A Case of Bullous Congenital Ichthyosiform Erythroderma (BCIE) Caused by a Mutation in the 1A Helix Initiation Motif of Keratin 1

2005 ◽  
Vol 32 (10) ◽  
pp. 801-808
Author(s):  
Hiroshi Uezato ◽  
Yu-ichi Yamamoto ◽  
Chojiro Kuwae ◽  
Kimiko Nonaka ◽  
Minoru Oshiro ◽  
...  
Keyword(s):  
Congenital Ichthyosiform Erythroderma ◽  
Keratin 1

scholarly journals An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1

1998 ◽  
Vol 111 (6) ◽  
pp. 1224-1226 ◽  
Author(s):  
Hannie Kremer ◽  
Edwin C.M. Mariman ◽  
Adriana P.M. Lavrijsen ◽  
W.H. Irwin McLean ◽  
E. Birgitte Lane ◽  
...  
Keyword(s):  
Linker Region ◽  
Atypical Form ◽  
Congenital Ichthyosiform Erythroderma ◽  
Keratin 1

Congenital Ichthyosiform Erythroderma: Particulate Staining Pattern of TGK

1999 ◽  
Vol 26 (12) ◽  
pp. 791-796
Author(s):  
Ken Hashimoto ◽  
Kazuaki Tanaka ◽  
Indira Misra ◽  
Tor Shwayder ◽  
Ali Moiin
Keyword(s):  
Staining Pattern ◽  
Congenital Ichthyosiform Erythroderma

scholarly journals Differentiation-specific expression of human keratin 1 is mediated by a composite AP-1/steroid hormone element.

1994 ◽  
Vol 269 (10) ◽  
pp. 7443-7449
Author(s):  
B. Lu ◽  
J.A. Rothnagel ◽  
M.A. Longley ◽  
S.Y. Tsai ◽  
D.R. Roop
Keyword(s):  
Steroid Hormone ◽  
Specific Expression ◽  
Keratin 1

scholarly journals Human keratin 1/10‐1B tetramer structures reveal a knob‐pocket mechanism in intermediate filament assembly

2019 ◽  
Vol 38 (11) ◽  
Author(s):  
Sherif A Eldirany ◽  
Minh Ho ◽  
Alexander J Hinbest ◽  
Ivan B Lomakin ◽  
Christopher G Bunick
Keyword(s):  
Intermediate Filament ◽  
Filament Assembly ◽  
Keratin 1

Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma

2010 ◽  
Vol 38 (8) ◽  
pp. 813-816 ◽  
Author(s):  
Şirin YAŞAR ◽  
Ayşe Tülin MANSUR ◽  
İkbal Esen AYDINGŎZ ◽  
Fatih GŎKTAY ◽  
Gamze Erfan TÜRKER ◽  
...  
Keyword(s):  
Congenital Ichthyosiform Erythroderma ◽  
Melanoma Skin

scholarly journals ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay

2015 ◽  
Vol 95 (6) ◽  
pp. 747-749 ◽  
Author(s):  
Y Inoue ◽  
M Yamamoto ◽  
Y Sakaguchi ◽  
O Jitsukawa ◽  
K Hayano ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Ichthyosiform Erythroderma

Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome

2000 ◽  
Vol 25 (8) ◽  
pp. 611-614 ◽  
Author(s):  
V. A. Hill ◽  
W. A. D. Griffiths ◽  
M. G . Kerr-Muir ◽  
S. Hardman-Lea
Keyword(s):  
Noonan Syndrome ◽  
Ocular Albinism ◽  
Congenital Ichthyosiform Erythroderma
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