Results 31 to 40 of about 1,033 (156)
Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022 By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari +4 more
wiley +1 more source
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report [PDF]
Journal of Medical Case Reports, 2014 Hereditary hyperekplexia is a neurological disorder characterized by excessive startle responses with violent jerking to noise or touch, stiffening of the trunk and limbs, clenching of the fists and attacks of a high-frequency trembling. Hyperekplexia has a heterogeneous genetic background with several identified causative genes and demonstrates both ...
Ferdinandyné Horváth, Emese +4 more
openaire +4 more sources
Epigenetic modifications in pancreas development, diabetes, and therapeutics
Medicinal Research Reviews, Volume 42, Issue 3, Page 1343-1371, May 2022., 2022 Abstract A recent International Diabetes Federation report suggests that more than 463 million people between 20 and 79 years have diabetes. Of the 20 million women affected by hyperglycemia during pregnancy, 84% have gestational diabetes. In addition, more than 1.1 million children or adolescents are affected by type 1 diabetes.
Suneesh Kaimala +4 more
wiley +1 more source
Advanced Science, Volume 9, Issue 10, April 5, 2022., 2022 Chromodomain Y‐like (CDYL) in peripheral sensory neurons is indispensable for pain sensation. Downregulation of peripheral CDYL decreases neuronal excitability and elevates pain threshold. One of the critical mechanisms is that loss of CDYL represses histone 3 lysine 27 trimethylation (H3K27me3) deposition at Kcnb1 intron region and facilitates its ...
Zhao‐Wei Sun +11 more
wiley +1 more source
CYP2A6 and GABRA2 Gene Polymorphisms are Associated With Dexmedetomidine Drug Response
Frontiers in Pharmacology, 2022 Background: Dexmedetomidine is a commonly used clinical sedative; however, the drug response varies among individuals. Thus, the purpose of this study was to explore the association between dexmedetomidine response and gene polymorphisms related to drug ...
Chao Fang +7 more
doaj +1 more source
PACSIN proteins in vivo: Roles in development and physiology
Acta Physiologica, Volume 234, Issue 3, March 2022., 2022 Abstract Protein kinase C and casein kinase substrate in neurons (PACSINs), or syndapins (synaptic dynamin‐associated proteins), are a family of proteins involved in the regulation of cell cytoskeleton, intracellular trafficking and signalling. Over the last twenty years, PACSINs have been mostly studied in the in vitro and ex vivo settings, and only ...
Vincent Dumont, Sanna Lehtonen
wiley +1 more source
Demographically-Based Evaluation of Genomic Regions under Selection in Domestic Dogs. [PDF]
PLoS Genetics, 2016 Controlling for background demographic effects is important for accurately identifying loci that have recently undergone positive selection. To date, the effects of demography have not yet been explicitly considered when identifying loci under selection ...
Adam H Freedman +29 more
doaj +1 more source
GLRA1 mutation and long-term follow-up of the first hyperekplexia family [PDF]
Neurology Genetics, 2018 Hyperekplexia (HPX) is a rare familial disorder characterized by an exaggerated startle reflex and stiffness at birth. In 1958, Boris P. Silfverskiold published a report on a Swedish family affected by “emotionally precipitated drop seizures.”1 This first description of HPX became seminal, but it would take 35 years before mutations in the glycine ...
Paucar, Martin +2 more
openaire +2 more sources
Frontiers in Molecular Neuroscience, 2021 Startle disease is a rare disorder associated with mutations in GLRA1 and GLRB, encoding glycine receptor (GlyR) α1 and β subunits, which enable fast synaptic inhibitory transmission in the spinal cord and brainstem.
Inken Piro +7 more
doaj +1 more source
, 2023 Movement Disorders Clinical Practice, Volume 10, Issue 5, Page 824-826, May 2023.
Sebastiano Giacomozzi +7 more
wiley +1 more source