A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

被引:57
|
作者
van Steensel, MAM
Steijlen, PM
Bladergroen, RS
Vermeer, M
van Geel, M
机构
[1] Univ Hosp Maastricht, Dept Dermatol, NL-6202 AZ Maastricht, Netherlands
[2] Univ Med Ctr Leiden, Dept Dermatol, Leiden, Netherlands
关键词
D O I
10.1136/jmg.2004.021030
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页数:4
相关论文
共 50 条
  • [21] Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
    Ye Zhen-zhen
    Nan Xu
    Zhao Hong-shan
    Chen Xue-rong
    Song Qing-hua
    CHINESE MEDICAL JOURNAL, 2013, 126 (16) : 3103 - 3106
  • [22] Severity of Monilethrix associated with a novel promoter polymorphism and the known pathogenic mutation in the helix termination motif of the hair cortex keratin gene, hHb6, in two Indian families.
    Bairwa, NK
    Khandpur, S
    Malhotra, D
    Saha, A
    Reddy, B
    Bamezai, R
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 251 - 251
  • [23] A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients
    Korge, BP
    Healy, E
    Munro, CS
    Pünter, C
    Birch-Machin, M
    Holmes, SC
    Darlington, S
    Hamm, H
    Messenger, AG
    Rees, JL
    Traupe, H
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 111 (05) : 896 - 899
  • [24] Mutation detection of type Ⅱ hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
    YE Zhen-zhen
    NAN Xu
    ZHAO Hong-shan
    CHEN Xue-rong
    SONG Qing-hua
    中华医学杂志(英文版), 2013, (16) : 3103 - 3106
  • [25] Point mutations in the 1A domain (N114) of hair keratin hHb6 in monilethrix patients: A new hotspot for mutations?
    Korge, B
    Hamm, H
    Traupe, H
    Irvine, A
    Healy, E
    Birch-Machin, M
    Rees, J
    Messenger, A
    Holmes, S
    Jury, C
    Munro, C
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (04) : 638 - 638
  • [26] Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia: evidence for clinical overlap with monilethrix
    Zhang, M.
    Shimomura, Y.
    Wajid, M.
    Kurban, M.
    Sato, N.
    Christiano, A.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 : S88 - S88
  • [27] Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10
    Abdul-Wahab, A.
    Takeichi, T.
    Lwin, S. M.
    Liu, L.
    Stephens, C.
    Akiyama, M.
    McGrath, J. A.
    BRITISH JOURNAL OF DERMATOLOGY, 2015, 172 (05) : E35 - E36
  • [28] Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10
    Abdul-Wahab, A.
    Takeichi, T.
    Liu, L.
    Stephens, C.
    Akiyama, M.
    McGrath, J. A.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2016, 41 (03) : 290 - 293
  • [29] FGF5 missense mutation is associated with dromedary hair length variation
    Maraqa, T.
    Alhajeri, B. H.
    Alhaddad, H.
    ANIMAL GENETICS, 2021, 52 (06) : 848 - 856
  • [30] STRUCTURE AND SITE OF EXPRESSION OF A MURINE TYPE-II HAIR KERATIN
    TOBIASCH, E
    SCHWEIZER, J
    WINTER, H
    MOLECULAR BIOLOGY REPORTS, 1992, 16 (01) : 39 - 47