Results 71 to 80 of about 695 (177)

Mutation Analysis of the ADAR1 Gene in Dyschromatosis Symmetrica Hereditaria and Genetic Differentiation from both Dyschromatosis Universalis Hereditaria and Acropigmentatio Reticularis

, 2005
Dyschromatosis symmetrica hereditaria (DSH) (also called “reticulate acropigmentation of Dohi”) is a pigmentary genodermatosis of autosomal dominant inheritance.
Kono, Michihiro, Terui, Tadashi, Fukai, Kazuyoshi, Abe, Masatoshi, Horikawa, Tatsuya, Tsujioka, Kaoru, Inagaki, Katsuhiko, Sato, Kenji, Kawai, Masaaki, Takama, Hiromichi, Matsumoto, Kazuhiko, Ishikawa, Osamu, Suzuki, Noriyuki, Tomita, Yasushi, Ito, Shiro, Shimizu, Hiroshi, Yoshida, Kunihiro, Suzuki, Tamio   +17 more
core   +1 more source

Diffuse hyperpigmented macules in a 48‐year‐old woman

JEADV Clinical Practice, Volume 3, Issue 2, Page 782-784, June 2024.
Mireia Seguí, Pedro Rodríguez‐Jiménez, Aurora Fernández‐Galván, Javier Fraga, Pablo Chicharro   +4 more
wiley   +1 more source

Three mutations in SASH1 cause the pathogenesis of dyschromatosis universalis hereditaria (DUH)

, 2011
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hyper- and hypopigmented macules which form a reticulate or mottled pattern.
Zhiyun Wei, Qinghe Xing, Dingan Zhou
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Ten Novel Mutations of the ADAR1 Gene in Japanese Patients with Dyschromatosis Symmetrica Hereditaria

, 2006
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that
Kono, Michihiro, Katsuhiko Inagaki, Horikawa, Tatsuya, Noriyuki Suzuki, Inagaki, Katsuhiko, Ishiko, Akira, Kayoko Matsunaga, Hiroko Tosaki-Ichikawa, Yumi Aoyama, Tamio Suzuki, Aoyama, Yumi, Sakuhei Fujiwara, Michihiro Kono, Suzuki, Noriyuki, Fujiwara, Sakuhei, Matsunaga, Kayoko, Shiro Ito, Akira Ishiko, Tomita, Yasushi, Ito, Shiro, Tosaki-Ichikawa, Hiroko, Suzuki, Tamio, Tatsuya Horikawa, Yasushi Tomita   +23 more
core   +1 more source

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene [PDF]

, 2016
Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene.
Li, Ming, Ming Li, Li, Zhixiu, Shao, Minhua, Wang, Xiuli, Zhixiu Li, Yong Gu, Zhang, Guolong, Xiuli Wang, Guolong Zhang, Du, Xufeng, Minhua Shao, Xufeng Du, Gu, Yong   +13 more
core   +1 more source

Dyschromatosis universalis hereditaria with mucosal and palmar involvement

Pigment International
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis. It is clinically characterized by the symmetrical distribution of hyperpigmented and hypopigmented macules that give an impression of mottling. The cosmetic disfigurement accompanying
Yogesh Devaraj, Neethu Nag, Nikitha Reddy Mittamedi, Taranpreet Kaur Kalra   +3 more
doaj   +1 more source

Dyschromatosis Universalis.

Indian journal of dermatology, venereology and leprology, 2017
Hyperpigmented macules all over the body intermignled with mottled depigmentation were observed in two brothers from Varanasi. Hyperpigmented macules were present since birth and increased ill number and size during childhood. Depigmentation developed at the age of eigh, years and increased during adolescence.
P K, Singh, B V, Ramachandra, S S, Pandey, Gurmohan, Singh   +3 more
openaire   +1 more source

Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria

, 2013
Dyschromatosis universalis hereditaria (DUH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body. No causative genes have been reported to date.
Tian, Yuke, Fang, Mingyan, Mei, Aihua, Yin, Ye, Chen, Xingping, Huang, Mi, Archacki, Stephen, Cui, Xiukun, Wang, Jun, Wang, Qing, Deng, Yunhua, Su, Zheng, Ren, Weiping, Zhang, Jianguo, Zhang, Qingyan, Liu, Mugen, Chen, Yingling, Li, Duanzhuo, Zhang, Caie, Liu, Dongxian, Li, Chang, Yang, Huanming   +21 more
core   +1 more source

Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria

, 2003
Dyschromatosis symmetrica hereditaria (DSH) (also called “reticulate acropigmentation of Dohi”) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the ...
Kono, Michihiro, Inagaki, Katsuhiko, Miyamura, Yoshinori, Suzuki, Noriyuki, Tomita, Yasushi, Ito, Shiro, Suzuki, Tamio   +6 more
core   +1 more source

Two Frameshift Mutations in the RNA-Specific Adenosine Deaminase Gene Associated With Dyschromatosis Symmetrica Hereditaria [PDF]

, 2020
Objective: To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH). Design: Pedigree study.
MD; Yun-Qing Ren, Cui Zhang, PhD; Xue-Jun Zhang, MD; Wen-Hui Du, China ; Hefei, Wang, MD; Kai-Yue Zhang, Drs Gao, ( Drs, MD; Kai-Lin Yan, X.-J Zhang, MD; Jian-Jun Chen, K.-Y Zhang, Hu, Zhu, Ren, Du G.-L Yang, Yan Chen, Xiao, MD; Guo-Long Zhang, MD; Feng-Li Xiao, Huang ) Xu, MD; Pei-Guang Wang, MD; Min Gao, PhD; Xiao-Li Hu, MD; Ya-Gang Zhu, Chinese National, MD; Shi-Jie Xu, MD Wei Huang, MD; Yong Cui, MD Sen Yang   +27 more
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