Results 181 to 190 of about 343,838 (345)

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

Clinical Genetics, EarlyView.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise, Benkirane‐Jessel Nadia, Anton Nicolas, Vandamme Thierry, Clauss François, Conzatti Guillaume   +5 more
wiley   +1 more source

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

Int J Mol Sci
Wilton-Clark H, Rodriguez SH, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophies Classification and Therapies. [PDF]

J Clin Med, 2023
Bouchard C, Tremblay JP.
europepmc   +1 more source

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

Clinical Genetics, EarlyView.
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

Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies

Muscle and Nerve, 2017
Rylie M. Hightower, M. S. Alexander
semanticscholar   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

Neurology, 2016
M. Savarese, G. Di Fruscio, A. Torella, C. Fiorillo, F. Magri, M. Fanin, L. Ruggiero, G. Ricci, G. Astrea, L. Passamano, A. Ruggieri, D. Ronchi, G. Tasca, A. D’Amico, S. Janssens, O. Farina, M. Mutarelli, V. Marwah, Arcomaria Garofalo, T. Giugliano, S. Sanpaolo, F. Del Vecchio Blanco, G. Esposito, G. Piluso, P. D’ambrosio, R. Petillo, O. Musumeci, C. Rodolico, S. Messina, A. Evilä, P. Hackman, M. Filosto, G. Di Iorio, G. Siciliano, M. Mora, L. Maggi, C. Minetti, S. Sacconi, L. Santoro, K. Claes, L. Vercelli, T. Mongini, E. Ricci, F. Gualandi, R. Tupler, Jan L. De Bleecker, B. Udd, A. Toscano, M. Moggio, E. Pegoraro, E. Bertini, E. Mercuri, C. Angelini, F. Santorelli, L. Politano, C. Bruno, G. Comi, V. Nigro   +57 more
semanticscholar   +1 more source

Sleep Disordered Breathing and Its Predictors in Pediatric Muscular Dystrophies. [PDF]

J Clin Med
Abu Zahra M, Arens R, Essibayi MA, Patel N.   +3 more
europepmc   +1 more source

Collagen Type VI Alpha 1 as a Regulator of Redox Homeostasis in Antioxidant‐Enhanced Osteogenesis of Dental Stem Cells

Cell Proliferation, EarlyView.
Under physiological conditions, NAC activates the PI3K‐AKT‐COL6A1 axis to sustain redox balance and enhance osteogenesis. COL6A1 deficiency, however, compromises this axis, inducing oxidative stress and impairing NAC's osteogenic efficacy. ABSTRACT Alveolar bone injury represents a prevalent clinical challenge in dentistry, for which stem cell‐based ...
Zhaosong Meng, Jiacheng Liu, Yue Zhang, Ruimeng Yang, Jingyi Zhang, Haosun Yang, Zheng Wang, Ran Wei, Zhe Li, Shuling Guo, Lizhi Hu, Lei Sui   +11 more
wiley   +1 more source