Results 141 to 150 of about 179,215,740 (302)

Loss of LCN2 Function Ameliorates Glucocorticoid‐Induced Muscle Atrophy via Remodeling the Extracellular Matrix

Advanced Science, EarlyView.
Glucocorticoids transcriptionally activate LCN2 expression via GR nuclear translocation. Secreted LCN2 binds MMP9 to degrade skeletal muscle ECM collagen, blocks integrin‐mediated mechanotransduction, bidirectionally disrupts muscle protein homeostasis, and reveals a novel target for steroid‐induced muscle atrophy.
Hongwei Shi, Xiaojing Hao, Yi Yan, Fengyang Li, Yaru Zhang, Zixin Li, Wenjuan Xie, Jiayin Lu, Xiaomao Luo, Yanjun Dong, Haidong Wang, Juan Wang   +11 more
wiley   +1 more source

Assessment of musculoskeletal system in women with jumping mechanography

, 2009
Yannis Dionyssiotis1,2, Antonios Galanos1, Georgios Michas1, Georgios Trovas1, Georgios P Lyritis11Laboratory for Research of the Musculoskeletal System, University of Athens, KAT Hospital, Kifissia, Greece; 2Rehabilitation Department, Rhodes General ...
Georgios Michas, Antonios Galanos, et al, Yannis Dionyssiotis   +3 more
core  

An Interpretable, Data‐Driven, Hierarchical Multi‐Domain Fusion Framework for Classification and Motor Function Scoring in Chronic Ankle Instability

Advanced Science, EarlyView.
An AI‐enabled digital twin framework integrates wearable EMG sensing with hierarchical multi‐domain fusion to classify chronic ankle instability, distinguish clinically relevant subtypes, and generate continuous motor function scores. Clinically interpretable functional stratification and SHAP‐based biomarker analysis provide transparent decision ...
Tianle Jie, Datao Xu, Zhifeng Zhou, Bas Van Hooren, Huiyu Zhou, Yi Yuan, Xiangli Gao, Monèm Jemni, Liangliang Xiang, Meizi Wang, Justin Fernandez, Tibor J. Goda, Yaodong Gu   +12 more
wiley   +1 more source

Reversing Macrophage Immunometabolic Dysfunction in Prolonged Infections Via a Glutaminolysis‐Fueled Restoration‐Based Hierarchically Selective Therapeutic System

Advanced Science, EarlyView.
A hierarchically selective immunotherapeutic nanoplatform, mGls@HEV‐MTP, selectively restores macrophage immunocompetence through GLS1‐mediated restoration of glutaminolysis‐fueled anaplerosis. Concurrently, it renders Staphylococcus aureus (S. aureus) more readily recognizable to the metabolically reprogrammed macrophages, thereby facilitating ...
Weinan Yang, Zihao An, Honglu Cai, Congsun Li, Jiaxuan Zou, Wushi Cui, Wentao Chen, Tao Zhang, Shicheng Wang, Zizhan Su, Jian Xiao, Tao Sun, Bin Hu, Min Cheng, Zhongru Gou, Jianbin Xu, An Liu, Haobo Wu   +17 more
wiley   +1 more source

Evaluation and Ranking for Scientific, Transparent and Applicable of Chinese Geriatrics Guidelines and Consensus Published in 2023

AGING MEDICINE, EarlyView.
Evaluation of geriatric guidelines and consensus in 2023 using the STAR tool shows improved scientificity and transparency compared to 2022, though protocol development, funding, and clinical issues need refinement. Collaborative efforts among developers, journals, and experts are key to further elevating quality. ABSTRACT Objectives This study aims to
Daiping Li, Chao Gao, Xiaoli Huang, Ling Kang, Birong Dong, Jirong Yue, the Specialized Committee for Geriatric Medicine of the STAR, Daiping Li, Chao Gao, Xiaoli Huang, Ling Kang, Birong Dong, Jirong Yue   +12 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source