• 已选条件：
  • × Li, Wei
  • × 期刊论文
  • × 2013
 全选  【符合条件的数据共：11条】

1 Inverse compensation for hysteresis in piezoelectric actuator using an asymmetric rate-dependent model [期刊论文]

高性能流体静压支承系统的基础研究,2013年

Li, Wei, Chen, Xuedong, Li, Zilong

LicenseType:Others | 英文

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2 Increased importin 13 activity is associated with the pathogenesis of pterygium [期刊论文]

Molecular vision,2013年

Zhou, Yueping, Li, Xuezhi, Xu, Ke, Jie, Jing, Li, Wei, Tao, Tao, Liu, Zhen, Xiao, Xinye, Lu, Xiaodong, Yang, Jie, Liu, Zuguo, He, Hui, Ma, Jian-xing, Mehmood, Muhammad Aamer

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3 Taurine attenuates oxidative stress and alleviates cardiac failure in type I diabetic rats [期刊论文]

Croatian Medical Journal,2013年

Zhao, Xue, Li, Wei, Wang, Guo-guang, Xu, Lei, Lu, Xiao-hua

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4 URBAN AND RURAL DIFFERENCES OF BLOOD PRESSURE AND HYPERTENSION CONTROL IN CHINESE COMMUNITIES: PURE CHINA STUDY [期刊论文]

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY,,61,102013年

Tang, Xinran, Yang, Jingang, Li, Wei, Rangarajan, Sumathy, Teo, Koon, Liu, Lisheng, Yusuf, Salim

LicenseType:Free |

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5 Safety and Efficacy of a Novel Abluminal Groove-Filled Biodegradable Polymer Sirolimus-Eluting Stent for the Treatment of De Novo Coronary Lesions: 12-Month Results from the Prospectively Patient-Level Pooled Analysis of the TARGET I and TARGET II Trials [期刊论文]

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY,,62,182013年

Gao, Run-Lin, Xu, Bo, Lansky, Alexandra, Yang, Yuejin, Zhang, Ruiyan, Ma Changsheng, Li, Hui, Chen, Shao Liang, Han, Yaling, Yuan, Zuyi, Huo, Yong, Li, Wei, Zhao, Yelin, Leon, Martin

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6 Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism [期刊论文]

JOURNAL OF INVESTIGATIVE DERMATOLOGY,,1332013年

Wei, Ai-Hua, Zang, Dong-Jie, Zhang, Zhe, Liu, Xuan-Zhu, He, Xin, Yang, Lin, Wang, Yi, Zhou, Zhi-Yong, Zhang, Ming-Rong, Dai, Lan-Lan, Yang, Xiu-Min, Li, Wei

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Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder with hypopigmentation in the eye, hair, and skin color. Four genes, TYR, OCA2, TYRP1, and SLC45A2, have been identified as causative genes for nonsyndromic OCA1-4, respectively. The genetic identity of OCA5 locus on 4q24 is unknown. Additional unknown OCA genes may exist as at least 5% of OCA patients have not been characterized during mutational screening in several populations. We used exome sequencing with a family-based recessive mutation model to determine that SLC24A5 is a previously unreported candidate gene for nonsyndromic OCA, which we designate as OCA6. Two deleterious mutations in this patient, c.591G>A and c.1361insT, were identified. We found apparent increase of immature melanosomes and less mature melanosomes in the patient's skin melanocytes. However, no defects in the platelet dense granules were observed, excluding typical Hermansky-Pudlak syndrome (HPS), a well-known syndromic OCA. Moreover, the SLC24A5 protein was reduced in steady-state levels in mouse HPS mutants with deficiencies in BLOC-1 and BLOC-2. Our results suggest that SLC24A5 is a previously unreported nonsyndromic OCA candidate gene and that the SLC24A5 transporter is transported into mature melanosomes by HPS protein complexes.