Results 71 to 80 of about 4,347 (166)

Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi–Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)

Stem Cell Research, 2020
Aicardi-Goutières syndrome (AGS) is a hereditary early onset encephalopathy. AGS patients display variable clinical manifestations including intracranial calcification, cerebral atrophy, white matter abnormalities and characteristic leukocytosis as well ...
Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Lena Wendeburg, Doris Steinemann, Christiane Elpers, Frank Rutsch, Renate König   +9 more
doaj   +1 more source

ADAR1 expression is associated with cervical cancer progression and negatively regulates NK cell activity

JCI Insight
ADAR1 edits double-stranded RNAs (dsRNAs) by deaminating adenosines into inosines, preventing aberrant activation of innate immunity by endogenous dsRNAs, which may resemble viral structures.
Valentina Tassinari, Marta Kaciulis, Stefano Petrai, Helena Stabile, Angelina Pernazza, Martina Leopizzi, Valeria Di Maio, Francesca Belleudi, Danilo Ranieri, Vanessa Mancini, Innocenza Palaia, Federica Tanzi, Ludovica Lospinoso Severini, Silvia Ruggeri, Maria Emanuela Greco, Giovanni Bernardini, Alessandra Zingoni, Marco Cippitelli, Cristina Cerboni, Alessandra Soriani   +19 more
doaj   +1 more source

In Silico Characterization of ADAR1: Structure, Dynamics, and Functional Implications

Current Issues in Molecular Biology
Adenosine deaminase acting on RNA 1 (ADAR1) is an essential RNA-editing enzyme responsible for the hydrolytic deamination of adenosine to inosine (A-to-I) in double-stranded RNA.
Carolyn N. Ashley, Emmanuel Broni, ChaNyah M. Wood, Whelton A. Miller   +3 more
doaj   +1 more source

Two novel ADAR1 gene mutations in two patients with dyschromatosis symmetrical hereditaria from birth

Molecular Medicine Reports, 2017
Dyschromatosis symmetrica hereditaria (DSH) is a rare type of pigmentary genodermatosis, which is autosomal dominantly inherited with high penetrance. The onset of DSH is typically during infancy or childhood. Cases of patients born with skin lesions have rarely been reported.
Qian, Zhou, Linglin, Zhang, Yunfeng, Zhang, Hao, Luo, Lude, Zhu, Peiru, Wang, Guolong, Zhang, Xiuli, Wang   +7 more
openaire   +3 more sources

Pan-cancer analysis of ADAR1 with its prognostic relevance in low-grade glioma

Immunobiology
ADAR1, known as the primary enzyme for adenosine-to-inosine RNA editing, has recently been implicated in cancer development through both RNA editing-dependent and −independent pathways.
Qin Yang, Xin Li
doaj   +1 more source

Dyschromatosis symmetrica hereditaria: A retrospective case series and literature review

Dermatologica Sinica, 2013
Background/Objective: Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities.
Amy Chia-Ying Peng, Yi-An Chen, Sheau-Chiou Chao   +2 more
doaj   +1 more source

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

Dyschromatosis symmetrica hereditaria

Journal of Clinical and Scientific Research
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterised by a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the hands and feet.
K. Geetha
doaj   +1 more source

Epitranscriptome-wide profiling identifies RNA editing events regulated by ADAR1 that are associated with DNA repair mechanisms in human TK6 cells

Frontiers in Genetics
IntroductionAdenosine-to-Inosine (A-to-I) editing is an endogenous RNA modification in eukaryotes, catalyzed by adenosine deaminases acting on RNA (ADARs). This modification modulates the gene expression by influencing splicing, RNA stability, and coding
Akito Yoshida, Yuqian Song, Hotaru Takaine, Sujin Song, Nonoka Konishi, Yu-Hsien Hwang-Fu, Zachary Johnson, Kiyoe Ura, Akira Sassa   +8 more
doaj   +1 more source

ADAR1 haploinsufficiency and sustained picornaviral RdRp dsRNA synthesis synergize to dysregulate RNA editing and cause multi-system interferonopathy

mBio
Sensing of viral double-stranded RNA (dsRNA) by MDA5 triggers abundant but transient interferon-stimulated gene (ISGs) expression. If dsRNA synthesis is made persistent by transgenically expressing a picornaviral RNA-dependent RNA polymerase (RdRp) in ...
Caitlin M. Miller, James H. Morrison, Laura Bankers, Rachael Dran, Julia M. Kendrick, Emma Briggs, Virginia L. Ferguson, Eric M. Poeschla   +7 more
doaj   +1 more source