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TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.
Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, Maher BJ. Davis BA, et al. Biol Psychiatry. 2024 Apr 1;95(7):662-675. doi: 10.1016/j.biopsych.2023.07.021. Epub 2023 Aug 10. Biol Psychiatry. 2024. PMID: 37573005
Transcriptomic analysis indicated that these phenotypes resulted in part from altered expression of genes involved in presynaptic neurotransmission and identified the presynaptic binding protein RIMBP2 as the most differentially expressed gene in PTHS neurons. Remarkably, …
Transcriptomic analysis indicated that these phenotypes resulted in part from altered expression of genes involved in presynaptic neurotrans …
TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons.
Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, Maher BJ. Davis BA, et al. bioRxiv [Preprint]. 2023 Jan 20:2023.01.19.524788. doi: 10.1101/2023.01.19.524788. bioRxiv. 2023. Update in: Biol Psychiatry. 2024 Apr 1;95(7):662-675. doi: 10.1016/j.biopsych.2023.07.021 PMID: 36712024 Free PMC article. Updated. Preprint.
Transcriptomic analysis indicates these phenotypes result from altered expression of genes involved in presynaptic neurotransmission and identifies the presynaptic binding protein, RIMBP2 as the most differentially expressed gene in PTHS neurons. Remarkably, TCF4-dependent …
Transcriptomic analysis indicates these phenotypes result from altered expression of genes involved in presynaptic neurotransmission and ide …
RIM-Binding Proteins Are Required for Normal Sound-Encoding at Afferent Inner Hair Cell Synapses.
Krinner S, Predoehl F, Burfeind D, Vogl C, Moser T. Krinner S, et al. Front Mol Neurosci. 2021 Mar 23;14:651935. doi: 10.3389/fnmol.2021.651935. eCollection 2021. Front Mol Neurosci. 2021. PMID: 33867935 Free PMC article.
In contrast, the reduction of Ca(2+)-influx and sustained exocytosis was similar to that in RIMBP2(-/-) IHCs. We conclude that both RIM-BPs are required for normal sound encoding at the IHC synapse, whereby RIM-BP2 seems to take the leading role....
In contrast, the reduction of Ca(2+)-influx and sustained exocytosis was similar to that in RIMBP2(-/-) IHCs. We conclude that both R …
Canonical Wnt Signaling Modulates the Expression of Pre- and Postsynaptic Components in Different Temporal Patterns.
Martinez M, Torres VI, Vio CP, Inestrosa NC. Martinez M, et al. Mol Neurobiol. 2020 Mar;57(3):1389-1404. doi: 10.1007/s12035-019-01785-5. Epub 2019 Nov 19. Mol Neurobiol. 2020. PMID: 31745835
Gene expression of the presynaptic proteins Rim1, piccolo (Pclo), Erc2, Ctbp1 and Rimbp2 increased in a specific temporal pattern. Simultaneously, the mRNA and protein levels of postsynaptic components showed a different temporal expression pattern, e.g., the mRNAs for pos …
Gene expression of the presynaptic proteins Rim1, piccolo (Pclo), Erc2, Ctbp1 and Rimbp2 increased in a specific temporal pattern. Si …
Genome-wide association studies for mottled eggs in chickens using a high-density single-nucleotide polymorphism array.
Qu L, Shen MM, Dou TC, Ma M, Lu J, Wang XG, Guo J, Hu YP, Li YF, Wang KH. Qu L, et al. Animal. 2021 Jan;15(1):100051. doi: 10.1016/j.animal.2020.100051. Epub 2020 Dec 10. Animal. 2021. PMID: 33516007 Free article.
Bivariate GWAS provided 29 significant loci, mainly located on GGA2, GGA3, GGA8, GGA10, GGA15, GGA17, and GGA23, affecting mottled egg on laying day. Candidate genes RIMS2, SLC25A32, RIMBP2, VPS13B, and RGS3 were obtained for mottled eggshell by bivariate GWAS and gene ann …
Bivariate GWAS provided 29 significant loci, mainly located on GGA2, GGA3, GGA8, GGA10, GGA15, GGA17, and GGA23, affecting mottled egg on la …
Multi-omics analysis at epigenomics and transcriptomics levels reveals prognostic subtypes of lung squamous cell carcinoma.
Xu Y, She Y, Li Y, Li H, Jia Z, Jiang G, Liang L, Duan L. Xu Y, et al. Biomed Pharmacother. 2020 May;125:109859. doi: 10.1016/j.biopha.2020.109859. Epub 2020 Feb 7. Biomed Pharmacother. 2020. PMID: 32036209 Free article.
Three genes associated with prognosis, NFE2L2, ASAH2, and RIMBP2, were identified by comparing the expression of CNV and MET in subtypes. Analysis of mutational differences between subtypes revealed a group of genes with significant mutations between the iC1 and iC4 subtyp …
Three genes associated with prognosis, NFE2L2, ASAH2, and RIMBP2, were identified by comparing the expression of CNV and MET in subty …
Expression and replication studies to identify new candidate genes involved in normal hearing function.
Girotto G, Vuckovic D, Buniello A, Lorente-Cánovas B, Lewis M, Gasparini P, Steel KP. Girotto G, et al. PLoS One. 2014 Jan 14;9(1):e85352. doi: 10.1371/journal.pone.0085352. eCollection 2014. PLoS One. 2014. PMID: 24454846 Free PMC article.
Four showed expression restricted to sensory hair cells (Csmd1, Arsg, Slc16a6 and Gabrg3), one only in marginal cells of the stria vascularis (Dclk1) while the others (Ptprd, Grm8, GlyBP, Evi5, Rimbp2, Ank2, Cdh13) in multiple cochlear cell types. In the third step, we tes …
Four showed expression restricted to sensory hair cells (Csmd1, Arsg, Slc16a6 and Gabrg3), one only in marginal cells of the stria vasculari …
Sex-Specific Genetic Determinants of Asthma-COPD Phenotype and COPD in Middle-Aged and Older Canadian Adults: An Analysis of CLSA Data.
Odimba U, Senthilselvan A, Farrell J, Gao Z. Odimba U, et al. COPD. 2023 Dec;20(1):233-247. doi: 10.1080/15412555.2023.2229906. COPD. 2023. PMID: 37466093 Free article.
Sex-stratified multivariable analysis of asthma-COPD phenotype showed that 7 SNPs in/near SMYD3, FHIT, ZNF608, RIMBP2, ZNF133, BPIFB1, and S100B loci were significant in males. Sex-stratified multivariable analysis of COPD showed that 8 SNPs in/near MAGI1, COX18, OSTC, ELO …
Sex-stratified multivariable analysis of asthma-COPD phenotype showed that 7 SNPs in/near SMYD3, FHIT, ZNF608, RIMBP2, ZNF133, BPIFB1 …
Differences Between Sorafenib and Lenvatinib Treatment from Genetic and Clinical Perspectives for Patients with Hepatocellular Carcinoma.
Wang L, Wang L, Xiao B, Cui M, Zhang B. Wang L, et al. Med Sci Monit. 2022 Apr 27;28:e934936. doi: 10.12659/MSM.934936. Med Sci Monit. 2022. PMID: 35473892 Free PMC article.
RESULTS Compared with patients with HCC treated with sorafenib, patients treated with lenvatinib developed 8 differentially expressed genes (DEGs, FGF4, FGF23, UNC13C, RIMBP2, STXBP5L, PHOX2B, NEUROD4, and POU4F2) and 3 miRNAs (DEMs, has-miR-548ah, has-miR-888, and has-miR …
RESULTS Compared with patients with HCC treated with sorafenib, patients treated with lenvatinib developed 8 differentially expressed genes …
23 results