Results 141 to 150 of about 113,519 (282)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Establishment and multifaceted characterization of a graded spinal cord injury model based on graduated impact depth

Animal Models and Experimental Medicine, EarlyView.
We established a graded spinal cord injury (SCI) model based on graduated impact depth, which was subsequently characterized across multiple dimensions, including locomotor function, imaging, histology, and transcriptomic profiles. We further identified transcriptomic changes in graded SCI at different time points postinjury and investigated the ...
Gang Zhou, Yue Hu, Zhimin Li, Shiyuan Han, Yuejia Li, Yongning Li, Jun Gao   +6 more
wiley   +1 more source

Myelitis‐Predominant Aggressive Phenotype: Unveiling Unique Patterns of Late‐Onset Neuromyelitis Optica Spectrum Disorders

Annals of Neurology, EarlyView.
Objective The objective of this study was to compare clinical features and prognosis of late‐onset neuromyelitis optica spectrum disorder (LO‐NMOSD, onset age ≥60 years) with adult‐onset NMOSD (AO‐NMOSD, onset age 18–59 years), and to provide insights for individualized management in elderly patients.
Ya‐Lan Pu, Jin‐Zhou Feng, Hua‐Xing Meng, Hai‐Bing Xiao, Xiao‐Ling Li, Jin Zhen, Wen‐Ying Lu, Xu‐Ming Xi, Ti Wu, Bao‐Shi Yuan, Mo‐Li Fan, Chao Zhang, De‐Cai Tian, Xia Meng, Fu‐Dong Shi, Tian Song   +15 more
wiley   +1 more source

CSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery

Annals of Neurology, EarlyView.
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo, Claudia Papi, Chiara Milano, Esther Aguilar, Estibaliz Maudes, Ivana Duvnjak Orešković, Jerko Štambuk, Maja Pučić‐Baković, Gemma Olivé‐Cirera, Elianet Fonseca, Mar Guasp, Eugenia Martinez‐Hernandez, Helena Ariño, Takahiro Iizuka, Thais Armangué, Josep Dalmau, Marianna Spatola   +16 more
wiley   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Nanomaterial‐Mediated Near‐Infrared Photothermal Neuromodulation for Neurologic Disorders

Advanced NanoBiomed Research, EarlyView.
This review summarizes how near‐infrared light activates photothermal nanomaterials to enable noninvasive neuromodulation with high spatiotemporal precision. It elucidates the underlying mechanisms, explores targeted therapeutic applications for neurological disorders, discusses integration with optogenetics and biosensors, and addresses future ...
Ting‐Ting Zeng, Yu‐Ge Wang, Ya‐Bing Zhang, Yuan‐Xin Bai, Si‐Tong Lin, Ting‐Ting Zhu, Yan‐Bo Zhou, Wei‐Tong Pan, Pan‐Miao Liu, Jian‐Jun Yang   +9 more
wiley   +1 more source

A Cost‐Effective Hybrid Method For Homogeneous Matrix Coating in Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry Imaging Using Simultaneous Spin and Spray Deposition

Analysis &Sensing, EarlyView.
This study introduces an in‐house spin coater for matrix‐assisted laser desorption/ionization mass spectrometry imaging, providing homogeneous matrix deposition via simultaneous spray and spin. The approach yields reproducible signals and clear metabolite distributions in complex tissues.
Lanaia Ítala Louzeiro Maciel, Jussara Valente Roque, Almir Custodio Batista Junior, Gabriel Henry Morais Dufrayer, Naará da Silva Balbino, Keilah Valéria Naves Cavalcante, Marcos Divino Ferreira Junior, Andrea Rodrigues Chaves, Boniek Gontijo Vaz   +8 more
wiley   +1 more source

New opportunities for bioscaffold‐enabled spinal cord injury repair

BMEMat, EarlyView.
Schematic illustration of bioscaffolds for spinal cord injury repair. We summarize the effects of bioscaffold properties on SCI repair, highlight different types of bioscaffolds, various fabrication strategies, and in vivo transformations for the clinical development of SCI‐repairing bioscaffolds.
Xiaoqing Qi, Yicheng Fu, Zhaoliang Su, Li Li, Subrata Chakrabarti, Peng Li, Yilun Wu, Fang Liu, Teng Gao, Zhifeng Dong, Lei Liu, Pei Cao   +11 more
wiley   +1 more source

Neuronal differentiation and tissue engineering strategies for central neurous system injury repair

BMEMat, EarlyView.
This review outlines tissue engineering advances for central nervous system (CNS) injury treatment, focusing on three core components: seed cells, inductive factors, and scaffold materials, with evaluation of their respective strengths and limitations. Tissue engineering for CNS injury repair.
Zhuqing Xia, Jinghui Zhang, Na Ren, Shuping Wang, Congcong Zhang, Nik Ahmad Nizam Nik Malek, Wan Hairul Anuar Kamaruddin, Chao Liu, Chunhui Sun, Jingang Wang   +9 more
wiley   +1 more source