Polyclonal Rabbit CACNA2D4 Antibody
- Known as:
- Polyclonal Rabbit CACNA2D4 Antibody
- Catalog number:
- KA0497
- Product Quantity:
- 100ul
- Category:
- -
- Supplier:
- KareBay
- Gene target:
- Polyclonal Rabbit CACNA2D4 Antibody
Related genes to: Polyclonal Rabbit CACNA2D4 Antibody
- Gene:
- CACNA2D4 NIH gene
- Name:
- calcium voltage-gated channel auxiliary subunit alpha2delta 4
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 12p13.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-01-06
- Date modifiied:
- 2016-02-04
Related products to: Polyclonal Rabbit CACNA2D4 Antibody
Related articles to: Polyclonal Rabbit CACNA2D4 Antibody
- Bipolar disorder (BD) is a major mood disorder influenced by both genetic and environmental factors. While DNA methylation from peripheral tissues can reflect both genetic and environmental influences and reveal insights into disease biology, it remains understudied in BD. DNA methylation signatures may complement polygenic scores (PGS) and hold potential as biomarkers. Here, we conducted the largest epigenome-wide association study (EWAS) of BD to date and evaluated the predictive value of polymethylation scores (PMS) in classifying case-control status. - Source: PubMed
Publication date: 2026/05/08
Tesfaye MarkosStavrum Anne-KristinHöffler Kira DO'Connell Kevin SDavid Friederike SGarrett Melanie EHesam-Shariati SoniaOvers Bronwyn JPisanu ClaudiaSpano LuanaWatkeys Oliver JWeihs AntoineArdau RafaellaAshley-Koch Allison EAthanasiu LaviniaBeckham Jean CBourassa Kyle JChillotti CaterinaDjurovic SrdjanDrange Ole KFrank JosefKhayachi AnouarKimbrel Nathan AMartorell LourdesMeinert SusanneMelle IngridMorken GunnarParibello PasqualePinna MarcoRoberts GloriaRouleau GuySchofield Peter RSepúlveda EstebanSeverino GiovanniSteen Vidar MStein FrederikeStreit Fabian Lagerberg Trine VikAlda MartinDannlowski UdoForstner Andreas JFullerton Janice MGrabe Hans JGreen Melissa JKircher TiloLabad JavierManchia MirkoMitchell Philip BSoares Jair CSquassina AlessioTeumer AlexanderTondo LeonardoVilella ElisabetAndreassen Ole AChaumette BorisFries Gabriel RLe Hellard Stephanie - Retinal dysfunction associated with CACNA2D4 gene defects is a rare disorder of photoreceptor to bipolar cell signaling. We report two affected siblings presenting a surprising disparity of retinal involvement. - Source: PubMed
Publication date: 2025/08/29
Smirnov VasilyDhaenens Claire-MarieCanel VincentDefoort-Dhellemmes Sabine - A 70-year-old man undergoing treatment for immunoglobulin G4-related disease developed a liver mass on computed tomography during routine imaging examination. The tumor was located in the hepatic S1/4 region, was 38 mm in size, and showed arterial enhancement on dynamic contrast-enhanced computed tomography. We performed a liver biopsy and diagnosed moderately differentiated hepatocellular carcinoma. The patient underwent proton beam therapy. The tumor remained unchanged but enlarged after 4 years. The patient was diagnosed with hepatocellular carcinoma recurrence and received hepatic arterial chemoembolization. However, 1 year later, the patient developed jaundice, and the liver tumor grew in size. Unfortunately, the patient passed away. Autopsy revealed that the tumor consisted of spindle-shaped cells exhibiting nuclear atypia and a fission pattern and tested positive for α-smooth muscle actin and vimentin. No hepatocellular carcinoma components were observed, and the patient was pathologically diagnosed with hepatic leiomyosarcoma. Next-generation sequencing revealed somatic mutations in CACNA2D4, CTNNB1, DOCK5, IPO8, MTMR1, PABPC5, SEMA6D, and ZFP36L1. Based on the genetic mutation, sarcomatoid hepatocarcinoma was the most likely pathogenesis in this case. This mutation is indicative of the transition from sarcomatoid hepatocarcinoma to hepatic leiomyosarcoma. - Source: PubMed
Publication date: 2024/03/09
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Publication date: 2023/10/03
Wang XianweiLiu LuJiang XiaohuaSaredy JasonXi HangCueto RamonSigler DanniKhan MohsinWu ShengJi YongSnyder Nathaniel WHu WenhuiYang XiaofengWang Hong - Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. The aim of the current study was to explore genomic regions and candidate genes that potentially cause this trait in this family. For three family members with developmental colour agnosia and three unaffected family members CGH-array analysis and exome sequencing was performed, and linkage analysis was carried out using DominantMapper, resulting in the identification of 19 cosegregating chromosomal regions. Whole exome sequencing resulted in 11 rare coding variants present in all affected family members with developmental colour agnosia and absent in unaffected members. These variants affected genes that have been implicated in neural processes and functions (CACNA2D4, DDX25, GRINA, MYO15A) or that have an indirect link to brain function, development or disease (MAML2, STAU1, TMED3, RABEPK), and a remaining group lacking brain expression or involved in non-neural traits (DEPDC7, OR1J1, OR8D4). Although this is an explorative study, the small set of candidate genes that could serve as a starting point for unravelling mechanisms of higher level cognitive functions and cortical specialization, and disorders therein such as developmental colour agnosia. - Source: PubMed
Publication date: 2023/09/06
Nijboer Tanja C WHessel Ellen V Svan Haaften Gijs Wvan Zandvoort Martine Jvan der Spek Peter JTroelstra Christinede Kovel Carolien G FKoeleman Bobby P Cvan der Zwaag BertBrilstra Eva HBurbach J Peter H