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A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
  • Aihua Wei, Y. Wang, +8 authors Wei Li
  • Medicine
  • The Journal of investigative dermatology
  • 1 March 2010
Oculocutaneous albinism (OCA) is a heterogeneous recessive disorder with hypopigmentation in the skin, hair, and eyes. At least 16 genes have been identified as causative genes for human OCA. NoExpand
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Four novel mutations of TYR gene in Chinese OCA1 patients.
Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder with a reduction or complete absence of melanin in the skin, hair, and eyes. It is often accompanied with common eyeExpand
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The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
[1] Caterina MJ, Julius D. The vanilloid receptor: a molecular gateway to the pain pathway. Annu Rev Neurosci 2001;24:487–517. [2] Huang SM, Bisogno T, Trevisani M, Al-Hayani A, De Petrocellis L,Expand
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Mucocutaneous manifestations of HIV‐infected patients in the era of HAART in Guangxi Zhuang Autonomous Region, China
  • J. Han, W. Lun, +4 authors S. Lian
  • Medicine
  • Journal of the European Academy of Dermatology…
  • 1 March 2013
Background  Human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS) are frequently associated with diverse mucocutaneous manifestations. However, few studies ofExpand
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MiR-203 inhibits melanoma invasive and proliferative abilities by targeting the polycomb group gene BMI1.
Metastasis is the major problem in malignant melanoma, posing a therapeutic challenge to clinicians. The investigation of the underlying mechanism driving this progress remains a large unmet need. InExpand
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miR-137 suppresses tumor growth of malignant melanoma by targeting aurora kinase A.
As an oncogene, aurora kinase A (AURKA) is overexpressed in various types of human cancers. However, the expression and roles of AURKA in malignant melanoma are largely unknown. In this study, aExpand
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Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
BACKGROUND Oculocutaneous albinism (OCA) is a relatively common inherited disorder in all populations worldwide. The mutational spectra of OCA are population-specific. OBJECTIVE Based on ourExpand
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Oligomeric proanthocyanidins from grape seeds effectively inhibit ultraviolet-induced melanogenesis of human melanocytes in vitro.
The oligomeric proanthocyanidins (OPCs) from grape seeds are expected to be novel and potent anti-oxidants that more effectively protect skin cells against oxidative stress. UV-induced oxidativeExpand
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Ultraviolet B light-induced apoptosis in human keratinocytes enriched with epidermal stem cells and normal keratinocytes.
  • X. Mei, S. Lian
  • Biology, Medicine
  • Chinese medical journal
  • 4 July 2011
BACKGROUND The stem-cell compartment is the primary target for the accumulation of oncogenic mutations. Overexposure to solar ultraviolet radiation is responsible for the development and progressionExpand
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A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene
BackgroundOculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production. OCA type 1 (OCA1) is the most serious and common type of OCA. This studyExpand
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