Results 1 to 10 of about 4,297 (127)

Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria

Indian Journal of Dermatology, 2022
Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder.
Xiaoying Ning, Shengxiang Xiao, Yanfei Zhang   +2 more
doaj   +2 more sources

Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain [PDF]

Journal of Neuroinflammation, 2021
Background Aicardi-Goutières syndrome (AGS) is a severe infant or juvenile-onset autoimmune disease characterized by inflammatory encephalopathy with an elevated type 1 interferon-stimulated gene (ISG) expression signature in the brain.
Xinfeng Guo, Clayton A. Wiley, Richard A. Steinman, Yi Sheng, Beihong Ji, Junmei Wang, Liyong Zhang, Tony Wang, Mazen Zenatai, Timothy R. Billiar, Qingde Wang   +10 more
doaj   +2 more sources

Two Novel and Two Recurrent Variants of the ADAR1 Gene in Three Chinese Families with Dyschromatosis Symmetrica Hereditaria [PDF]

Clinical, Cosmetic and Investigational Dermatology
Yunxia Zhu,1 Deng Zhang,1 Liang Wu,1 Xiaoliang Ouyang,2 Shengcai Zhu,1 Xiuping Wang,1 Zhen Xiao,3 Yanping Tan,4 Chunming Li1 1Department of Dermatology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi ...
Zhu Y, Zhang D, Wu L, Ouyang X, Zhu S, Wang X, Xiao Z, Tan Y, Li C   +8 more
doaj   +2 more sources

A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review [PDF]

Clinical, Cosmetic and Investigational Dermatology
Hongping Ge,1,2 Na Zhang,1 Xinru Chen,1,3 Meiyan Wang,1 Tianhui Ye1,3 1Department of Dermatology, Jinhua Municipal Central Hospital (Affiliated Jinhua Hospital, Zhejiang University School of Medicine), Jinhua City, Zhejiang Province, People’s Republic of
Ge H, Zhang N, Chen X, Wang M, Ye T
doaj   +2 more sources

Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the <i>ADAR1</i> c.<i>3019G</i>>A Variant. [PDF]

Clin Case Rep
ABSTRACT Aicardi–Goutières syndrome type 6 (AGS6) is a genetically determined autoinflammatory disorder, classically inherited in an autosomal recessive manner. We report a Czech child with a heterozygous ADAR1 NM_001111.5:c.3019G>A variant causing AGS6.
Turan K, Pokorna P, Rihova K, Kubatova J, Kozelkova K, Hlouskova E, Danhofer P, Jabandziev P, Damborsky J, Demlova R, Slaby O, Slaba K.   +11 more
europepmc   +2 more sources

Depletion of the RNA-Editing Enzyme ADAR1 Invigorates the Antitumor Immunity of NK Cells. [PDF]

Adv Sci (Weinh)
ADAR1 is upregulated in NK cells from melanoma patients, impairing their function. Its loss enhances NK cell tumor infiltration and cytotoxicity in vitro and in vivo. Mechanistically, ADAR1 deficiency destabilizes CD38 mRNA to reduce its expression, thereby increasing NK cell mobility and killing, which nominates it as a therapeutic target for NK cell ...
Chen S, Lu D, Liang R, Tan W, Zhao E, Wu S, Li X, Song Y, Wan M, Xie X, Zhang Q, Liu Q.   +11 more
europepmc   +2 more sources

ADAR1 Controls Macrophage Scavenging and Lipid-Buffering Programs in Metabolic Tissues. [PDF]

Eur J Immunol
ADAR1 expression increase during monocyte‐to‐macrophage differentiation via an alternative transcription start site. Isoform‐specific ADAR1 activity governs key macrophage functions, including efferocytosis, endocytosis, lipid metabolism, and proliferation.
Fardellas A, Barreby E, Brice M, Nock S, Russick J, Vankova A, Edberg C, Robertsen I, Hertel JK, Stål P, Mellgren G, Karlsson C, Hjelmesaeth JS, Hagström H, Näslund E, Lauschke VM, Fernø J, Chen P, Morgantini C, Aouadi M, Björkström NK.   +20 more
europepmc   +2 more sources

Orchestrating innate immunity through RNA editing and helicase activity: ADAR1, dsRNA sensors, and tumor immune evasion [PDF]

Frontiers in Cell and Developmental Biology
Dysregulated dsRNA editing and RNA metabolism in cancer contribute to immune evasion, highlighting the critical role of RNA structural regulation in disease.
Moeko Minakuchi, Joseph M. Salvino, Jessie Villanueva   +2 more
doaj   +2 more sources

Alternative splicing isoform of ADAR1-like computational and functional analysis in Ephinephelus malabaricus [PDF]

Comparative Immunology Reports
In mammals, numerous ADAR1 splicing isoforms exist, including the constitutively expressed ∼110 kDa protein (ADAR1-p110) and the interferon (IFN)-inducible ∼150 kDa protein (ADAR1-p150).
Thirunavukkarasu Periyasamy, Ming-Wei Lu, Pinwen Peter Chiou   +2 more
doaj   +2 more sources

Inhibiting ADAR1-Mediated Excessive Epigenetic A-to-I RNA Editing Improves the Immune Microenvironment and Increases Sensitivity to Immunotherapy in Lung Adenocarcinoma. [PDF]

MedComm (2020)
This study investigated the potential of inhibiting ADAR1 which catalyzed excessive A‐to‐I RNA editing as a therapeutic strategy to augment the effectiveness of immunotherapy in LUAD. Mouse models demonstrated that inhibiting ADAR1 in tumor cells significantly improved the immune microenvironment by increasing PD‐L1 expression and CD8+ T‐cell ...
Wang S, Zheng S, Liu C, Zhang C, Wang X, Wang Z, Wang Y, Feng X, Xue Q, Sun N, He J.   +10 more
europepmc   +2 more sources