Results 251 to 260 of about 127,368 (296)

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

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

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pH-Sensitive Holographic Sensors

Analytical Chemistry, 2003
Holographic sensors for monitoring H+ (pH) have been fabricated from ionizable monomers incorporated into thin, polymeric, hydrogel films which were transformed into volume holograms using a diffusion method coupled with holographic recording, using a frequency doubled Nd:YAG laser (532 nm). Unlike other optical pH sensors, it is possible to tailor the
Alexander J, Marshall, Jeff, Blyth, Colin A B, Davidson, Christopher R, Lowe   +3 more
openaire   +2 more sources

A fluorescent peptoid pH‐sensor

Peptide Science, 2013
ABSTRACTPeptoids, N‐substituted glycine oligomers, can adopt stable three‐dimensional structures and have found diverse application as peptide surrogates and as nanomaterials. In this report, we have expanded peptoid function to include pH sensing by coupling pH‐induced peptoid conformational changes with fluorescence intensity changes.
Amelia A, Fuller, Courtney A, Holmes, Frederick J, Seidl   +2 more
openaire   +2 more sources

Sensors and regulators of intracellular pH

Nature Reviews Molecular Cell Biology, 2009
Protons dictate the charge and structure of macromolecules and are used as energy currency by eukaryotic cells. The unique function of individual organelles therefore depends on the establishment and stringent maintenance of a distinct pH. This, in turn, requires a means to sense the prevailing pH and to respond to deviations from the norm with ...
Joseph R, Casey, Sergio, Grinstein, John, Orlowski   +2 more
openaire   +2 more sources

Alkaline pH sensor molecules

Journal of Neuroscience Research, 2015
Animals can survive only within a narrow pH range. This requires continual monitoring of environmental and body‐fluid pH. Although a variety of acidic pH sensor molecules have been reported, alkaline pH sensor function is not well understood. This Review describes neuronal alkaline pH sensors, grouped according to whether they monitor extracellular or ...
Takashi, Murayama, Ichiro N, Maruyama
openaire   +2 more sources

Digital fluorescent pH sensors

Chemical Communications, 2009
We designed polymeric sensors that created a digital-type fluorescence response to pH variation in an aqueous solution.
Seiichi, Uchiyama, Yumi, Makino
openaire   +2 more sources

A differential ISFET pH sensor

2017 IEEE SENSORS, 2017
In this paper, we present a simple differential CMOS ISFET based pH sensor. The design uses two different sensing areas. The resulting sensor reduces complexity and power consumption making it suitable for implantable biomedical applications. The design is implemented in a standard 130nm process and the design constraints on sensitivity are explored ...
Mst Shamim Ara Shawkat, Nicole McFarlane
openaire   +1 more source

A Nanojunction pH Sensor within a Nanowire

Analytical Chemistry, 2022
pH sensors that are nanoscopic in all three dimensions are fabricated within a single gold nanowire. Fabrication involves the formation of a nanogap within the nanowire via electromigration, followed by electropolymerization of pH-responsive poly(aniline) (PANI) that fills the nanogap forming the nanojunction.
Nicholas P. Drago, Eric J. Choi, Jihoon Shin, Dong-Hwan Kim, Reginald M. Penner   +4 more
openaire   +2 more sources