Results 11 to 20 of about 450 (144)

Genomic Organization and Fine Mapping of the Keratin 2e Gene (KRT2E): K2e V1 Domain Polymorphism and Novel Mutations in Ichthyosis Bullosa of Siemens [PDF]

Journal of Investigative Dermatology, 1998
We and others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin K2e. Here, we have determined the genomic organization and complete sequence of the KRT2E gene, which consists of nine exons, spanning ...
Frances J.D. Smith, Chetan Maingi, Seana P. Covello, Caroline Higgins, Maike Schmidt, E. Birgitte Lane, Jouni Uitto, I. M. Leigh, W.H. Irwin McLean   +8 more
semanticscholar   +5 more sources

A Novel Asparagine→Aspartic Acid Mutation in the Rod 1A Domain in Keratin 2e in a Japanese Family with Ichthyosis Bullosa of Siemens [PDF]

Journal of Investigative Dermatology, 2000
Ichthyosis bullosa of Siemens is a unique type of congenital ichthyosis characterized by mild hyperkeratosis over the flexural areas and blister formation after mechanical trauma and superficial denuded areas in the hyperkeratotic skin. Recently, mutations in the helix initiation or termination motifs of keratin 2e (KRT2E) have been described in ...
Yasuko Takizawa, Hiroshi Shimizu, Masashi Akiyama, Masaji Nagashima   +3 more
semanticscholar   +5 more sources

Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens is a blistering disorder with autosomal dominant inheritance. The disease resembles bullous congenital ichthyosiform erythroderma but is less severe. Keratins K1 and K10 have been implicated in bullous congenital ichthyosiform erythroderma. Linkage analysis pointed to the involvement of a keratin type II gene (12q11-13) in
Hannie Kremer, Patrick L.J.M. Zeeuwen, W.H. Irwin McLean, Edwin C.M. Mariman, E. Birgitte Lane, Peter C M van de Kerkhof, H.H. Ropers, Peter M. Steijlen   +7 more
semanticscholar   +5 more sources

A Glutamate to Lysine Mutation at the End of 2B Rod Domain of Keratin 2e Gene in Ichthyosis Bullosa of Siemens

Acta Dermato-Venereologica, 1998
Ichthyosis bullosa of Siemens is a rare autosomal dominant skin disorder whose clinical findings are quite similar to those of epidermolytic hyperkeratosis. The differences between those two diseases include absence of erythroderma and different distributions in the skin in ichthyosis bullosa of Siemens.
Jun Yang, Eleanor S. Lee, H.J. Kang, Gug-Seoun Choi, K. Yoneda, S.Y. Jung, K B Park, Peter M. Steinert, Eleanor S. Lee   +8 more
semanticscholar   +5 more sources

A Novel Threonine → Proline Mutation at the End of 2B Rod Domain in the Keratin 2e Chain in Ichthyosis Bullosa of Siemens

Journal of Investigative Dermatology, 1997
We report a novel mutation in a case of ichthyosis bullosa of Siemens that results in a threonine --> proline substitution in a novel location, codon 485 in a highly conserved residue position of the IATYRKLLEGE consensus motif at the end of the 2B rod domain segment of the keratin 2e chain.
Jun-Mo Yang, Seewoo Lee, Hyeong-Don Bang, Won-Serk Kim, Eil-Soo Lee, Peter M. Steinert   +5 more
semanticscholar   +5 more sources

Ichthyosis Bullosa of Siemens–A Disease Involving Keratin 2e

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens (IBS) is a congenital bullous ichthyosis without erythroderma. In contrast to bullous congenital ichthyosiform erythroderma (BCIE), there is a relatively mild involvement of the skin and epidermolytic hyperkeratosis (EHK) is restricted to the upper suprabasal layers of the epidermis.
W.H. Irwin McLean, Susan M. Morley, E. Birgitte Lane, Robin A.J. Eady, W.A.D. Griffiths, D.G. Paige, John Harper, Caroline Higgins, Irene M. Leigh   +8 more
semanticscholar   +5 more sources

Ichthyosis Bullosa of Siemens: Report of a Sporadic Case

The Journal of Dermatology, 1995
AbstractWe report a sporadic case of ichthyosis bullosa of Siemens occurring in a Korean boy. In this report, the varied findings of the clinical features in one subject over five years are presented along with an investigation of the ultrastructural alteration.
Soo‐Chan Kim, Won Hur, Jin Won, Sung Ku Ahn   +3 more
semanticscholar   +6 more sources

Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens, but in contrast to ichthyosis bullosa of Siemens no histologic signs typical for epidermolytic ...
Peter M. Steijlen, Hannie Kremer, F Vakilzadeh, Rudolf Happle, A.P.M. Lavrijsen, Hans‐Hilger Ropers, Edwin C.M. Mariman   +6 more
semanticscholar   +5 more sources

Ichthyosis Bullosa of Siemens [PDF]

Definitions, 2020

semanticscholar   +3 more sources

Ichthyosis bullosa of Siemens sans blistering with extracutaneous features: A subtype or association?

Indian Journal of Paediatric Dermatology, 2015
1. Sybert VP. Hypomelanosis of Ito. Pediatr Dermatol 1990;7:74‐6. 2. Pascual‐Castroviejo I, López‐Rodriguez L, de la Cruz Medina M, Salamanca‐Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases.
Abhijit Saha, Priyanka Sarkar, Subrata Malakar   +2 more
semanticscholar   +4 more sources