Results 161 to 170 of about 162,600 (208)

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

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

Can mac-2 binding protein glycosylation isomer serve as a biomarker for predicting pulmonary arterial pressure and pulmonary hypertension in systemic sclerosis? [PDF]

Turk J Med Sci
Mercan R, Gökten DB, Kara SP, Üzüm NM, Güzel S.   +4 more
europepmc   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Probing Blood Plasma Protein Glycosylation with Infrared Spectroscopy. [PDF]

Anal Chem
Voronina L, Fleischmann F, Šimunović J, Ludwig C, Novokmet M, Žigman M.   +5 more
europepmc   +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

Protein glycosylation in lung cancer from a mass spectrometry perspective. [PDF]

Mass Spectrom Rev
Balbisi M, Sugár S, Turiák L.
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Protective effects of adiponectin receptor agonists against equine lamellar endoplasmic reticulum stress

Equine Veterinary Journal, EarlyView.
Abstract Background Lamellar endoplasmic reticulum (ER) stress occurs in hyperinsulinemia‐associated and sepsis‐related laminitis. Adiponectin is associated with reduced laminitis risk and inhibits ER stress in other species. Objectives To induce ER stress in ex vivo equine lamellar cells using pharmacological agents.
Marine A. Barnabé, Jonathan Elliott, Nicola J. Menzies‐Gow, Simon R. Bailey, Nicholas J. Bamford, Yu‐Mei Chang, Matthew C. Gage   +6 more
wiley   +1 more source

Diagnostic Performance of Serum Mac-2-Binding Protein Glycosylation Isomer as a Fibrosis Biomarker in Non-Obese and Obese Patients with MASLD. [PDF]

Biomedicines
Ananchuensook P, Moonlisarn K, Boonkaew B, Bunchorntavakul C, Tangkijvanich P.   +4 more
europepmc   +1 more source