Plectin mutations underlie epidermolysis bullosa with muscular dystrophy.

被引:0
|
作者
Pulkkinen, L
Smith, FJD
McLean, WHI
Lane, EB
Leigh, IM
Eady, RAJ
McGrath, J
Christiano, AM
Murata, S
Yaoita, H
Hatchisuka, H
Shimizu, H
Nishikawa, T
Uitto, J
机构
[1] UNIV DUNDEE,DUNDEE DD1 4HN,SCOTLAND
[2] ROYAL LONDON HOSP,LONDON E1 1BB,ENGLAND
[3] ST JOHNS INST DERMATOL,LONDON,ENGLAND
[4] KEIO UNIV,SCH MED,TOKYO,JAPAN
[5] THOMAS JEFFERSON UNIV,JEFFERSON MED COLL,PHILADELPHIA,PA 19107
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
引用
收藏
页码:197 / 197
页数:1
相关论文
共 50 条
  • [1] Mutations in the plectin gene cause epidermolysis bullosa with muscular dystrophy.
    McLean, WHI
    Pulkkinen, L
    Smith, FJD
    Rugg, EL
    Bullrich, F
    Burgeson, RE
    Amano, S
    Hudson, DL
    Owaribe, K
    McGrath, JA
    Eady, RAJ
    Leigh, IM
    Lane, EB
    Christiano, AM
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (01) : HB10 - HB10
  • [2] Homozygous frameshift mutations in the plectin gene cause epidermolysis bullosa with muscular dystrophy.
    Smith, FJD
    Pulkkinen, L
    Rugtg, EL
    Lane, EB
    Eady, RAJ
    Leigh, IM
    Christiano, AM
    McLean, WHI
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (05) : 9 - 9
  • [3] Defective expression of plectin in epidermolysis bullosa simplex with muscular dystrophy.
    Gache, Y
    Chavanas, S
    Lacour, JP
    Wiche, G
    Owaribe, K
    Meneguzzi, G
    Ortonne, JP
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 222 - 222
  • [4] Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
    Winter, Lilli
    Tuerk, Matthias
    Harter, Patrick N.
    Mittelbronn, Michel
    Kornblum, Cornelia
    Norwood, Fiona
    Jungbluth, Heinz
    Thiel, Christian T.
    Schloetzer-Schrehardt, Ursula
    Schroeder, Rolf
    ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2016, 4
  • [5] Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
    Lilli Winter
    Matthias Türk
    Patrick N. Harter
    Michel Mittelbronn
    Cornelia Kornblum
    Fiona Norwood
    Heinz Jungbluth
    Christian T. Thiel
    Ursula Schlötzer-Schrehardt
    Rolf Schröder
    Acta Neuropathologica Communications, 4
  • [6] Homozygous deletion mutations in the plectin gene in epidermolysis bullosa (EB) associated with late-onset muscular dystrophy.
    Pulkkinen, L
    Smith, FJ
    McLean, WHI
    Murata, S
    Yaoita, H
    Shimizu, H
    Nishikawa, T
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (05) : 10 - 10
  • [7] Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
    Smith, FJD
    Eady, RAJ
    Leigh, IM
    McMillan, JR
    Rugg, EL
    Kelsell, DP
    Bryant, SP
    Spurr, NK
    Geddes, JF
    Kirtschig, G
    Milana, G
    deBono, AG
    Owaribe, K
    Wiche, G
    Pulkkinen, L
    Uitto, J
    McLean, WHI
    Lane, EB
    NATURE GENETICS, 1996, 13 (04) : 450 - 457
  • [8] Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
    McMillan, J. R.
    Akiyama, M.
    Rouan, F.
    Mellerio, J. E.
    Lane, E. B.
    Leigh, I. M.
    Owaribe, K.
    Wiche, G.
    Fujii, N.
    Uitto, J.
    Eady, R. A. J.
    Shimizu, H.
    MUSCLE & NERVE, 2007, 35 (01) : 24 - 35
  • [9] Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients
    Bolling, Marieke C.
    Jongbloed, Jan D. H.
    Boven, Ludolf G.
    Diercks, Gilles F. H.
    Smith, Frances J. D.
    McLean, W. H. Irwin
    Jonkman, Marcel F.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 (01) : 273 - 276
  • [10] EPIDERMOLYSIS BULLOSA WITH LATE-ONSET MUSCULAR DYSTROPHY AND PLECTIN DEFICIENCY
    Yiu, Eppie M.
    Klausegger, Alfred
    Waddell, Leigh B.
    Grasern, Nikolaus
    Lloyd, Lyn
    Tran, Kim
    North, Kathryn N.
    Bauer, Johann W.
    Mckelvie, Penelope
    Chow, C. W.
    Ryan, Monique M.
    Murrell, Dedee F.
    MUSCLE & NERVE, 2011, 44 (01) : 135 - 141