ABSENCE OF EXPRESSION OF THE ALPHA-6-BETA-4 INTEGRIN DEFINES THE PATIENTS WITH JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SUBSET

被引:0
|
作者
TADINI, G
BROWN, TA
SYBERT, VP
LESTRINGANT, GG
CAVALLI, R
BRUSASCO, A
CARTER, WG
机构
[1] CTR INHERITED CUTANEOUS DIS,MILAN,ITALY
[2] FRED HUTCHINSON CANC RES CTR,SEATTLE,WA 98104
[3] UNIV WASHINGTON,DEPT PATHOBIOL,SEATTLE,WA 98195
[4] UNIV WASHINGTON,DEPT DERMATOL,SEATTLE,WA 98195
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:512 / 512
页数:1
相关论文
共 50 条
  • [41] Novel mutations in the ITGB4 gene associated with a mild phenotype in junctional epidermolysis bullosa with pyloric atresia: two siblings with differential expression of pyloric atresia
    Rubin, Adam I.
    Dang, Ningning
    Edwards, Matthew
    Borelli, Siegfried
    Relic, John
    Uitto, Jouni
    Murrell, Dedee F.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (11) : 2686 - 2686
  • [42] THE INTEGRIN ALPHA-6-BETA-4 IS A LAMININ RECEPTOR
    LEE, EC
    LOTZ, MM
    STEELE, GD
    MERCURIO, AM
    JOURNAL OF CELL BIOLOGY, 1992, 117 (03): : 671 - 678
  • [44] Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia (vol 12, pg 716, 2003)
    Iacovacci, S
    Cicuzza, S
    Odorisio, T
    Silvestri, E
    Kayserili, H
    Zambruno, G
    Puddu, P
    D'Alessio, M
    EXPERIMENTAL DERMATOLOGY, 2003, 12 (06) : 925 - 925
  • [45] A FUNCTION FOR THE INTEGRIN ALPHA-6-BETA-4 IN THE HEMIDESMOSOME
    JONES, JCR
    KURPAKUS, MA
    COOPER, HM
    QUARANTA, V
    CELL REGULATION, 1991, 2 (06): : 427 - 438
  • [46] Rapid decay of α6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia
    Allegra, M
    Gagnoux-Palacios, L
    Gache, Y
    Roques, S
    Lestringant, G
    Ortonne, JP
    Meneguzzi, G
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (06) : 1336 - 1343
  • [47] Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4
    Yoshida, Kenji
    Sadamoto, Mariko
    Sasaki, Takashi
    Kubo, Akiharu
    Ishiko, Akira
    JOURNAL OF DERMATOLOGY, 2019, 46 (02): : E61 - E63
  • [48] ROLE OF ELEVATED ALPHA-FETOPROTEIN IN PRENATAL-DIAGNOSIS OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA AND PYLORIC ATRESIA
    NESIN, M
    SEYMOUR, C
    KIM, Y
    AMERICAN JOURNAL OF PERINATOLOGY, 1994, 11 (04) : 286 - 287
  • [49] Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities
    Yoo, Dae San
    Lee, Seung-Ju
    Kim, Song-Ee
    Kim, Soo-Chan
    Lee, Sang Eun
    YONSEI MEDICAL JOURNAL, 2020, 61 (09) : 831 - 833
  • [50] Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice
    GeorgesLabouesse, E
    Messaddeq, N
    Yehia, G
    Cadalbert, L
    Dierich, A
    LeMeur, M
    NATURE GENETICS, 1996, 13 (03) : 370 - 373