Ask about this productRelated genes to: Slc9a3r2 antibody
- Gene:
- SLC9A3R2 NIH gene
- Name:
- SLC9A3 regulator 2
- Previous symbol:
- -
- Synonyms:
- SIP-1, TKA-1, NHERF-2, E3KARP
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-02-26
- Date modifiied:
- 2016-02-18
Related products to: Slc9a3r2 antibody
Related articles to: Slc9a3r2 antibody
- The present study aimed to clarify the clinical significance of the cell-free DNA (cfDNA) methylation profile of patients with non-small cell lung cancer (NSCLC) showing the epidermal growth factor receptor (EGFR) gene mutation. - Source: PubMed
Publication date: 2025/04/25
Fujimoto MaoYasuda HiroyukiArai EriNakajima MakotoTakata SaoriMorikawa KeiTanaka HisashiItani HidetoshiHonda TakeshiHoriuchi KazuyaWatanabe KageakiNakagawa HideyukiNakahara YoshiroSeki YoshitakaBessho AkihiroTakahashi NobumasaHayashi KentaroEndo TakeoTakeyama KiyoshiMaekura ToshiyaTakigawa NagioKawase AkikazuEndoh MakotoNemoto KenjiKishi KazumaSoejima KenzoOkuma YusukeTogashi AkiraMatsutani NoriyukiSeki NobuhikoKanai Yae - Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11- a mutation found in KTS patients disabling ROGDI function. This Rogdi mutant model recapitulates most KTS symptoms. Mutants displayed pentylenetetrazol-induced seizures, confirming epilepsy susceptibility. Spontaneous locomotion and circadian activity tests demonstrate Rogdi mutant hyperactivity mirroring patient spasticity. Object recognition impairment indicates memory deficits. Rogdi mutant enamel was markedly less mature. Scanning electron microscopy confirmed its hypomineralized/hypomature crystallization, as well as its low mineral content. Transcriptomic RNA sequencing of postnatal day 5 lower incisors showed downregulated enamel matrix proteins Enam, Amelx, and Ambn. Enamel crystallization appears highly pH-dependent, cycling between an acidic and neutral pH during enamel maturation. Rogdi teeth exhibit no signs of cyclic dental acidification. Additionally, expression changes in Wdr72, Slc9a3r2, and Atp6v0c were identified as potential contributors to these tooth acidification abnormalities. These proteins interact through the acidifying V-ATPase complex. Here, we present the Rogdi mutant as a novel model to partially decipher KTS pathophysiology. Rogdi mutant defects in acidification might explain the unusual combination of enamel and rare neurological disease symptoms. - Source: PubMed
Publication date: 2024/01/03
Jimenez-Armijo AlexandraMorkmued SupawichAhumada José TomásKharouf Najide Feraudy YvanGogl GergoRiet FabriceNiederreither KarenLaporte JocelynBirling Marie ChristineSelloum MohammedHerault YannHernandez MagaliBloch-Zupan Agnès - Breast cancer ranks first in terms of mortality and incidence rates worldwide among women. The HER2+ molecular subtype is one of the most aggressive subtypes; its treatment includes neoadjuvant chemotherapy and the use of a HER2 antibody. Some patients develop resistance despite positive results obtained using this therapeutic strategy. - Source: PubMed
Publication date: 2022/10/21
Barrón-Gallardo Carlos AGarcia-Chagollán MarielMorán-Mendoza Andres JDelgadillo-Cristerna RaulMartínez-Silva María GVillaseñor-García María MAguilar-Lemarroy AdrianaJave-Suárez Luis F - The present study directly tested the crucial role of intestinal gastrin/CCKBR (cholecystokinin B receptor) in the treatment of salt-sensitive hypertension. - Source: PubMed
Publication date: 2022/06/08
Jiang XiaoliangLiu YunpengZhang Xin-YangLiu XueLiu XingWu XianxianJose Pedro ADuan ShunXu Fu-JianYang Zhiwei - Aspirin has known effects beyond inhibiting platelet cyclooxygenase-1 (COX-1) that have been incompletely characterized. Transcriptomics can comprehensively characterize the on- and off-target effects of medications. We used a systems pharmacogenomics approach of aspirin exposure in volunteers coupled with serial platelet function and purified platelet mRNA sequencing to test the hypothesis that aspirin's effects on the platelet transcriptome are associated with platelet function. We prospectively recruited 74 adult volunteers for a randomized crossover study of 81- vs. 325 mg/day, each for 4 weeks. Using mRNA sequencing of purified platelets collected before and after each 4-week exposure, we identified 208 aspirin-responsive genes with no evidence for dosage effects. In independent cohorts of healthy volunteers and patients with diabetes, we validated aspirin's effects on five genes: EIF2S3, CHRNB1, EPAS1, SLC9A3R2 and HLA-DRA. Functional characterization of the effects of aspirin on mRNA as well as platelet ribosomal RNA demonstrated that aspirin may act as an inhibitor of protein synthesis. Database searches for small molecules that mimicked the effects of aspirin on platelet gene expression in vitro identified aspirin but no other molecules that share aspirin's known mechanisms of action. The effects of aspirin on platelet mRNA were correlated with higher levels of platelet function both at baseline and after aspirin exposure-an effect that counteracts aspirin's known antiplatelet effect. In summary, this work collectively demonstrates a dose-independent effect of aspirin on the platelet transcriptome that counteracts the well-known antiplatelet effects of aspirin. - Source: PubMed
Publication date: 2021/11/27
Myers Rachel AOrtel Thomas LWaldrop AlexanderDave SandeepGinsburg Geoffrey SVoora Deepak