Results 51 to 60 of about 434 (146)

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Folia Neuropathologica, 2016
Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria,
Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka   +9 more
doaj   +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
core  

Table2_Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing.xlsx

, 2023
BackgroundDyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic
Qian Ma (69668), Lingyi Che (12061853), Yibing Chen (71110), Zhuoyu Gu (5750051)   +3 more
core   +1 more source

Dyschromatosis Symmetrica Hereditaria (1q21.3, 6q24.2-q25.2)

, 2008
openaire   +2 more sources

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

Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum

Frontiers in Genetics, 2019
BackgroundXeroderma pigmentosum (XP) is a rare autosomal, recessive, inherited disease. XP patients exhibit high sensitivity to sunlight and increased incidence of skin cancer.
Xiaokai Fang, Yonghu Sun
doaj   +1 more source

Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption

The Journal of Dermatology, 2017
Reina Omura, Kazuyoshi Fukai, Koji Sugawara, Daisuke Tsuruta, Ken Okamura, Yutaka Hozumi, Tamio Suzuki   +6 more
openaire   +2 more sources

Recurrent encephalopathy with spinal cord involvement: An atypical manifestation of Aicardi–Goutières syndrome

Annals of Indian Academy of Neurology, 2019
Aicardi–Goutières syndrome (AGS) is a rare, genetic inflammatory disease due to mutations in any of the seven genes discovered to date (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1).
Debopam Samanta, Raghu Ramakrishnaiah
doaj   +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

A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Genetics and Molecular Research, 2012
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We studied a Chinese family
M L, Lai, L J, Yang, X H, Zhu, M, Li
openaire   +2 more sources