Results 111 to 120 of about 6,450 (234)

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Alteration of WWOX in human cancer, a clinical view [PDF]

Experimental Biology and Medicine, 2015
WWOX gene is located in FRA16D, the highly affected chromosomal fragile site. Its tumor suppressor activity has been proposed on a basis of numerous genomic alterations reported in chromosome 16q23.3–24.1 locus. WWOX is affected in many cancers, showing as high as 80% loss of heterozygosity in breast tumors.
Izabela, Baryła, Ewa, Styczeń-Binkowska, Andrzej K, Bednarek   +2 more
openaire   +2 more sources

WWOX somatic ablation in skeletal muscles alters glucose metabolism

Molecular Metabolism, 2019
Objective: WWOX, a well-established tumor suppressor, is frequently lost in cancer and plays important roles in DNA damage response and cellular metabolism.
Muhannad Abu-Remaileh, Monther Abu-Remaileh, Rania Akkawi, Ibrahim Knani, Shiran Udi, Micheal E. Pacold, Joseph Tam, Rami I. Aqeilan   +7 more
doaj   +1 more source

SUMOylation regulates LKB1 localization and its oncogenic activity in liver cancer [PDF]

, 2019
BACKGROUND: Even though liver kinase B1 (LKB1) is usually described as a tumor suppressor in a wide variety of tissues, it has been shown that LKB1 aberrant expression is associated with bad prognosis in Hepatocellular Carcinoma (HCC).
Díaz Moreno, Irene, Díaz Quintana, Antonio Jesús, García Rodríguez, JL, Serrano Macía, M., Zubiete Franco, I   +4 more
core   +1 more source

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

European Journal of Neurology, Volume 32, Issue 8, August 2025.
This cohort of 2563 patients is one of the largest published epilepsy genetic studies, achieved in a clinical routine setup. The anonymized clinical and genetic information are provided as a resource for future research. Detailed per‐syndrome and per‐gene analysis have been performed. ABSTRACT Background Epileptic disorders are a heterogeneous group of
Jean‐Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, Caroline Nava, Lionel Arnaud, Cyril Mignot, Dorothée Ville, Stéphane Auvin, Sandrine Tardieu, Kathy Larcher, Isabelle Gourfinkel‐An, Mathilde Canon, Vincent Navarro, Bénédicte Héron, Sophie Julia, Diane Doummar, Marie‐Line Jacquemont, Hélène Maurey, Blandine Dozières‐Puyravel, Laurence Perrin, Laurent Pasquier, Christèle Dubourg, Sylvie Odent, Abdelhakim Bouazzaoui, Wilfrid Carre, Mélanie Fradin, Florence Demurger, Nicolas Chatron, Damien Sanlaville, Miriam Essid, Vincent des Portes, Eleni Panagiotakaki, Anne‐Lise Poulat, Clotilde Rivier, Catherine Sarret, Ganaëlle Remerand, Cecilia Altuzarra, Radka Stoeva, Sylvie Nguyen, Juliette Piard, Élise Boucher, Vincent Flurin, Anne‐Marie Guerrot, Sylvie Joriot, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Caroline Hachon‐Le Camus, Laurent Villard, Marie Faoucher, Mathieu Milh, Gaëtan Lesca, Éric Leguern   +52 more
wiley   +1 more source

Nuclear hyaluronidase 2 drives alternative splicing of CD44 pre-mRNA to determine profibrotic or antifibrotic cell phenotype [PDF]

, 2017
The cell surface protein CD44 is involved in diverse physiological processes, and its aberrant function is linked to various pathologies such as cancer, immune dysregulation, and fibrosis.
Hascall, Vincent, Meran, Soma, Midgley, Adam C., Oltean, Sebastian, Phillips, Aled O., Steadman, Robert, Woods, Emma L.   +6 more
core   +2 more sources

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, Volume 66, Issue 8, Page 2966-2979, August 2025.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Modeling WWOX Loss of Function in vivo: What Have We Learned?

Frontiers in Oncology, 2018
The WW domain–containing oxidoreductase (WWOX) gene encompasses a common fragile sites (CFS) known as FRA16D, and is implicated in cancer. WWOX encodes a 46kDa adaptor protein, which contains two N-terminal WW–domains and a catalytic domain at its C ...
Mayur Tanna, Rami I. Aqeilan, Rami I. Aqeilan   +2 more
doaj   +1 more source

Genome‐wide association of tau neuroimaging and plasma biomarkers in adults with Down syndrome

Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.
Abstract INTRODUCTION Plasma biomarkers in Down syndrome (DS) accurately detect Alzheimer's disease (AD) pathology. This study aimed to identify genetic loci associated with plasma tau biomarkers (phosphorylated tau [p‐tau]181, p‐tau217, total tau [t‐tau]) and tau positron emission tomography (PET) in DS. METHODS We examined 375 people with DS from the
Kang‐Hsien Fan, Ruyu Shi, Asma Naseer Cheema, Lam‐Ha T. Dang, Laura Xicota, Sharon Krinsky‐McHale, M. Muaaz Aslam, Narges Zafari, Vibha Acharya, Eleanor Feingold, Charles M. Laymon, Ann Cohen, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark E. Mapstone, Alzheimer's Biomarker Consortium – Down Syndrome (ABC‐DS), Carlos Cruchaga, Joseph H. Lee, M. Ilyas Kamboh   +19 more
wiley   +1 more source

Differential miRNA expression profiling reveals miR-205-3p to be a potential radiosensitizer for low- dose ionizing radiation in DLD-1 cells [PDF]

, 2018
Indexación: Scopus.Departamento de Oncología Básico-Clínica, Facultad de Medicina, Universidad de Chile, Santiago, Chile 2Comisión Chilena de Energía Nuclear, Santiago, Chile 3Center for Research and Applications in Plasma Physics and Pulsed Power, P4 ...
Andaur, R., Armisen, R., Marcelain, K., Moreno, J., Soto, L., Tapia, J.C.   +5 more
core   +1 more source