Results 41 to 50 of about 21,194 (199)

Generation of a laminopathies-specific iPSC line EHTJUi005-A-3 with homozygous knockout of the LMNA gene by CRISPR/Cas9 technology

Stem Cell Research, 2021
LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope.
Ji-Zhen Lu, Zhi-Bin Qiao, Lu Zhang, Hong-Xia Cao, Zhi-Hui Bai, Yi-Yao Qi, Han-Yu Zhu, Ya-Qi Chen, Shou-Mei Zhang, Xiu-Hua Yan, Yan Bao, Wen-Wen Jia, Zhong-Min Liu   +12 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Congenital Muscular Dystrophy / Rigid Spine Syndrome

Pediatric Neurology Briefs, 2000
A detailed phenotypic description of 4 siblings (3 boys and 1 girl) with congenital muscular dystrophy and rigid spine syndrome is reported from the University of Utah, Salt Lake City, UT.
J Gordon Millichap
doaj   +1 more source

Electronic Devices and Digital Therapeutics in Neuromuscular Diseases: Narrative Review on Current Applications in Patients' Management and Pharmacovigilance

Health Care Science, EarlyView.
Digital innovations are revolutionizing neuromuscular disease management by integrating wearable sensors, mobile applications, and telemedicine to enable continuous monitoring and personalized care. These technologies enhance diagnosis, treatment, and drug development fostering dynamic interaction between patients and clinicians paving the way toward ...
Ilaria Saltarella, Concetta Altamura, Paola Laghetti, Giuseppina Settanni, Nicola Savino, Angelo Galiano, Bodvaël Fraysse, Angelo Vacca, Jean‐François Desaphy   +8 more
wiley   +1 more source

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Orphanet Journal of Rare Diseases, 2021
Background LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants.
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong   +29 more
doaj   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source