Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis

2014 ◽  
Vol 40 (8) ◽  
pp. 921-923 ◽  
Author(s):  
M. Pietrusiński ◽  
A. Stańczyk-Przyłuska ◽  
D. Chlebna-Sokól ◽  
E. Borkowska ◽  
B. Kalużewski ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1 ◽  
Clinical Consequences

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

1995 ◽  
Vol 9 (3) ◽  
pp. 279-283 ◽  
Author(s):  
Laura J. Russell ◽  
John J. DiGiovanna ◽  
Geraldine R. Rogers ◽  
Peter M. Steinert ◽  
Nemat Hashem ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1

New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis

2009 ◽  
Vol 34 (8) ◽  
pp. 904-909 ◽  
Author(s):  
X. Cao ◽  
Z. Lin ◽  
H. Yang ◽  
D. Bu ◽  
P. Tu ◽  
...  
Keyword(s):  
Lamellar Ichthyosis ◽  
Transglutaminase 1 ◽  
New Mutations

Lamellar Ichthyosis: Response to Etretinate With Transglutaminase 1 Recovery

2000 ◽  
Vol 22 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Ken Hashimoto ◽  
Suzanne Gee ◽  
Kazuaki Tanaka
Keyword(s):  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

2012 ◽  
Vol 3 (10) ◽  
pp. e416-e416 ◽  
Author(s):  
A Terrinoni ◽  
V Serra ◽  
A Codispoti ◽  
E Talamonti ◽  
L Bui ◽  
...  
Keyword(s):  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

1998 ◽  
Vol 6 (6) ◽  
pp. 589-596 ◽  
Author(s):  
Maritta Pigg ◽  
Tobias Gedde-Dahl Jr ◽  
Diane Cox ◽  
Ingrid Haußer ◽  
Ingrun Anton-Lamprecht ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Lamellar Ichthyosis ◽  
Strong Founder Effect ◽  
Transglutaminase 1 ◽  
Congenital Ichthyosiform Erythroderma

P242 Visualization of transglutaminase 1 deficiency in lamellar ichthyosis

1997 ◽  
Vol 9 ◽  
pp. S208-S209
Author(s):  
M RHAGUNATH ◽  
F VELTEN ◽  
H HENNIES ◽  
A REIS ◽  
P STEINERT ◽  
...  
Keyword(s):  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals Novel Transglutaminase 1 Gene Mutations (R348X/Y365D) in a Japanese Family with Lamellar Ichthyosis

2003 ◽  
Vol 120 (1) ◽  
pp. 170-172 ◽  
Author(s):  
Atsushi Kon ◽  
Hitoshi Takeda ◽  
Hideyuki Sasaki ◽  
Kozo Yoneda ◽  
Kazuo Nomura ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Japanese Family ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies

2012 ◽  
Vol 132 (7) ◽  
pp. 1918-1921 ◽  
Author(s):  
Karin Aufenvenne ◽  
Robert H. Rice ◽  
Ingrid Hausser ◽  
Vinzenz Oji ◽  
Hans Christian Hennies ◽  
...  
Keyword(s):  
Mouse Model ◽  
Humanized Mouse ◽  
Humanized Mouse Model ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1
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