Results 211 to 220 of about 405,469 (354)

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

Distinct Phage-Encoded Enzymes for Substitution of Deoxythymidine by Deoxyuridine in Phage Genomes. [PDF]

Adv Sci (Weinh)
Li Y, Tan J, Tu Y, Wu J, Zhang Z, Wei Y, Jiao X, Zhou Y.   +7 more
europepmc   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez, Corinne Pettigrew, Yuxin Zhu, Claire Anderson, Guray Erus, Christos Davatzikos, Michael Miller, Abhay Moghekar, Sungtaek Oh, Chan‐Hyun Na, Marilyn Albert, Paul Worley, Anja Soldan   +12 more
wiley   +1 more source

Maternal-Fetal Exposure to Oncoelements and Their Oxidative and Epigenetic Impact on Pregnancy Outcomes. [PDF]

Int J Mol Sci
Grzesik-Gąsior J, Bień A, Zalewska K, Nieszporek M, Witkowska K, Merklinger-Gruchała A.   +5 more
europepmc   +1 more source

Cleavage patterns of Drosophila melanogaster satellite DNA by restriction enzymes

, 1976
C.-K.James Shen, Gary Wiesehahn, John E. Hearst   +2 more
openalex   +2 more sources

Dephosphorylation of 5´-ends of DNA using rSAP in Restriction Enzyme Reaction (M0371) v4

, 2020
New England Biolabs
openalex   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

Automata for DNA Splicing Languages with Two Restriction Enzymes

, 2020
Nurul Izzaty, Wan Heng Fong, Haniza Sarmin, W Fong, Ismail, N Ni & Sarmin, T Head, T Head, N Ismail, Fong, N Wh & Sarmin, I Tomohiro, S Inenaga, M Takeda   +13 more
openalex   +2 more sources

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

The effect of DNA structure and restriction enzymes on transformation efficiencies in Neurospora crassa

, 1995
Kristina Garnand, Mary Anne Nelson
openalex   +2 more sources