A novel connexin26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome

被引：0
|
作者：
Van Steensel, MAM [1 ]
Van Geel, M [1 ]
Nahuys, M [1 ]
Smitt, JHS [1 ]
Steijlen, PM [1 ]
机构：
[1] Univ Nijmegen, Med Ctr, Nijmegen, Netherlands
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2002年 / 119卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
223
引用
收藏
页码：750 / 750
页数：1
相关论文
共 50 条
  • [1] A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
    van Steensel, MAM
    van Geel, M
    Nahuys, M
    Smitt, JHS
    Steijlen, PM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 118 (04) : 724 - 727
  • [2] A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome
    Neoh, Ching Yin
    Chen, Huijia
    Ng, See Ket
    Lane, Ellen Birgitte
    Common, John Edmund Armourer
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2009, 48 (10) : 1078 - 1081
  • [3] Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome
    Griffith, Andrew J.
    Yang, Yandan
    Pryor, Shannon P.
    Park, Hong-Joon
    Jabs, Ethylin Wang
    Nadol, Joseph B., Jr.
    Russell, Laura J.
    Wasserman, Daniel I.
    Richard, Gabriele
    Adams, Joe C.
    Merchant, Saumil N.
    LARYNGOSCOPE, 2006, 116 (08): : 1404 - 1408
  • [4] Aberrant Connexin26 Hemichannels Underlying Keratitis-Ichthyosis-Deafness Syndrome Are Potently Inhibited by Mefloquine
    Levit, Noah A.
    Sellitto, Caterina
    Wang, Hong-Zhan
    Li, Leping
    Srinivas, Miduturu
    Brink, Peter R.
    White, Thomas W.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 (04) : 1033 - 1042
  • [5] Mefloquine inhibits connexin26 hemichannel mutants linked to keratitis-ichthyosis-deafness syndrome.
    Levit, N. A.
    White, T. W.
    MOLECULAR BIOLOGY OF THE CELL, 2012, 23
  • [6] A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
    Montgomery, JR
    White, TW
    Martin, BL
    Turner, ML
    Holland, SM
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2004, 51 (03) : 377 - 382
  • [7] Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
    Dalamon, Viviana Karina
    Buonfiglio, Paula
    Larralde, Margarita
    Craig, Patricio
    Lotersztein, Vanesa
    Choate, Keith
    Pallares, Norma
    Diamante, Vicente
    Elgoyhen, Ana Belen
    BMC MEDICAL GENETICS, 2016, 17
  • [8] MUTATION-TARGETED SIRNA THERAPY FOR CONNEXIN 26-ASSOCIATED KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
    Lee, M.
    Wang, H.
    White, T. W.
    Brooks, T.
    Halai, H.
    Petrova, A.
    Hart, S. L.
    Kinsler, V. A.
    Di, W.
    CYTOTHERAPY, 2019, 21 (05) : E10 - E10
  • [9] From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome
    Garcia, Isaac E.
    Bosen, Felicitas
    Mujica, Paula
    Pupo, Amaury
    Flores-Munoz, Carolina
    Jara, Oscar
    Gonzalez, Carlos
    Willecke, Klaus
    Martinez, Agustin D.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (03) : 574 - 583
  • [10] Keratitis-Ichthyosis-Deafness Syndrome Associated Mutations Impair the Localization and Functions of Connexin 26
    Aypek, H.
    Mese, G.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 : S63 - S63
12345