A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism  Aihua Wei, Yu Wang, Yan Long,

Slides:



Advertisements
Similar presentations
Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations  Liang Jin, Qiujie Jiang, Zhengsheng Wu,
Advertisements

Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum  Andrew P. South, Qiaoli Li, Jouni.
Francesca Capon  Journal of Investigative Dermatology 
Chunying Li, Ming Yin, Li-E Wang, Christopher I
Next-Generation Sequencing: Methodology and Application
Correction to: “Journal of Investigative Dermatology” advance online publication, 9 April 2015; doi: /jid   Emilie S. Chan, Leal C. Herlitz,
A New View of Vitiligo: Looking at Normal-Appearing Skin
Clinical Snippets Journal of Investigative Dermatology
Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism  Ai-Hua Wei, Dong-Jie Zang, Zhe Zhang, Xuan-Zhu Liu,
Irwin Freedberg: Physician-Scientist and Mentor
Kavitha K. Reddy  Journal of Investigative Dermatology 
Databases for Clinical Research
Hair Steroid Profiling Reveals Racial Differences in Male Pattern Baldness between Korean and Caucasian Populations  Man Ho Choi, Sun Ju Kim, Bark-Lynn.
Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients  Hongzhou Cui, Min Gao, Wenjun Wang, Ruo Xiao,
Laurent Gouya  Journal of Investigative Dermatology 
Toward Improved Understanding of a Potential Association between Isotretinoin and Inflammatory Bowel Disease  Alisa N. Femia, Ruth Ann Vleugels  Journal.
Circulating Tumor Cells and Melanoma Progression
Photosensitizing Agents and the Risk of Non-Melanoma Skin Cancer: A Population- Based Case–Control Study  Zaineb H. Makhzoumi, Sarah T. Arron  Journal.
Andrew Rowan, Ian Tomlinson  Journal of Investigative Dermatology 
Irwin Freedberg, Odysseus for Our Generation
Meeting Report from Frontiers in Ichthyosis Research
Post-IID 2008 International Meeting on Autoimmune Bullous Diseases
Tasleem Kausar, Thomas J
Jean Cadet, Thierry Douki  Journal of Investigative Dermatology 
The Thinning Top: Why Old People Have Less Hair
September 2015 Snapshot Dx Quiz: Linking Science to Patient Care
Clinical Snippets Journal of Investigative Dermatology
Minutes of the Board of Directors Meeting
Mizuho Fukunaga-Kalabis, Meenhard Herlyn 
Star Trek Publishing Journal of Investigative Dermatology
JID VisualDx Quiz: May 2014 Journal of Investigative Dermatology
KIT in Melanoma: Many Shades of Gray
Clinical Snippets Journal of Investigative Dermatology
Lopa M. Das, Kurt Q. Lu  Journal of Investigative Dermatology 
Journal of Investigative Dermatology
High-Density Lipoprotein Cholesterol Function Improves after Successful Treatment of Psoriasis: A Step Forward in the Right Direction  Nehal N. Mehta,
Journal of Investigative Dermatology
Journal of Investigative Dermatology 
A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia  Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,
The Adverse Effect of IFN Gamma on Stratum Corneum Structure and Function in Psoriasis and Atopic Dermatitis  Kenneth R. Feingold  Journal of Investigative.
CXCR4 in Epidermal Keratinocytes: Crosstalk within the Skin
Jonathan I. Silverberg, Nanette B. Silverberg 
Society for Investigative Dermatology 2010 Meeting Minutes
Journal of Investigative Dermatology
Democratizing the Clinical Trials Agenda in Dermatology
Maria T. García-Romero, Roberto Arenas 
BJD Editor's Choice Journal of Investigative Dermatology
Cells of Origin in Skin Cancer
Research Snippets Journal of Investigative Dermatology
Clinical Snippets Journal of Investigative Dermatology
Journal of Investigative Dermatology
How Much Sun Protection Is Needed
Genetic Influences on Human Body Odor: From Genes to the Axillae
Interpretation of Skindex-29 Scores
Metabolic Vulnerability in Melanoma: A ME2 (Me Too) Story
Research Snippets from the British Journal of Dermatology
Melanocyte Regeneration in Vitiligo Requires WNT beneath their Wings
25 Years of Epidermal Stem Cell Research
Journal of Investigative Dermatology
Geographical and Temporal Correlations in the Incidence of Lyme Disease, RMSF, Ehrlichiosis, and Coccidioidomycosis with Search Data  Vladimir Ratushny,
Research Snippets Journal of Investigative Dermatology
Journal of Investigative Dermatology
Conceptual Issues in Measuring the Burden of Skin Diseases
Consequences of Psychological Distress in Adolescents with Acne
Journal of Investigative Dermatology
Journal of Investigative Dermatology
Insights in Behçet’s Disease: Has a Target Antigen Been Identified?
Journal of Investigative Dermatology
A Population-Based Study of Acquired Bilateral Nevus-of-Ota-Like Macules in Shanghai, China  Bei-Qing Wang, Zheng-Yu Shen, Ye Fei, Hong Li, Jian-Hang.
Innate Immunity Stimulates Permeability Barrier Homeostasis
Presentation transcript:

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism  Aihua Wei, Yu Wang, Yan Long, Yi Wang, Xiaoli Guo, Zhiyong Zhou, Wei Zhu, Juntao Liu, Xuming Bian, Shi Lian, Wei Li  Journal of Investigative Dermatology  Volume 130, Issue 3, Pages 716-724 (March 2010) DOI: 10.1038/jid.2009.339 Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Distribution of mutational alleles of the TYR gene in the Chinese Han population. Boxes represent five different exons as indicated, and solid lines connecting these boxes represent the introns of the TYR gene. The numbers above the boxes indicate the positions of the TYR complementary DNA at the start–stop sites and exon–intron boundaries. Vertical lines represent the locations of the mutational alleles of missense (above the boxes) or nonsense/frameshift/splicing (below the boxes) mutations. The numbers under the brackets denote the total allelic frequencies of the alleles included. Journal of Investigative Dermatology 2010 130, 716-724DOI: (10.1038/jid.2009.339) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions