Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene-Reference-Cited by-同舟云学术

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

Published:1994-09 Issue:3 Volume:103 Page:286-289
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Kremer Hannie,Zeeuwen Patrick,McLean W H Irwin,Mariman Edwin C M,Lane E Birgitte,van de Kerkhof Peter C M,Ropers Hans-Hilger,Steijlen Peter M

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference26 articles.

1. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes;Cheng;Cell,1992

2. A leucine → proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis;Chipev;Cell,1992

3. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis;Rothnagel;Science,1992

4. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma);Ishida-Yamamoto;J Invest Dermatol,1992

5. Dichtung und Wahrheit uber die ‘Ichthyosis bullosa’ mit Bermerkungen zur Systematik der Epidermolysen;Siemens;Arch Dermatol Syphilol,1937

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1. First Case of Superficial Epidermolytic Ichthyosis Successfully Treated by Dupilumab;Dermatitis®;2024-07-01

2. Investigations into the FLG Null Phenotype: Showcasing the Methodology for CRISPR/Cas9 Editing of Human Keratinocytes;Journal of Investigative Dermatology;2023-08

3. Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2;Journal of the European Academy of Dermatology and Venereology;2022-11-17

4. Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2;International Journal of Molecular Sciences;2022-07-14

5. Generalized blistering and erythroderma in a young girl;Pediatric Dermatology;2022-05

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