicine (Baltimore) 2023 Aug 4; 102(31): e34448. Published online 2023 Aug 4. doi: 10.1097/MD.0000000000034448

PMCID:: PMC10402963

Abstract Article PDF–862K

Select item 73870862.

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock-in mouse model

Zexi Xu, Yadong Li, Dahong Wang, Daoqiu Wu, Jinyun Wang, Lian Chen, Yinqian Deng, Jing Zhang, Zhixiong Wu, Xin Wan, Qianfan Liu, Hai Huang, Pingsheng Hu, Jiawei Zeng, Ding'an Zhou

Int J Mol Med. 2020 Sep; 46(3): 1118–1134. Published online 2020 Jun 19. doi: 10.3892/ijmm.2020.4652

PMCID:: PMC7387086

Abstract Article PDF–3.9M

Select item 47975403.

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

Jia-Wei Liu, Asan, Jun Sun, Sergio Vano-Galvan, Feng-Xia Liu, Xiu-Xiu Wei, Dong-Lai Ma

Chin Med J (Engl) 2016 Jan 5; 129(1): 33–38. doi: 10.4103/0366-6999.172564

PMCID:: PMC4797540

Abstract Article PDF–975K

Select item 39119244.

Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

Hong Liu, Yi Li, Ken Kwok Hon Hung, Na Wang, Chuan Wang, Xuechao Chen, Donglai Sheng, Xi’an Fu, Kelvin See, Jia Nee Foo, Huiqi Low, Herty Liany, Ishak Darryl Irwan, Jian Liu, Baoqi Yang, Mingfei Chen, Yongxiang Yu, Gongqi Yu, Guiye Niu, Jiabao You, Yan Zhou, Shanshan Ma, Ting Wang, Xiaoxiao Yan, Boon Kee Goh, John E. A. Common, Birgitte E. Lane, Yonghu Sun, Guizhi Zhou, Xianmei Lu, Zhenhua Wang, Hongqing Tian, Yuanhua Cao, Shumin Chen, Qiji Liu, Jianjun Liu, Furen Zhang

PLoS One. 2014; 9(2): e87250. Published online 2014 Feb 3. doi: 10.1371/journal.pone.0087250

PMCID:: PMC3911924

Abstract Article PDF–4.2M

Select item 38182195.

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

Ying-Xia Cui, Xin-Yi Xia, Yang Zhou, Lin Gao, Xue-Jun Shang, Tong Ni, Wei-Ping Wang, Xiao-Buo Fan, Hong-Lin Yin, Shao-Jun Jiang, Bing Yao, Yu-An Hu, Gang Wang, Xiao-Jun Li

PLoS One. 2013; 8(11): e79808. Published online 2013 Nov 5. doi: 10.1371/journal.pone.0079808

PMCID:: PMC3818219

Abstract Article PDF–1.8M

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