Results 211 to 220 of about 86,476 (288)

Expression pattern of resynthesized allotetraploid Capsella is determined by hybridization, not whole-genome duplication. [PDF]

New Phytol, 2023
Duan T, Sicard A, Glémin S, Lascoux M.
europepmc   +1 more source

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

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

Variation in nuclear genome size in a freshwater snail model system featuring a recent whole-genome duplication. [PDF]

R Soc Open Sci
Neiman M, Pichler M, Haase M, Lamatsch DK.   +3 more
europepmc   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

Resolving phylogenetic conflicts in Pandanales: the dual roles of gene flow and whole-genome duplication. [PDF]

Front Plant Sci
Shi T, He J.
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

Unveiling an ancient whole-genome duplication event in Stentor, the model unicellular eukaryotes. [PDF]

Sci China Life Sci
Zheng W, Li C, Zhou Z, Chen X, Lynch M, Yan Y.   +5 more
europepmc   +1 more source

CCL26‐Mediated Modulation of Endothelial Secretome by Hypoxia‐Induced Tumor‐Derived Exosomes Enhances Metastatic Progression in Head and Neck Cancer

Head &Neck, EarlyView.
ABSTRACT Background Tumor cells adapt to hypoxia by releasing hiTDExs enriched with bioactive molecules that modulate endothelial behavior and promote tumor progression. This study aimed to characterize how hypoxia‐induced HNSCC exosomes reshape the endothelial secretome and contribute to metastatic potential.
Ozel Capik, Sevil Tekman, Betul Gundogdu, Ahsen Kilic, Rumeysa Polat, Omer Aydin, Omer Faruk Karatas   +6 more
wiley   +1 more source

Investigating the Impact of Whole-Genome Duplication on Transposable Element Evolution in Teleost Fishes. [PDF]

Genome Biol Evol
Mallik R, Wcisel DJ, Near TJ, Yoder JA, Dornburg A.   +4 more
europepmc   +1 more source