Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1388
Abstract: Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. read more here.
Keywords: gabaa receptor; receptor subunit; variants gabaa; identified patients ... See more keywords
Identification and expression of a unique neonatal variant of the GABAA receptor α3 subunit
Sign Up to like & getrecommendations! Published in 2017 at "Brain Structure and Function"
DOI: 10.1007/s00429-017-1597-6
Abstract: The GABAA receptor provides the majority of inhibitory neurotransmission in the adult central nervous system but in immature brain is responsible for much of the excitatory drive, a requirement for normal brain development. It is… read more here.
Keywords: receptor; gabaa receptor; brain; receptor subunit ... See more keywords
Heterozygous GABAA receptor β3 subunit N110D knock‐in mice have epileptic spasms
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17470
Abstract: Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock‐in mouse with the human infantile spasms‐associated de novo mutation GABRB3 (c.A328G, p.N110D) to investigate its molecular… read more here.
Keywords: receptor subunit; gabaa receptor; knock; infantile spasms ... See more keywords
High Expression of Interleukin-2 Receptor Subunit Gamma Reveals Poor Prognosis in Human Gastric Cancer
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DOI: 10.1155/2021/6670834
Abstract: Precision medicine for gastric cancer (GC) is still an unsolved issue, because most available target drugs are not specifically designed for GC. Exploring novel signaling molecules with target value for GC is in urgent need.… read more here.
Keywords: subunit gamma; receptor subunit; gastric cancer; expression ... See more keywords
Vulnerabilities in a Dominant Receptor Subunit
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DOI: 10.1177/1535759720904359
Abstract: AMPA Receptor GluA2 Subunit Defects Are a Cause of Neurodevelopmental Disorders Salpietro V, Dixon CL, Guo H, et al. Nat Commun. 2019;10:3094. doi:10.1038/s41467-019-10910-w 4-amino-3-hydroxy-5-methyl-4isoxazolepropionic acid (AMPA) receptors (AMPARs) are tetrameric ligand–gated channels made up of… read more here.
Keywords: vulnerabilities dominant; receptor subunit; dominant receptor; receptor ... See more keywords
GABAA Receptor Subunit Transcriptional Regulation, Expression Organization, and Mediated Calmodulin Signaling in Prefrontal Cortex of Rats Showing Testosterone-Mediated Impulsive Behavior
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2020.600099
Abstract: Testosterone can induce impulsivity, a behavioral impairment associated with various psychiatric illnesses. The molecular mechanisms associated with testosterone-induced impulsivity are unclear. Our earlier studies showed that supraphysiological doses of testosterone to rats induced impulsive behavior,… read more here.
Keywords: gabaa receptor; impulsive behavior; receptor subunit; testosterone ... See more keywords
PGC-1α Signaling Increases GABA(A) Receptor Subunit α2 Expression, GABAergic Neurotransmission and Anxiety-Like Behavior in Mice
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2021.588230
Abstract: Peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α) is a master regulator of mitochondria biogenesis and cell stress playing a role in metabolic and degenerative diseases. In the brain PGC-1α expression has been localized mainly to GABAergic interneurons… read more here.
Keywords: receptor subunit; anxiety like; expression; pgc ... See more keywords
Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype
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DOI: 10.3390/ijms23179683
Abstract: Mutations in GABAA receptor subunit genes (GABRs) are a major etiology for developmental and epileptic encephalopathies (DEEs). This article reports a case of a genetic abnormality in GABRG2 and updates the pathophysiology and treatment development… read more here.
Keywords: treatment; phenotype; receptor subunit; gabaa receptor ... See more keywords
Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome: A multicenter retrospective study
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Gastroenterology"
DOI: 10.3748/wjg.v28.i21.2334
Abstract: BACKGROUND Single-nucleotide polymorphisms (SNPs) of the serotonin type 3 receptor subunit (HTR3) genes have been associated with psychosomatic symptoms, but it is not clear whether these associations exist in irritable bowel syndrome (IBS). AIM To… read more here.
Keywords: receptor subunit; psychosomatic symptoms; irritable bowel; serotonin type ... See more keywords