Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families

被引：15
作者：
Ali, R. H. [1 ]
Habib, R. [1 ]
Ud-Din, N. [2 ]
Khan, M. N. [2 ]
Ansar, M. [1 ]
Ahmad, W. [1 ]
机构：
[1] Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan
[2] Univ Azad Jammu & Kashmir, Dept Zool, Muzafarabad, Pakistan
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2013年 / 169卷 / 02期
关键词：
D O I：
10.1111/bjd.12302
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：478 / 480
页数：3
相关论文
共 10 条
  • [1] Barbareschi M, 1997, AM J MED GENET, V72, P91, DOI 10.1002/(SICI)1096-8628(19971003)72:1<91::AID-AJMG19>3.0.CO
  • [2] 2-P
  • [3] PILI TORTI AND ONYCHODYSPLASIA - REPORT OF A PREVIOUSLY UNDESCRIBED HYDROTIC ECTODERMAL DYSPLASIA
    CALZAVARAPINTON, P
    CARLINO, A
    BENETTI, A
    DEPANFILIS, G
    [J]. DERMATOLOGICA, 1991, 182 (03): : 184 - 187
  • [4] A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
    Farooq, Muhammad
    Kurban, Mazen
    Fujimoto, Atsushi
    Fujikawa, Hiroki
    Abbas, Ossama
    Nemer, Georges
    Saliba, Jessica
    Sleiman, Rima
    Tofaili, Mona
    Kibbi, Abdul-Ghani
    Ito, Masaaki
    Shimomura, Yutaka
    [J]. HUMAN MUTATION, 2013, 34 (04) : 578 - 581
  • [5] Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
    Lin, Zhimiao
    Chen, Quan
    Shi, Lei
    Lee, Mingyang
    Giehl, Kathrin A.
    Tang, Zhanli
    Wang, Huijun
    Zhang, Jie
    Yin, Jinghua
    Wu, Lingshen
    Xiao, Ruo
    Liu, Xuanzhu
    Dai, Lanlan
    Zhu, Xuejun
    Li, Ruoyu
    Betz, Regina C.
    Zhang, Xue
    Yang, Yong
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (05) : 906 - 911
  • [6] A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
    Naeem, M
    Wajid, M
    Lee, K
    Leal, SM
    Ahmad, W
    [J]. JOURNAL OF MEDICAL GENETICS, 2006, 43 (03) : 274 - 279
  • [7] Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2
    Naeem, M.
    Jelani, M.
    Lee, K.
    Ali, G.
    Chishti, M. S.
    Wali, A.
    Gul, A.
    John, P.
    Hassan, M. J.
    Leal, S. M.
    Ahmad, W.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (06) : 1184 - 1190
  • [8] Hox gene evolution: multiple mechanisms contributing to evolutionary novelties
    Pick, Leslie
    Heffer, Alison
    [J]. YEAR IN EVOLUTIONARY BIOLOGY, 2012, 1256 : 15 - 32
  • [9] The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target during Hair Follicle and Nail Differentiation
    Potter, Christopher S.
    Pruett, Nathanael D.
    Kern, Michael J.
    Baybo, Mary Ann
    Godwin, Alan R.
    Potter, Kathleen A.
    Peterson, Ron L.
    Sundberg, John P.
    Awgulewitsch, Alexander
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 (04) : 828 - 837
  • [10] Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
    Shimomura, Yutaka
    Wajid, Muhammad
    Kurban, Mazen
    Sato, Nobuyuki
    Christiano, Angela M.
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (03) : 892 - 895
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