Results 1 to 10 of about 14,990 (203)

Reverse transcriptase inhibitors in Aicardi–Goutières syndrome: A crossover clinical trial [PDF]

Developmental Medicine &Child Neurology, Volume 67, Issue 6, Page 750-757, June 2025.
Viral nucleic acid recognition induces a physiological type I interferon mediated innate immune response. In some cases of Aicardi‐Goutières syndrome, this same response is proposed to be triggered by self‐derived nucleic acid generated through reverse transcription. Here, reverse transcriptase inhibitors were assessed in such cases.
Yanick J. Crow, Tracy A. Briggs, Despina Eleftheriou, Amitav Parida, Claire Battison, Annabel Giddings, Titouan Kennel, Richard A. Parker, AGS‐RTIs Study Group, Aimee Donald, Paddy Mcmaster, Jay Shetty, Katherine Jack, Alan J Quigley, Alice Burleigh, Felice D’Arco, Cheryl Hemingway, Ying Hong, Elena Moraitis, Fiona Price‐Kuehne, Annapurna Sudarsanam, Evangeline Wassmer, Katie Livingstone, Fraser JH Sutherland, Marie‐Thérèse El‐Daher, John Norrie, Hannah Ensor, Alison F Munro, Lee Murphy, Alan Maclean, Katy R Reid, Deborah Forbes, Vincent Bondet, Darragh Duffy, David PJ Hunt, Gillian I Rice   +35 more
wiley   +2 more sources

CINs of the cytoplasm: dissecting dsRNA signaling in chromosomal instability

Molecular Oncology, EarlyView.
Micronuclei, formed during cell division in chromosomal instability settings, rupture and lead to the accumulation of immunogenic double‐stranded RNA in the cytoplasm, activating MAVS‐dependent interferon signaling and innate antitumor immunity.
Aglaia Skolariki, Rose L. Jady‐Clark, Eileen E. Parkes   +2 more
wiley   +1 more source

Endogenous Retroelement Activation is Implicated in Interferon‐α Production and Anti–Cyclic Citrullinated Peptide Autoantibody Generation in Early Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Objective Endogenous retroelements (EREs) stimulate type 1 interferon (IFN‐I) production but have not been explored as potential interferonogenic triggers in rheumatoid arthritis (RA). We investigated ERE expression in early RA (eRA), a period in which IFN‐I levels are increased.
Faye A. H. Cooles, Gemma Vidal Pedrola, Najib Naamane, Arthur G. Pratt, Ben Barron‐Millar, Amy E. Anderson, Catharien M. U. Hilkens, John Casement, Vincent Bondet, Darragh Duffy, Fan Zhang, Ruchi Shukla, John D. Isaacs   +12 more
wiley   +1 more source

Approaches to repurposing reverse transcriptase antivirals in cancer

British Journal of Clinical Pharmacology, EarlyView.
This review highlights the role of reverse transcriptase (RT) inhibition in cellular regulation associated with non‐terminal repeat retrotransposons and endogenous retroviruses. Based on their pleiotropic characteristics, RT inhibitors (RTIs) are discussed as potential anticancer agents.
Richard Head, Saiful Islam, Jennifer H. Martin   +2 more
wiley   +1 more source

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, EarlyView.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

Discovery of major QTL and a massive haplotype associated with cannabinoid biosynthesis in drug‐type Cannabis

The Plant Genome, Volume 18, Issue 2, June 2025.
Abstract Cannabis (Cannabis sativa L.), once sidelined by decades of prohibition, has now gained recognition as a multifaceted and promising plant in both medical research and commercial applications following its recent legalization. This study leverages a genome‐wide association study (GWAS) on 174 drug‐type Cannabis accessions from the legal ...
Maxime de Ronne, Davoud Torkamaneh
wiley   +1 more source

Baricitinib Treatment in RNU7‐1‐Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Aicardi–Goutières syndrome (AGS) is a rare monogenic type I interferonopathy. Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. RNU7‐1 is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported. Here, we describe the diagnosis and treatment
Timothy F. Spracklen, Shehnaaz Akhalwaya, Sally Ackermann, Carolina Uggenti, Luis Seabra, Yanick J. Crow, Kate Webb   +6 more
wiley   +1 more source

Updates on Toll‐Like Receptor 10 Research

European Journal of Immunology, Volume 55, Issue 5, May 2025.
Toll‐like receptor 10 (TLR10 or CD290) shares the same structural organization as the other TLRs but shows a unique expression pattern and distinct functional activities yet to be fully elucidated. This review summarizes key steps and recent updates on TLR10 research including open questions and future perspectives.
Federica Riva, Marta Muzio
wiley   +1 more source

Polyploidy‐mediated variations in glutamate receptor proteins linked to Fusarium wilt resistance in upland cotton

The Plant Journal, Volume 122, Issue 1, April 2025.
SUMMARY Cotton production in the US faces a serious threat from Fusarium oxysporum f. sp. vasinfectum race 4 (FOV4), a soil‐borne fungus causing Fusarium wilt by infecting the roots and vascular system of susceptible cotton, leading to rapid wilting and death.
Stephen Parris, John T. Lovell, Feng Ding, Zhenzhen Zhang, Jim Olvey, Mike Olvey, Jeremy Schmutz, Jane Grimwood, Avinash Sreedasyam, Sonika Kumar, Zhigang Li, Priyanka Joshi, Jerry W. Jenkins, Christopher Plott, Ada Stewart, Jenell Webber, Warwick N. Stiller, Don C. Jones, Christopher A. Saski   +18 more
wiley   +1 more source

Transcriptomic Divergence and Associated Markers Between Genomic Lineages of Silver Catfish (Rhamdia quelen)

Ecology and Evolution, Volume 15, Issue 3, March 2025.
We present transcriptomic divergence between two latitudinally distributed lineages of Rhamdia quelen, which could explain local adaptations and the speciation processes proposed in previous studies. Moreover, the differentiation of transposable elements between lineages could also be associated with this speciation process.
Néstor Ríos, Belén G. Pardo, Carlos Fernández, José Antonio Alvarez‐Dios, Paulino Martínez, Carmen Bouza, Graciela García   +6 more
wiley   +1 more source