Results 181 to 190 of about 2,877,234 (303)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

R-loops as a trigger for intra- and extrachromosomal DNA amplification in cancer. [PDF]

Front Cell Dev Biol
Kovalenko TF, Abdurazakov A, Antipova NV, Shakhparonov MI, Pavlyukov MS.   +4 more
europepmc   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Complete mitochondrial genome of the Korean endemic earthworm <i>Amynthas righii</i> (Clitellata: Megascolecidae). [PDF]

Mitochondrial DNA B Resour
Koo J, Hong Y.
europepmc   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source

Complete genome of a cereulide-producing <i>Bacillus mobilis</i> strain. [PDF]

Microbiol Resour Announc
Frentzel H, Kelner-Burgos Y, Witt P, Borowiak M, Deneke C.   +4 more
europepmc   +1 more source

Viruses with Circular Single-Stranded DNA Genomes Are Everywhere!

Annual Review of Virology, 2017
L. Shulman, I. Davidson
semanticscholar   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

Complete genome sequence of <i>Halomonas</i> sp. strain KFRI-KJS25024, isolated from fermented shrimp source (saeu-jeotgal) in Gang-Gyeong, Korea. [PDF]

Microbiol Resour Announc
Lee M, Park Y, Yi S.
europepmc   +1 more source

Identification of an Intermediate in Hepatitis B Virus Covalently Closed Circular (CCC) DNA Formation and Sensitive and Selective CCC DNA Detection

Journal of Virology, 2017
Jun Luo, Xiuji Cui, Lu Gao, Jianming Hu
semanticscholar   +1 more source