Results 171 to 180 of about 9,097,628 (294)

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

XPO1 coordinates human cytomegalovirus maturation by modulating genome encapsidation and secondary envelopment. [PDF]

Cell Insight
Wu JP, Zhou YP, Mei MJ, Pan YT, Sun JY, Zeng WB, Cheng H, Luo MH, Yang B.   +8 more
europepmc   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Integrin β3 α2,6-sialylation by the sialyltransferase ST6Gal1 promotes human cytomegalovirus entry into fibroblasts. [PDF]

Virulence
Pan T, Wang H, Guo L, Tang G, Zheng L.
europepmc   +1 more source

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source

Development of ganciclovir as an anti-human cytomegalovirus drug: historical perspectives and future prospects. [PDF]

J Gen Virol
Garcia Del Valle N, Strang BL.
europepmc   +1 more source

AR: An Artificial Intelligence‐Driven Fluorescent Reporter System for Gene Editing Evaluation

Animal Research and One Health, EarlyView.
The AR platform integrates an enhanced dual‐fluorescence reporter with the EasyReporter AI pipeline for efficient gene‐editing evaluation. It enables automated, high‐throughput quantification and intelligent interpretation across diverse gene‐editing systems and cellular contexts. The gene‐editing elements were created with BioGDP.com.
Mingming Xue, Hanhan Li, Yuwan Zheng, Hezhen Yang, Pengsheng Dong, Hang Jiao, Junhao Zhang, Genyuan Li, Ziyao Zhu, Hongjiang Li, Miao Zhang, Zhiquan Wang, Baosheng Feng, Qunting Lin, Guoying Hua, Kejun Wang, Wenting Li, Xiangtao Kang   +17 more
wiley   +1 more source

Genomic characterization of the attenuated human cytomegalovirus strain TR-VAC developed for subviral particle vaccine production. [PDF]

Microbiol Resour Announc
Schmidt H, Hewel C, Büscher N, Linke M, Plachter B.   +4 more
europepmc   +1 more source

T cells, the Next Big Target in Axial Spondyloarthritis?

Arthritis &Rheumatology, EarlyView.
Axial spondyloarthritis (axSpA) is a chronic inflammatory disease characterized by complex immune dysregulation, with T cells playing a central role in its pathogenesis. In this review, we synthesize current knowledge on diverse T cell subsets in axSpA, their pathogenic mechanisms, and emerging therapeutic strategies targeting these cells. We highlight
Mansi K. Aparnathi, Nigil Haroon
wiley   +1 more source

Human cytomegalovirus exploits host chromatin remodeler MORC2 to promote the DNA damage response on viral genomes. [PDF]

PLoS Pathog
Jeong J, Jeong D, Lee S, Park J, Kim H, Ahn K.   +5 more
europepmc   +1 more source