Results 61 to 70 of about 4,347 (166)

Extensive editing of cellular and viral double-stranded RNA structures accounts for innate immunity suppression and the proviral activity of ADAR1p150.

open access: yesPLoS Biology, 2018
The interferon (IFN)-mediated innate immune response is the first line of defense against viruses. However, an IFN-stimulated gene, the adenosine deaminase acting on RNA 1 (ADAR1), favors the replication of several viruses.
Christian K Pfaller   +4 more
doaj   +1 more source

Multi‐Tissue Genetic Regulation of RNA Editing in Pigs

open access: yesAdvanced Science, Volume 13, Issue 17, 23 March 2026.
This study presents the first multi‐tissue map of RNA editing and its genetic regulation in pigs. By integrating RNA editing profiles, edQTL mapping, GWAS, and cross‐species comparisons, this work establishes RNA editing as a distinct regulatory layer linking genetic variation to complex traits, highlighting its functional and evolutionary significance.
Xiangchun Pan   +21 more
wiley   +1 more source

Exploring Diagnostic Challenges: A Case Report Commentary on “Solving a Diagnostic Dilemma in a Patient With Periodic Fever—When the Pieces of the Puzzle Finally Fit”

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT This case highlights the diagnostic challenge of distinguishing periodic fever syndromes with prominent neurological features from interferonopathies. While the absence of specific features on MRI/MRA and SAVI reduces the likelihood of certain subtypes, genetic evaluation involving interferon pathway genes remains important.
Fatih Kelesoglu, Adem Polat
wiley   +1 more source

cGAS inhibitor IMSB301 modifies interferon signalling in peripheral mononuclear cells of SAMHD1 genetic interferonopathy in vitro

open access: yesClinical &Translational Immunology, Volume 15, Issue 3, 2026.
Depicts the pathways and mechanisms of the drug. Abstract Objectives Aicardi–Goutières syndrome (AGS) is a rare genetic interferonopathy because of aberrant DNA or RNA metabolism that lacks effective disease modifying therapies. Methods Single‐cell RNA sequencing was performed on peripheral blood mononuclear cells (PBMCs) obtained from a patient with ...
Velda X Han   +12 more
wiley   +1 more source

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

open access: yesChinese Medical Journal, 2016
Background: The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types ...
Jia-Wei Liu   +6 more
doaj   +1 more source

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1

open access: yesStem Cell Research
Mutations in Adenosine deaminase acting on RNA 1 (ADAR1) gene encoding RNA editing enzyme ADAR1 results in the neuroinflammatory leukodystrophy Aicardi Goutières Syndrome (AGS).
Luis Garcia   +8 more
doaj   +1 more source

RNA Regulatory Networks: Key Hubs in the Panorama of Cancer and Emerging Therapeutic Targets

open access: yesMedComm, Volume 7, Issue 3, March 2026.
RNA regulatory networks play a crucial role in the initiation and progression of cancer through various modes of RNA interactions. Notably, circulating RNAs have emerged as potential biomarkers, while targeted interventions in RNA regulatory networks facilitate precise therapeutic strategies. ABSTRACT Cancer is a global health challenge. The initiation
Xuan Yin   +9 more
wiley   +1 more source

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.

open access: yesGenetics and molecular research : GMR, 2014
We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by ...
G L, Zhang   +7 more
openaire   +1 more source

Chromatin Accessibility in Cancer: Biological Functions, Mechanisms, Therapeutic Potential, and Future Directions

open access: yesMedComm, Volume 7, Issue 3, March 2026.
Cancer remains the leading cause of mortality worldwide, and drug resistance further underscores the urgent need for innovative therapeutic strategies. Chromatin, a stable yet highly dynamic nucleoprotein complex, serves as the primary carrier of genetic material in eukaryotic cells.
Wentao Xia   +4 more
wiley   +1 more source

2213 Tumor suppressors p53 and ARF control oncogenic potential of triple-negative breast cancer cells by regulating RNA editing enzyme ADAR1

open access: yesJournal of Clinical and Translational Science, 2018
OBJECTIVES/SPECIFIC AIMS: Triple-negative breast cancer (TNBC) accounts for one-fifth of the breast cancer patient population. The heterogeneous nature of TNBC and lack of options for targeted therapy make its treatment a constant adventure.
Che-Pei Kung   +5 more
doaj   +1 more source

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