Results 31 to 40 of about 3,643 (133)

Identification of LAMA2 compound heterozygous variants: a case report

Translational Pediatrics
Laminin-α2 (LAMA2) chain-deficient muscular dystrophy (LAMA2-MD) is the most common congenital muscular dystrophy (CMD) in the world. Its main manifestations are muscle weakness and hypotonia that occur after birth or at early infancy.We reported a case of a 3-year-old and 6-month-old boy presented with delayed motor development, elevated creatine ...
Ying, Yingchao, Ye, Jia, Shen, Jue, Chen, Guojuan, Jiang, Kewen   +4 more
openaire   +2 more sources

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Proteolytic remodelling of the extracellular matrix by pericytes

The FEBS Journal, Volume 293, Issue 13, Page 3899-3953, July 2026.
Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard, Ella Milne, Kate Qian, Paola Campagnolo, Salvatore Santamaria   +4 more
wiley   +1 more source

Exercise Training Stimulates the Release of Glutathione Peroxidase 1 (GPX1)‐Enriched Extracellular Vesicles That Promote Angiogenesis

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
Exercise Training Stimulates the Release of Glutathione Peroxidase 1 (GPX1)‐Enriched Extracellular Vesicles that Promote Angiogenesis. The results from this study suggest that EVs isolated from blood immediately after the last bout of endurance exercise training (ExerV) are enriched in antioxidants. ExerVs stimulate vascular growth both in vitro and in 
Alexander M. Fliflet, Ray A. Spradlin, Yanqi Tan, Ane Nishitha Vijayan, Sung Jun Choi, Wei‐Chun Kao, Edita Aksamitiene, Michael Nelappana, Shengzhe Ding, Kai‐Yu Huang, Aryaman Joshi, Nurila Kambar, Tom Bludgen, Madeleine Meehan, Jayna L. Boss, Michael Knipp, Hongming Fan, Cecilia Leal, Roger A. Sunde, Lawrence W. Dobrucki, Stephen A. Boppart, Hyun Joon Kong, Jonathan V. Sweedler, Marni D. Boppart   +23 more
wiley   +1 more source

Comprehensive Integrated Single‐Cell and Spatial Transcriptomics Unveil the Dynamic Landscape of Betel Nut‐Associated Oral Mucosal Carcinogenesis and Its Tumor Microenvironment

MedComm, Volume 7, Issue 6, June 2026.
ABSTRACT Betel nut chewing is a major etiological factor for oral squamous cell carcinoma (OSCC), yet its mechanistic underpinnings remain poorly defined. Here, we performed single‐cell RNA sequencing and spatial transcriptomics from six OSCC patients to comprehensively dissect the tumor microenvironment (TME) dynamics and cellular heterogeneity ...
Wei Dong, Shuojin Huang, Yijun Wu, Congyuan Cao, Jiaxue Li, Qianting He, Anxun Wang   +6 more
wiley   +1 more source

Decoding Triphenotypic Neutrophils in Cervical Cancer Evolution and Targeting SPP1+/GBP1+/ELOVL5+ Tumor‐Associated Neutrophils to Sensitize Immunotherapy

Advanced Science, Volume 13, Issue 29, 22 May 2026.
The functional schematic diagram of tumor associated neutrophils. Abstract Enhancing cervical cancer (CC) immunotherapy requires deciphering the heterogeneous tumor immune microenvironment (TIME), particularly neutrophil phenotypic dynamics. Here, 1) we collected 543 CC cases to find that patients with elevated neutrophil levels have a higher incidence
Xingyu Chang, Xinyu Qu, Tingting Ren, Tong Wu, Weiyong Gu, Jingxin Ding, Keqin Hua, Junjun Qiu   +7 more
wiley   +1 more source

Decoding the Cardiac Immune Microenvironment and Fibroblast Crosstalk in Radiotherapy Combined with Immunotherapy‐Induced Cardiac Fibrosis Based on Single‐Cell Transcriptomic Analysis

Advanced Science, Volume 13, Issue 25, 4 May 2026.
This study highlights that radioimmunotherapy drives crosstalk between fibroblasts and immune cells (especially macrophages) in the cardiac microenvironment, with IL‐6 as the key mediator, and tocilizumab alleviates cardiac fibrosis by targeting this interplay.
Yuxi Luo, Ying Yu, Zhimin Zeng, Yanxin Chen, Yali Yi, Zhiqin Lu, Fujuan Zeng, Peng Xu, Daya Luo, Leifeng Chen, Anwen Liu   +10 more
wiley   +1 more source

How Lama2-deficiency impacts myoblast differentiation in a mouse model for LAMA2-congenital muscular dystrophy

, 2022
Tese de Mestrado, Biologia Evolutiva e do Desenvolvimento, 2022, Universidade de Lisboa, Faculdade de ...
openaire   +1 more source