Results 81 to 90 of about 36,256,275 (202)

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference [PDF]

, 2013
BackgroundTuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals.
Kwiatkowski, David J., Curatolo, Paolo, Berhouma, Moncef, Hebert, Adelaide, Thiele, Elizabeth, Holmes, Greg, Frost, Michael D., Chugani, Harry T., Wataya-Kaneda, Mari, Brody, Alan, Roberds, Steven, Zonneberg, Bernard, Young, Lisa R., Whittemore, Vicky, Wheless, James, Bartels, Ute, Dunn, David, Glass, Jennifer, Franz, David Neal, Teng, Joyce, Hook, Dena, Roth, Jonathan, O'Callaghan, Finbar, Burger, Charles, Cowen, Edward W., Jóźwiak, Sergiusz, Almoosa, Khalid, Koenig, Mary Kay, Kotloff, Robert, Mlynarczyk, Greg, Moss, Joel, Smith, Katie, Mowat, David, Nellist, Mark, Nabbout, Rima, Budde, Klemens, Sampson, Julian, Byars, Anna, Gosnell, Elizabeth, Smith, Karen, Da Silva, Angelo Taveira, Rhu, Jay, Ess, Kevin, Weiner, Howard, Bissler, John, Roach, E. Steve, Johnson, Simon, King, Bryan, Sahin, Mustafa, Povey, Sue, Knilans, Timothy, Northrup, Hope, Witman, Patricia M., Sauter, Matthias, Finlay, Geraldine, Hinton, Robert, Romp, Robb, Crino, Peter, Krueger, Darcy A., Soltani, Keyomaurs, Wang, Henry, Cottin, Vincent, de Vries, Petrus, Singh, Arun D., DebRoy, Ashish, Jansen, Anna, Chen, Pei-Lung, Henske, Elizabeth Petri, Sparagana, Steven, Hulbert, John, Guay-Woodford, Lisa, Lynch, David, Korf, Bruce, Darling, Thomas N., McCormack, Francis X., Kingswood, Chris, Wu, Joyce, Prakash, Ashwin, Bebin, E. Martina   +78 more
core   +1 more source

Nail Toxicities Associated With Anticancer Therapies in Children

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail toxicities are a frequent yet often underrecognized component of dermatologic adverse events in children receiving anticancer therapies. Both conventional cytotoxic chemotherapy and newer targeted agents can affect the nail matrix, nail bed and periungual tissues, producing a broad spectrum of clinical manifestations that range from ...
Luca Rapparini, Michela Starace
wiley   +1 more source

Diagnosis of Tuberous Sclerosis Complex

, 2004
Tuberous sclerosis complex is a dominantly inherited disorder affecting multiple organs; because of its phenotypic variability, the diagnosis of tuberous sclerosis complex can be difficult in the young or in individuals with subtle findings.
Steven P. Sparagana, E. Steve Roach
core   +1 more source

Mechanosensitive molecular networks involved in transducing resistance exercise-signals into muscle protein accretion

Frontiers in Physiology, 2016
Loss of skeletal muscle myofibrillar protein with disease and/or inactivity can severely deteriorate muscle strength and function. Strategies to counteract wasting of muscle myofibrillar protein are therefore desirable and invite for considerations on ...
Emil Rindom, Emil Rindom, Kristian Vissing   +2 more
doaj   +1 more source

XBP-1s (spliced form of x-box binding protein-1) proteininin TSC (tuberous sclerosis complex) eksikliğinde insülin hassasiyetinin düzenlenmesindeki rolü

, 2021
İnsülin hassasiyetinin azalması, yani insülin direnci, Türkiye'de ve dünyada insan sağlığını tehdit eden obezite ve tip 2 diyabet gibi birçok metabolik bozukluğun altında yatan en önemli nedenlerden biridir. Beyin, böbrek ve deri gibi çeşitli organlarda selim tümörlere neden olan, otozomal dominant kalıtımlı tuberoz sklerozis (TSC) hastalığında da
openaire   +1 more source

Analytical Approaches to Address Challenges in the Analysis of Cannabinoids in Vascular Matrices Using Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Phytocannabinoids are bioactive metabolites derived from the Cannabis sativa plant. They have garnered attention due to their recreational uses and therapeutic potential. Although various analytical strategies have been employed for their analysis, mass spectrometry (MS) coupled to chromatographic separation is superior due to its sensitivity ...
Radwa Mahmoud, Robert B. Laprairie, Anas El‐Aneed   +2 more
wiley   +1 more source

Distinct and common functions of mTORC1 and mTORC2 in Purkinje cells [PDF]

, 2015
In mammalian cells, the serine/threonine protein kinase mTOR (mammalian target of rapamycin) is present in two complexes, called mTORC1 and mTORC2. While several of the components are common to both complexes, raptor and rictor are only associated with ...
Angliker, Nico
core   +1 more source

GSK-3β at the Crossroads in Regulating Protein Synthesis and Lipid Deposition in Zebrafish

Cells, 2019
In this study, the mechanism by which GSK-3β regulates protein synthesis and lipid deposition was investigated in zebrafish (Danio rerio). The vector of pEGFP-N1-GSK-3β was constructed and injected into the muscle of zebrafish.
Yaqi Gu, Lili Gao, Qiang Han, Ao Li, Hairui Yu, Dongwu Liu, Qiuxiang Pang   +6 more
doaj   +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