Results 271 to 280 of about 1,024,717 (349)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

High-Purity Functional Corneal Endothelial Cells From Human Induced Pluripotent Stem Cells via a Novel Wash-Out Method. [PDF]

MedComm (2020)
Ye EA, Kim C, Jeon M, Yoon Y, Park J, Lee RH, Yu C, Chung HS, Kim JY, Myung D, Lee H.   +10 more
europepmc   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Robust generation of clinically applicable human pluripotent stem cells from peripheral blood by chemical reprogramming. [PDF]

Cell Discov
Fu X, Peng F, Cai R, Mao J, Liu T, Dong Y, Cheng R, Yang Z, Chen G, Li C, Mu R, Cheng L, Wang Y, Guan J, Deng H.   +14 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Pluripotent stem cells-based neural organoids for modelling human brain development and diseases. [PDF]

Cell Biosci
Tong L, Tian P, Wang R, Niu S, Wang R, Ye Y, Wu Y, Zhang W, Wang Y, Foggetti A, Chen D.   +10 more
europepmc   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Robust, scalable and xeno-free protocol for differentiating human induced pluripotent stem cells into functional macrophages. [PDF]

Front Immunol
De Homdedeu M, Escribá R, Rodríguez-González K, Querol S, Fernandez-Sojo J, Alvarez-Palomo B.   +5 more
europepmc   +1 more source

Review of articular cartilage repair techniques and their application in the horse

Equine Veterinary Journal, EarlyView.
Abstract Articular cartilage lesions represent a significant career‐limiting problem in athletic horses. A healthy articular cartilage surface is vital for optimal joint function, and defects can result in irreversible degenerative changes. Successful treatment of cartilage lesions remains a long‐standing challenge for orthopaedic surgeons, prompting ...
Charlotte K. Barton, Brad B. Nelson, Laurie R. Goodrich   +2 more
wiley   +1 more source

Predicting metabolic dysfunction-associated steatotic liver disease risk using patient-derived induced pluripotent stem cells. [PDF]

Stem Cells Transl Med
Qin Y, Chhetri P, Theusch E, Lim G, Teker SS, Kuang YL, Aziziraftar SK, Mehraban MH, Munoz-Howell A, Saxena V, Le Guillou D, Mattis AN, Maher JJ, Medina MW.   +13 more
europepmc   +1 more source