Results 81 to 90 of about 344,430 (215)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +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

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

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +15 more
wiley   +1 more source

Thermo‐Fluorescent Bactericidal Quantum Dots Based Smart Multifunctional Textiles via Molecular Surface Engineering and 3D‐Printed Interlocked Architectures

Advanced Healthcare Materials, EarlyView.
A versatile approach is presented for fabricating smart multifunctional textiles by integrating thermo‐fluorescent carbon dot/polymer nanocomposite coatings with 3D‐printed interlocked architectures. The fabrics exhibit temperature‐responsive fluorescence, durable hydrophobicity, strong antibacterial and antioxidant activity, and enhanced UV protection.
Poushali Das, Sayan Ganguly, Parham Khoshbakht Marvi, Misha Muthalali, Fatemeh Parniani, Shiza Hassan, Xiaowu (Shirley) Tang, Seshasai Srinivasan, Amin Reza Rajabzadeh   +8 more
wiley   +1 more source

3D Soft Hydrogels Induce Human Mesenchymal Stem Cells “Deep” Quiescence

Advanced Healthcare Materials, EarlyView.
Three‐dimensional soft hydrogels mimicking the bone marrow niche induce deep quiescence in human mesenchymal stem cells. Unlike 2D culture, 3D matrices halt proliferation, regulate cell‐cycle and quiescence markers, and downregulate mTORC1 signaling, preserving stem cell phenotype and therapeutic potential ex vivo.
David Boaventura Gomes, Timo Rademakers, Ana Filipa Henriques Lourenço, Andrea Calore, Clarissa Tomasina, Denis van Beurden, Jinjie Venema, Bryan Chömpff, Hong Liu, Nicole Bouvy, Sandra Camarero‐Espinosa, Lorenzo Moroni   +11 more
wiley   +1 more source

Cell Cycle Control of Nuclear Metabolism Couples Phosphatidylinositol Signaling to Histone Methylation

Advanced Science, EarlyView.
Nuclear metabolism oscillates during cell cycle progression. Quantitative chromatome proteomics and imaging reveal phase‐specific dynamics of PIP5K1A and nuclear PIP2, linking phosphatidylinositol metabolism to histone methylation. This work identifies nuclear lipid metabolism as a previously unrecognized regulatory axis coordinating chromatin ...
Antoni Gañez‐Zapater, Savvas Kourtis, Camilla Reiter Elbæk, Lorena Espinar, Carolina Toro‐Márquez, Albert Coll‐Manzano, Alfredo Smiriglia, Laura García‐López, Laura Wiegand, Maria Guirola, Frédéric Fontaine, Andrea Morandi, André C. Müller, Sara Sdelci   +13 more
wiley   +1 more source

Interactions of Antibody Drug Conjugate Anti‐Tubulin and Topoisomerase I Inhibitor Payloads with Radiotherapy to Potentiate Immunotherapy

Advanced Science, EarlyView.
Antibody drug conjugates deliver their cytotoxic anti‐tubulin or topoisomerase I inhibitor payloads to tumors through cancer cell receptor targeting. The released drug payloads induce cellular changes that interact with radiotherapy resulting in radiosensitization that improves cancer cell kill and stimulates anti‐tumor immune responses.
Jacqueline Lesperance, Bryan S. Yung, Michael M. Allevato, Marcus M Cheng, Maria F. Camargo, Robert Saddawi‐Konefka, Kanika Dhawan, Ashwyn K. Sharma, Mahsa Mortaja, Sophie Bice, Daniel J. Scanderbeg, Diego Alvarado, Jyoti Mayadev, Ramez N. Eskander, Stephen R. Adams, Pippa F. Cosper, J. Silvio Gutkind, Sunil J. Advani   +17 more
wiley   +1 more source

Ovarian Matrisome Dynamics and αvβ3‐Mediated Regulation in Early Follicular Development

Advanced Science, EarlyView.
The matrisome undergoes dynamic remodeling during early follicular development. Integrin αvβ3 mediates matrisome signals, regulating primordial follicle activation/atresia and secondary follicle growth via Hippo/mTOR pathways, with conserved roles in human ovaries, offering therapeutic targets for ovarian disorders.
Tong Wu, Yanzhi Feng, Qingqing Zhu, Ting Jiang, Yueyue Gao, Kebing Nie, Xianan Tang, Ying Chen, Dianxing Hu, Xudan Yang, Shixuan Wang, Meng Wu, Jinjin Zhang   +12 more
wiley   +1 more source

Uncovering Proximity of Chromosome Territories using Classical Algebraic Statistics [PDF]

, 2014
Exchange type chromosome aberrations (ETCAs) are rearrangements of the genome that occur when chromosomes break and the resulting fragments rejoin with other fragments from other chromosomes.
Arsuaga, Javier, Heskia, Ido, Hosten, Serkan, Maskalevich, Tatsiana   +3 more
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