Results 151 to 160 of about 603,390 (338)

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Altered CELF4 splicing factor enhances pancreatic neuroendocrine tumors aggressiveness influencing mTOR and everolimus response

Molecular Therapy: Nucleic Acids
Pancreatic neuroendocrine tumors (PanNETs) comprise a heterogeneous group of tumors with growing incidence. Recent molecular analyses provided a precise picture of their genomic and epigenomic landscape. Splicing dysregulation is increasingly regarded as
Emilia Alors-Pérez, Sergio Pedraza-Arevalo, Ricardo Blázquez-Encinas, Víctor García-Vioque, Antonio Agraz-Doblas, Elena M. Yubero-Serrano, Marina E. Sánchez-Frías, Raquel Serrano-Blanch, María Ángeles Gálvez-Moreno, Francisco Gracia-Navarro, Manuel D. Gahete, Álvaro Arjona-Sánchez, Raúl M. Luque, Alejandro Ibáñez-Costa, Justo P. Castaño   +14 more
doaj   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Repurposing alternative splicing events as potential targets for the design of diagnostic and therapeutic tools in PCa

Frontiers in Oncology
Alternative splicing is a key mechanism responsible for protein diversity in eukaryotes. Even when the relevance of this process was initially overlooked, it is now clear that splicing decisions have a strong impact on the physiology of organisms ...
Nancy Martínez-Montiel, José de Jesús Vite-Arciniega, Nora Hilda Rosas-Murrieta, Rebeca D. Martínez-Contreras   +3 more
doaj   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Supplementary report on resistances of connectors used in cable splices of NBS report 4369

, 1956
F C Breckenridge, Randall Crouch, R T Vaughan   +2 more
openalex   +1 more source

Consolidate Overview of Ribonucleic Acid Molecular Dynamics: From Molecular Movements to Material Innovations

Advanced Engineering Materials, EarlyView.
Molecular dynamics simulations are advancing the study of ribonucleic acid (RNA) and RNA‐conjugated molecules. These developments include improvements in force fields, long‐timescale dynamics, and coarse‐grained models, addressing limitations and refining methods.
Kanchan Yadav, Iksoo Jang, Jong Bum Lee
wiley   +1 more source

Splices in Plastically Designed Continuous Structures

, 1965
Willard H. Hart, W.A. Milek
openalex   +2 more sources

In Vitro Splicing of Kappa Immunoglobulin Precursor mRNA [PDF]

, 1987
David E. Lowery, Brian G. Van Ness
openalex   +1 more source

Towards High‐Acuity Vision Restoration: Hybrid Retinal Prosthesis Composed of a High‐Density Multielectrode Array Integrated With Glutamatergic Cells

Advanced Functional Materials, EarlyView.
This work introduces a novel Hybrid Retinal Implant (HRI), composed of a high‐density electrode array integrated with glutamatergic neurons to overcome key limitations of current retinal prostheses. The significant reduction of activation threshold and of electrode cross‐talk yields in an improved spatial resolution.
Nairouz Farah, Amos Markus, Gal Shpun, Yoav Chemla, Erel Lasnoy, Tamar Azrad‐Leibovitch, Fikre Fentahon, Zeev Zalvesky, Yossi Mandel   +8 more
wiley   +1 more source