Results 101 to 110 of about 18,552 (255)

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt   +192 more
wiley   +1 more source

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

Epilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi, Marina Trivisano, Mattia Mercier, Nicola Pietrafusa, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Nicola Specchio   +7 more
wiley   +1 more source

Genome‐wide identification of the bZIP transcription factor family in sainfoin (Onobrychis viciifolia Scop.) and expression profiles in response to aluminum stress

Grassland Research, EarlyView.
Sainfoin is an important forage legume with potential for cultivation in stressful environments, but its molecular response to aluminum toxicity remains unclear. This study identified 236 basic leucine zipper (bZIP) transcription factor genes in sainfoin and analyzed their evolutionary features and regulatory potential.
Peng Li, Hao Wen, Yiwei Bai, Jiachen Liu, Hui Wang, Yunwei Zhang   +5 more
wiley   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Impact of Molecular Alterations on Survival in Biliary Tract Cancers: A Retrospective Belgian Cohort Study

International Journal of Cancer, EarlyView.
ABSTRACT Biliary tract cancers (BTCs) are aggressive malignancies associated with a poor prognosis. Although molecular profiling is recommended to guide therapeutic decision‐making, real‐practice data on the prevalence and prognostic significance of genomic alterations in European BTC cohorts remain limited.
Jorine Arnouts, Léon C. van Kempen, Senada Koljenović, Helena Oliveres, Pieterjan Vanclooster, Hans Prenen, Caro De Weerdt, Siddharth Chhajlani, Geert Roeyen, Laure Sorber, Koen De Winne, Jonas Dahnoun, Greetje Vanhoutte, Timon Vandamme, Karen Zwaenepoel   +14 more
wiley   +1 more source

Cross species metabolic complementation of vitamin K2 biosynthesis determines emergent suppression of tomato Fusarium wilt

iMeta, EarlyView.
Multi‐omics approaches have revealed a cross‐species functional emergence phenomenon leading to emergent suppression of Fusarium wilt. We show that a three‑species consortium exhibits emergent suppression of Fusarium oxysporum f. sp. lycopersici (Fol) that is absent in single or pairwise cultures.
Lizhi Zhao, Yuhui Li, Jianning Zhao, Alexandre Jousset, Francisco Dini‐Andreote, Lu Tan, Xiujing Guan, Yan Xu, Zhong Wei   +8 more
wiley   +1 more source

Hsp90 Inhibition on the Western Blot: N‐Terminal Versus C‐Terminal Inhibitors in Breast Cancer

Medicinal Research Reviews, EarlyView.
ABSTRACT Heat shock protein 90 (Hsp90) is an established and clinically validated anticancer target. By regulating the folding and maturation of diverse client proteins, it is indirectly involved in carcinogenesis. Key breast cancer oncogenic drivers, including estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2, are ...
Jaka Dernovšek, Jernej Cingl, Urša Pečar Fonović, Tihomir Tomašič   +3 more
wiley   +1 more source

AI‐Driven Rational Design of Nanotherapeutics for Pancreatic Ductal Adenocarcinoma

Medicinal Research Reviews, EarlyView.
ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains a formidable malignancy characterized by late diagnosis, high recurrence rates, and pronounced chemoresistance. While nanoparticle‐based drug delivery systems (NDDS) offer theoretical advantages over conventional therapies, their clinical translation in PDAC has been severely limited.
Seohyun Choo, Kaeun Chae, Jueun Lee, Inseon Kim, Seunghun S. Lee   +4 more
wiley   +1 more source

Sodium Ions Affect GPR17 Conformational States and Functionality

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Sodium is an allosteric modulator of several class‐A GPCR regulating active versus inactive conformation state and may be a critical issue for the optimization of crystallization procedures. Herein, the role of Na+ in the regulation of GPR17 conformational states was studied through MD simulations of GPR17 wild‐type and mutated on two ...
Luca Palazzolo, Simona Daniele, Davide Bianchi, Lara Russo, Stefano Capaldi, Maria Letizia Trincavelli, Ivano Eberini   +6 more
wiley   +1 more source

Models and measures of codon usage bias

, 2013
Second term paper for my Biol L533 class (evolution of genes and genomes) with Mike Lynch, Winter term 2013. Bias in the usage of synonymous codons has been observed in all major taxa. Various mechanistic models have been proposed to explain this bias, some motivated by adaptive selection on features such as translational e ciency, and some motivated ...
openaire   +1 more source