Results 11 to 20 of about 7,146 (119)

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 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

Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances

Mass Spectrometry Reviews, EarlyView.
Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, EarlyView.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

AllergoOncology in Review: Harnessing Allergy in the Field of Oncology to Improve Patient Outcomes

Clinical &Experimental Allergy, EarlyView.
ABSTRACT The AllergoOncology field brings together the study of allergic and cancer immune responses, having evolved from early epidemiological studies that reported inverse associations between allergies, IgE and cancer risk. Insights from studying allergic inflammation are revealing previously unappreciated immune mechanisms that confer protective ...
Jakub Zydron, Anishaa Balaji, Jitesh Chauhan, Jack Alder, Xinyi Chen, Anna M. F. Wiegman, Aurelie Poli, Joanna Jacków‐Malinowska, Jack Cheeseman, Daniel I. R. Spencer, James McDonnell, James Spicer, Alexandra J. McCraw, Sophia N. Karagiannis   +13 more
wiley   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Porphyromonas gingivalis GroEL accelerates abdominal aortic aneurysm formation by matrix metalloproteinase‐2 SUMOylation in vascular smooth muscle cells: A novel finding for the activation of MMP‐2

Molecular Oral Microbiology, EarlyView.
Abstract Infection is a known cause of abdominal aortic aneurysm (AAA), and matrix metalloproteases‐2 (MMP‐2) secreted by vascular smooth muscle cells (SMCs) plays a key role in the structural disruption of the middle layer of the arteries during AAA progression.
Yi‐Wen Lin, Feng‐Yen Lin, Ze‐Hao Lai, Chien‐Sung Tsai, Yi‐Ting Tsai, Yen‐Sung Huang, Chen‐Wei Liu   +6 more
wiley   +1 more source