Results 61 to 70 of about 695 (177)

A Case of Sporadic Dyschromatosis Universalis Hereditaria [PDF]

Annals of Dermatology, 2015
Dear Editor: Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hypo- and hyper-pigmented macules with a reticulated pattern, giving an overall impression of mottling, over the trunk and limbs. It is generally an autosomal dominant disorder but recessive inheritance and patients without a family history of ...
An, Je Min, Ko, Bum Joon, Cho, Moon Kyun, Whang, Kyu Uang   +3 more
openaire   +2 more sources

The prototypical interferonopathy: Aicardi‐Goutières syndrome from bedside to bench

Immunological Reviews, Volume 327, Issue 1, Page 83-99, October 2024.
Summary Aicardi‐Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by pathogenic mutations in genes controlling cellular anti‐viral responses and nucleic acid metabolism. The mutations initiate autoinflammatory processes in the brain and systemically that are triggered by chronic overproduction of type I interferon (IFN), including
Markus J. Hofer, Nicholson Modesti, Nicole G. Coufal, Qingde Wang, Sunetra Sase, Jonathan J. Miner, Adeline Vanderver, Mariko L. Bennett   +7 more
wiley   +1 more source

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

, 2008
Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive ...
Nürnberg, G., Brakensiek, K., Stuhrmann, M., El-Harith, E.H., Becker, C., Miranda, M.C., Schmidtke, J., Hennies, Hans C., Frye-Boukhriss, H., Huebener, J., Knothe, S., Bukhari, I.A.   +11 more
core   +1 more source

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

WIREs RNA, Volume 15, Issue 3, May/June 2024.
Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey, Letizia Esposito, Erika Maghraby, Alessia Mauri, Clarissa Berardo, Eleonora Bonaventura, Davide Tonduti, Stephana Carelli, Cristina Cereda   +8 more
wiley   +1 more source

as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

, 2014
As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH.We performed genome-wide linkage scan using ...
Sheng D., Fu Xi’an, Lane B.E., Yang B., Tian H., Hung Ken Kwok Hon, Li Y., Zhou Guizhi, Chen M., Liu Q., Lu Xianmei, Zhou G., Zhang F., Irwan Ishak Darryl, Yu Gongqi, You Jiabao, See K., Goh B.K., Common John E. A., Tian Hongqing, Yan X., Cao Y., Liu Hong, See Kelvin, Liu Jian, Liu H., Sun Y., Yu G., Wang Z., Chen X., Common J.E.A., Yu Yongxiang, Hung K.K.H., Fu X., Liu Jianjun, Niu G., Wang N., Cao Yuanhua, Wang Chuan, Zhang Furen, Yu Y., Wang Ting, Zhou Yan, Liu Qiji, Low Huiqi, Lu X., Foo J.N., Li Yi, Yang Baoqi, Liany Herty, Yan Xiaoxiao, Ma S., Wang Zhenhua, Low H., You J., Chen S., Irwan I.D., Chen Mingfei, Zhou Y., Lane Birgitte E., Liu J., Liany H., Foo Jia Nee, Niu Guiye, Wang C., Goh Boon Kee, Ma Shanshan, Chen Shumin, Wang Na, Sheng Donglai, Wang T., Chen Xuechao, Sun Yonghu   +72 more
core   +2 more sources

Dyschromatosis universalis hereditaria: Two cases

Dermatology Online Journal, 2008
Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We describe two Tunisian cases of dyschromatosis universalis hereditaria in a 3-year-old and a 3-month-old girl. They presented to our department with asymptomatic progressive mottled
Kenani, N, Ghariani, N, Denguezli, M, Sriha, B, Belajouza, C, Nouira, R   +5 more
openaire   +4 more sources

Dyschromatosis universalis hereditaria: A rare entity

Dermatology Online Journal, 2011
Dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled hyperpigmented and hypopigmented macules that give an overall impression of mottling. We hereby report a case of dyschromatosis universalis hereditaria in a young female with a family history of ...
Kumar, Sumir, Mahajan, Bharat Bhushan, Jr, Rajwinder Singh   +2 more
openaire   +4 more sources

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria [PDF]

, 2018
2018-05Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities.
Kobayashi, Tomoko, Kono, Michihiro, Tsutsui, Kiyohiro, Takeichi, Takuya, Takai, Ayaka, Suganuma, Mutsumi, Akita, Hirotaka, Inasaka, Yu, Muro, Yoshinao, Akiyama, Masashi   +9 more
core   +1 more source

Identification of the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria

, 2023
Objective To analyze the clinical features and to identify the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria (DSH).
YANG Xueting, GUO Kexin, SUN Yang, WANG Rongrong, MA Donglai, ZHANG Xue
core   +1 more source

Dyschromatosis universalis hereditaria with hypospadias: A rare association

Indian Dermatology Online Journal, 2020
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis, which presents as hyper- and hypopigmented macules all over the body. Although a benign condition, rarely DUH is associated with abnormalities of dermal connective tissue, nerve, and systemic conditions.
Sirka, Chandra Sekhar, Sahu, Kananbala, Rout, Arpita Nibedita   +2 more
openaire   +3 more sources