Results 131 to 140 of about 2,357,602 (292)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Scanning Tunneling Spectroscopy of Bi2Sr2CuO6+d: New Evidence for the Common Origin of the Pseudogap and Superconductivity [PDF]

, 2001
Using scanning tunneling spectroscopy, we investigated the temperature dependence of the quasiparticle density of states of overdoped Bi2Sr2CuO6+δ between 275 mK and 82 K.
Ando, Y, Fischer, O, Kugler, M, Ono, S, Renner, C   +4 more
core  

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

Dynamics of sulfate and nitrate in a temperate stream network: combining multi-isotope analysis and generalized linear mixed-effects models for precautionary conservation

Progress in Earth and Planetary Science
Environmental pollution in stream networks is a major concern. In this study, the effects of land-use and geological characteristics on basin-scale sulfate and nitrate dynamics in the Chikusa River basin, Hyogo, Japan, where substantial environmental ...
Lei Fujiyoshi, Ichiro Tayasu, Shiho Yabusaki, Takashi F. Haraguchi, Chikage Yoshimizu, Ken’ichi Ohkushi, Fumiko Furukawa, Masayuki Itoh, Tadashi Yokoyama, Hiromune Mitsuhashi   +9 more
doaj   +1 more source

Applications of δ Continuous Function

Wasit Journal for Pure Sciences
This paper introduces a new class of functions, termed δ-continuous functions, and investigates their fundamental characterizations and properties. Particular attention is given to their connections with other well-known classes of functions in topology
Zahraa Mohsen, Ali Khalaf Hussain
doaj   +1 more source

Tumor promoter TPA activates Wnt/β-catenin signaling in a casein kinase 1-dependent manner. [PDF]

, 2018
The tumor promoter 12-O-tetra-decanoylphorbol-13-acetate (TPA) has been defined by its ability to promote tumorigenesis on carcinogen-initiated mouse skin.
Carson, Dennis A, Li, Shiyue, Liu, Shan-Shan, Lu, Desheng, Song, Jiaxing, Su, Zijie, Sun, Qi, Wang, Zhongyuan, Wei, Lei, Xia, Yuqing, Yu, Shubin, Zhao, Liang, Zhou, Liang   +12 more
core  

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

CeO2−δ as Electron Donor in Co0.07Ce0.93O2−δ Solid Solution Boosts Alkaline Water Splitting

Advanced Science
Optimizing the electronic structure with increasing intrinsic stability is a usual method to enhance the catalysts’ performance. Herein, a series of cerium dioxide (CeO2−δ) based solid solution materials is synthesized via substituting Ce atoms with ...
Gege Su, Yichao Hou, Jie Yin, Jiayi Yang, Zhenglong Li, Xin Du, Xin Zhang, Pinxian Xi, Chun‐Hua Yan   +8 more
doaj   +1 more source

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket, J. Lycke, J. Salzer, F. Piehl, K. Fink, N. Lange, J. Mellergård, C. Malmeström, P. Sundström, I. Erngren, A. al‐Grety, E. Freyhult, K. Kultima, J. Burman, A. Svenningsson   +14 more
wiley   +1 more source

Almost α-γ-Irresolute Functions

Journal of New Results in Science, 2014
functions called almost γ-irresolute functions and almost α-γirresolute functions in topological spaces. We obtain several characterizations of these classes and study their properties and investigate the relationships with the known non-continuous ...
openaire   +2 more sources