FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2127976593> ?p ?o ?g. }

• W2127976593 endingPage "250" @default.
• W2127976593 startingPage "239" @default.
• W2127976593 abstract "Objective Febrile seizures (FS) are the most common seizure type in young children. Complex FS are a risk factor for mesial temporal lobe epilepsy (mTLE). To identify new FS susceptibility genes we used a forward genetic strategy in mice and subsequently analyzed candidate genes in humans. Methods We mapped a quantitative trait locus (QTL1) for hyperthermia-induced FS on mouse chromosome 1, containing the signal recognition particle 9 (Srp9) gene. Effects of differential Srp9 expression were assessed in vivo and in vitro. Hippocampal SRP9 expression and genetic association were analyzed in FS and mTLE patients. Results Srp9 was differentially expressed between parental strains C57BL/6J and A/J. Chromosome substitution strain 1 (CSS1) mice exhibited lower FS susceptibility and Srp9 expression than C57BL/6J mice. In vivo knockdown of brain Srp9 reduced FS susceptibility. Mice with reduced Srp9 expression and FS susceptibility, exhibited reduced hippocampal AMPA and NMDA currents. Downregulation of neuronal Srp9 reduced surface expression of AMPA receptor subunit GluA1. mTLE patients with antecedent FS had higher SRP9 expression than patients without. SRP9 promoter SNP rs12403575(G/A) was genetically associated with FS and mTLE. Interpretation Our findings identify SRP9 as a novel FS susceptibility gene and indicate that SRP9 conveys its effects through endoplasmic reticulum (ER)-dependent synthesis and trafficking of membrane proteins, such as glutamate receptors. Discovery of this new FS gene and mechanism may provide new leads for early diagnosis and treatment of children with complex FS at risk for mTLE." @default.
• W2127976593 created "2016-06-24" @default.
• W2127976593 creator A5001227180 @default.
• W2127976593 creator A5002947114 @default.
• W2127976593 creator A5007729168 @default.
• W2127976593 creator A5009029253 @default.
• W2127976593 creator A5016615959 @default.
• W2127976593 creator A5017009749 @default.
• W2127976593 creator A5018627313 @default.
• W2127976593 creator A5021800311 @default.
• W2127976593 creator A5023585572 @default.
• W2127976593 creator A5024542015 @default.
• W2127976593 creator A5025478405 @default.
• W2127976593 creator A5028007582 @default.
• W2127976593 creator A5029646120 @default.
• W2127976593 creator A5030871402 @default.
• W2127976593 creator A5037615614 @default.
• W2127976593 creator A5038804078 @default.
• W2127976593 creator A5042169674 @default.
• W2127976593 creator A5044189909 @default.
• W2127976593 creator A5044622080 @default.
• W2127976593 creator A5045529956 @default.
• W2127976593 creator A5049036003 @default.
• W2127976593 creator A5049553755 @default.
• W2127976593 creator A5051321266 @default.
• W2127976593 creator A5052614408 @default.
• W2127976593 creator A5056480595 @default.
• W2127976593 creator A5058356091 @default.
• W2127976593 creator A5059792872 @default.
• W2127976593 creator A5064882987 @default.
• W2127976593 creator A5069562168 @default.
• W2127976593 creator A5072084304 @default.
• W2127976593 creator A5077705713 @default.
• W2127976593 creator A5084198778 @default.
• W2127976593 creator A5088446288 @default.
• W2127976593 creator A5091379651 @default.
• W2127976593 date "2014-03-12" @default.
• W2127976593 modified "2023-10-18" @default.
• W2127976593 title "Identification of<i>Srp9</i>as a febrile seizure susceptibility gene" @default.
• W2127976593 cites W1501571963 @default.
• W2127976593 cites W1521791862 @default.
• W2127976593 cites W1570032933 @default.
• W2127976593 cites W1600804495 @default.
• W2127976593 cites W1963933677 @default.
• W2127976593 cites W1971824853 @default.
• W2127976593 cites W1975956114 @default.
• W2127976593 cites W1982546760 @default.
• W2127976593 cites W1983907751 @default.
• W2127976593 cites W1986880432 @default.
• W2127976593 cites W1986991051 @default.
• W2127976593 cites W1999391469 @default.
• W2127976593 cites W2001215117 @default.
• W2127976593 cites W2005145657 @default.
• W2127976593 cites W2027436298 @default.
• W2127976593 cites W2032401696 @default.
• W2127976593 cites W2033159578 @default.
• W2127976593 cites W2035016947 @default.
• W2127976593 cites W2037666736 @default.
• W2127976593 cites W2043436209 @default.
• W2127976593 cites W2061742208 @default.
• W2127976593 cites W2063512037 @default.
• W2127976593 cites W2065464942 @default.
• W2127976593 cites W2068013244 @default.
• W2127976593 cites W2082023836 @default.
• W2127976593 cites W2082797016 @default.
• W2127976593 cites W2083877419 @default.
• W2127976593 cites W2104784252 @default.
• W2127976593 cites W2123575761 @default.
• W2127976593 cites W2125476474 @default.
• W2127976593 cites W2126350985 @default.
• W2127976593 cites W2129290932 @default.
• W2127976593 cites W2130357751 @default.
• W2127976593 cites W2131958615 @default.
• W2127976593 cites W2132239248 @default.
• W2127976593 cites W2132282183 @default.
• W2127976593 cites W2133623572 @default.
• W2127976593 cites W2135744973 @default.
• W2127976593 cites W2164618032 @default.
• W2127976593 cites W3386641 @default.
• W2127976593 doi "https://doi.org/10.1002/acn3.48" @default.
• W2127976593 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4292741" @default.
• W2127976593 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25590037" @default.
• W2127976593 hasPublicationYear "2014" @default.
• W2127976593 type Work @default.
• W2127976593 sameAs 2127976593 @default.
• W2127976593 citedByCount "15" @default.
• W2127976593 countsByYear W21279765932015 @default.
• W2127976593 countsByYear W21279765932016 @default.
• W2127976593 countsByYear W21279765932017 @default.
• W2127976593 countsByYear W21279765932018 @default.
• W2127976593 countsByYear W21279765932020 @default.
• W2127976593 countsByYear W21279765932021 @default.
• W2127976593 countsByYear W21279765932022 @default.
• W2127976593 countsByYear W21279765932023 @default.
• W2127976593 crossrefType "journal-article" @default.
• W2127976593 hasAuthorship W2127976593A5001227180 @default.
• W2127976593 hasAuthorship W2127976593A5002947114 @default.
• W2127976593 hasAuthorship W2127976593A5007729168 @default.

• next