Results 191 to 200 of about 2,206,670 (309)

DNA Hypermethylation of the ZNF382 Promoter Region and Low mRNA Expression of ZNF382 Promote Diffuse Large B-Cell Lymphoma Occurrence and Progression. [PDF]

Cancer Rep (Hoboken)
An W, Guo S, Liu S, Xiao P, Mi E, Wang H.   +5 more
europepmc   +1 more source

Decreased hepcidin mRNA expression in thalassemic mice [PDF]

British Journal of Haematology, 2003
Konstantin, Adamsky, Orly, Weizer, Ninette, Amariglio, Laura, Breda, Alon, Harmelin, Stefano, Rivella, Eliezer, Rachmilewitz, Gideon, Rechavi   +7 more
openaire   +2 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

<i>PICALM</i> Genetic Variant Alters mRNA Expression Without Affecting Protein Levels or Tau Spreading in Alzheimer's Disease. [PDF]

Cells
Ando K, Lopez-Gutierrez L, Mansour S, Yilmaz Z, Dauphinot L, Verheijen J, Fontaine G, Quintanilla-Sánchez C, Aydin E, Doeraene E, Nagaraj S, Kosa AC, Watanabe T, Sleegers K, Potier MC, Brion JP, Leroy K.   +16 more
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

LncRNA and mRNA expression characteristic and bioinformatic analysis in anemic diabetic foot ulcers. [PDF]

Front Genet
Lin J, Wang J, Liang B.
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Analysis of the rs3807135, rs3757385 and rs3778754 Variants of the <i>IRF5</i> Gene and mRNA Expression in Patients with Melanoma Cancer from Western Mexico. [PDF]

Genes (Basel)
Tapia-Leyva CA, Valdez-Salazar F, Jiménez-Del Río LA, Padilla-Gutiérrez JR, Muñoz-Valle JF, Valdés-Alvarado E.   +5 more
europepmc   +1 more source

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

HER2 Protein Overexpression, mRNA Expression, and DNA Amplification Across Solid Tumors: Comparison of Next-Generation Sequencing-Based Assays With Immunohistochemistry. [PDF]

JCO Precis Oncol
Nagamine M, Fujisawa T, Sakamoto N, Nakamura Y, Kadowaki S, Ueno M, Boku S, Komatsu Y, Oki E, Makiyama A, Nonomura N, Morizane C, Watari H, Okano S, Iwata H, Namikawa K, Hatanaka Y, Hatanaka KC, Taguchi K, Spetzler D, Radovich M, Magee D, Yoshino T, Oberley M, Kuwata T.   +24 more
europepmc   +1 more source