Results 151 to 160 of about 122,453 (313)

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +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

A translational multimodal machine‐learning prototype predicting valproate response in epilepsy treatment

Epilepsia, EarlyView.
Abstract Objective Epilepsy affects ~1% of the global population and often requires lifelong antiseizure medication (ASM) therapy. Valproic acid (VPA) is a commonly prescribed first‐line ASM, yet only approximately half of patients achieve sustained seizure freedom. Treatment selection remains largely empirical.
Simeon Platte, Afsheen Kumar, Giorgia Guerini, Massimo Pandolfo, Denise Haslinger, Colin B. Josephson, Guillermo Delgado‐García, Navprabhjot Kaur, Michaela‐Pauline Lux, Heiko Stempfle, Chantal Depondt, Reetta Kälviäinen, Felix Rosenow, Sophie von Brauchitsch, Karl Martin Klein, Andreas G. Chiocchetti   +15 more
wiley   +1 more source

Meeting summary: ethical aspects of whole exome and whole genome sequencing studies (WES/WGS) in rare diseases, Tel Aviv, Israel, January 2013 [PDF]

, 2013
Luba Farberov, Avital Gilam, Ofer Isakov, Noam Shomron   +3 more
openalex   +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

Tumor diversity and evolution revealed through RADseq [PDF]

, 2017
Altshuler, Beal, Begum, Blaxter, Bos, Broaddus, Burdett, Butte, Caccamo, Cai, Caldas, Choy, Cresko, Cresko, Cuppen, da Silveira, De, DePristo, Durbin, Felsenstein, Gatenby, Getz, Goldberg, Greaves, Hoekstra, Hohenlohe, Hynes, Iacobuzio-Donahue, Johnson, Johnson, Katzen, Kawakami, Kernytsky, Kramer, Leder, Look, Lupski, Magi, Maley, Martincorena, Mesirov, Miller, Mullins, Nowak, Nowak, Nowak, Nowell, Parmigiani, Pawlik, Polyak, Polyak, Postlethwait, Pyeritz, Quake, Raible, Scholl, Schultz, Somers, Swanton, Townsend, Vogelstein, Weinberg, Weir, Westerfield, Yaeger, Zon, Zon   +66 more
core   +2 more sources