Results 131 to 140 of about 383,189 (303)

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

Proteomic analysis of Cupriavidus metallidurans CH34: a model for soil proteomic studies

, 2010
Proteomic analysis of Cupriavidus metallidurans CH34: a model for soil proteomic ...
Luca Bini, Paolo Nannipieri, Alessandra Modesti, Francesca Magherini, Loretta Landi, Giancarlo Renella, Laura Giagnoni, Daniel var der Lelie, Safiyh Taghavi   +8 more
core  

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Sequential extraction leading to improved proteomic analysis of the oleaginous yeast Lipomyces starkeyi

, 2011
Sequential extraction leading to improved proteomic analysis of the oleaginous yeast Lipomyces ...
叶明亮, 赵宗保, 刘宏伟, 赵鑫, 程凯   +4 more
core  

Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali, Priyanka Menon, Halil I. Corbali, Ram Jagannathan, Allan I. Levey   +4 more
wiley   +1 more source

Proteomics [PDF]

Nature Biotechnology, 2019
openaire   +2 more sources

GC-MS Combined with Proteomic Analysis of Volatile Compounds and Formation Mechanisms in Green Teas with Different Aroma Types

Foods
Aroma is one of the key factors for evaluating the quality of green tea. A tender aroma (NX) and floral-like aroma (HX) are two types of high-quality aroma of green tea.
Xiaojun Niu, Cun Ao, Jizhong Yu, Yun Zhao, Haitao Huang   +4 more
doaj   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source

Multi-omics profiling reveals peripheral blood biomarkers of multiple sclerosis: implications for diagnosis and stratification

Frontiers in Pharmacology
BackgroundMultiple sclerosis (MS), a chronic autoimmune disorder marked by demyelination in the central nervous system, is exceptionally uncommon in China, and remains poorly understood in terms of its peripheral blood manifestations.MethodsWe conducted ...
Qinming Zhou, Qinming Zhou, Qinming Zhou, Zuoquan Xie, Lu He, Lu He, Guangqiang Sun, Huanyu Meng, Huanyu Meng, Zhiyu Luo, Yuan Feng, Xingkun Chu, Liang Li, Jing Zhang, Yong Hao, Meiyu Geng, Meiyu Geng, Xiang Zhang, Xiang Zhang, Sheng Chen, Sheng Chen, Sheng Chen   +21 more
doaj   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source