Results 81 to 90 of about 54,888 (266)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Smectic phase in suspensions of gapped DNA duplexes

Nature Communications, 2016
DNA can be used as a tunable building block to create a variety of self-assembly-driven liquid crystals. Here, the authors report the stabilization of a smectic-A liquid crystal phase, where constituent molecules—two rigid dsDNA segments linked by a ...
Miroslaw Salamonczyk, Jing Zhang, Giuseppe Portale, Chenhui Zhu, Emmanuel Kentzinger, James T. Gleeson, Antal Jakli, Cristiano De Michele, Jan K. G. Dhont, Samuel Sprunt, Emmanuel Stiakakis   +10 more
doaj   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Constituent power in constitutional development and public communication: comparative aspects of constitutional change

Правоприменение
The subject. This article identifies the nature and origin of constituent power, reveals the communicative nature of constituent power, the need to engage citizens, experts, and civil society institutions in the process of democratic constitution-making,
I. A. Kravets
doaj   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Flexural Behavior of 3D‐Printed Porous Bouligand‐Structured Polymers: Influence of Pitch Angle and Porosity

Advanced Engineering Materials, EarlyView.
This study examines how helicoidal architectures with different porosities respond to bending. Adjusting layer angle and spacing in 3D‐printed polymers reveals clear tradeoffs between stiffness, strength, and energy absorption. Experiments and simulations highlight designs that distribute stress effectively, offering pathways for optimizing lightweight
Praveenkumar Subhash Patil, Edward D. McCarthy, Parvez Alam   +2 more
wiley   +1 more source

Electrochemical Behavior of Flame‐Sprayed Sc‐Doped AlCoCrFeMo High‐Entropy Alloy Coatings in 3.5% Sodium Chloride Solution

Advanced Engineering Materials, EarlyView.
Scandium (Sc)‐doped AlCoCrFeMo HEA coatings are fabricated via flame spraying with 0.1, 0.3, and 0.5 wt% Sc additions. Among these, the HEA‐Sc0.3 coating exhibits the highest corrosion resistance, indicated by a more positive corrosion potential and lower current density.
Pankaj Kumar, Akash Vyas, Mohammad Aatif Qazi, Nashit Jalal, Maria Ophelia Jarligo, Mostafa Yakout, Jing Liu, André McDonald   +7 more
wiley   +1 more source

Il presidenzialismo di Piero Calamandrei [PDF]

Democrazia e Diritti Sociali
The aim of this paper is to reconstruct the main features and historical-political reasons behind the presidentialism proposal advanced by Piero Calamandrei in the Constituent Assembly.
Giuliano Amato
doaj  

National assembly constituencies and county assembly wards

, 2020
Coverage ...
openaire   +1 more source

High‐Entropy Alloy Interlayers Toward Advanced Joining for High‐Performance Structural Applications: Current Progress and Emerging Challenges

Advanced Engineering Materials, EarlyView.
HEA interlayers offer a versatile route for joining high‐performance structural materials. Their compositional and structural design regulates interfacial reactions, suppresses brittle IMCs, and improves metallurgical bonding. Sandwich interlayers further integrate defect healing with precipitation strengthening, enabling improved strength–ductility ...
Lin Yuan, Jiafen Song, Jinglong Li, Jiangtao Xiong, Tao Yang   +4 more
wiley   +1 more source