Literature DB >> 12406348

Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.

Dong-Youn Lee, Kwang-Sung Ahn, Cha-Hui Lee, Nark-Kyoung Rho, Joo-Heung Lee, Eil-Soo Lee, Peter M Steinert, Jun-Mo Yang.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12406348     DOI： 10.1046/j.1523-1747.2002.00061.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


× No keyword cloud information.
  4 in total

1.  Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

Authors:  Yutaka Shimomura; Muhammad Wajid; Lynn Petukhova; Mazen Kurban; Angela M Christiano
Journal:  Am J Hum Genet       Date:  2010-03-25       Impact factor: 11.025

2.  Epidermolytic Ichthyosis Sine Epidermolysis.

Authors:  Marina Eskin-Schwartz; Marianna Drozhdina; Ofer Sarig; Andrea Gat; Tomer Jackman; Ofer Isakov; Noam Shomron; Liat Samuelov; Natalia Malchin; Alon Peled; Dan Vodo; Alain Hovnanian; Thomas Ruzicka; Sergei Koshkin; Robert M Harmon; Jennifer L Koetsier; Kathleen J Green; Amy S Paller; Eli Sprecher
Journal:  Am J Dermatopathol       Date:  2017-06       Impact factor: 1.533

3.  Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.

Authors:  Katarzyna Osipowicz; Katarzyna Wertheim-Tysarowska; Bartłomiej Kwiek; Ewa Jankowska; Monika Gos; Agnieszka Charzewska; Katarzyna Woźniak; Cezary Kowalewski
Journal:  Postepy Dermatol Alergol       Date:  2020-09-02       Impact factor: 1.837

4.  A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.

Authors:  Verena K Affolter; Sarah Kiener; Vidhya Jagannathan; Terry Nagle; Tosso Leeb
Journal:  PLoS One       Date:  2022-10-17       Impact factor: 3.752
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.