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Page 1
Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis.
Pfisterer U, Petukhov V, Demharter S, Meichsner J, Thompson JJ, Batiuk MY, Asenjo-Martinez A, Vasistha NA, Thakur A, Mikkelsen J, Adorjan I, Pinborg LH, Pers TH, von Engelhardt J, Kharchenko PV, Khodosevich K. Pfisterer U, et al. Nat Commun. 2020 Oct 7;11(1):5038. doi: 10.1038/s41467-020-18752-7. Nat Commun. 2020. PMID: 33028830 Free PMC article.
Epilepsy is one of the most common neurological disorders, yet its pathophysiology is poorly understood due to the high complexity of affected neuronal circuits. To identify dysfunctional neuronal subtypes underlying seizure activity in the human brain, we ha …
Epilepsy is one of the most common neurological disorders, yet its pathophysiology is poorly understood due to the high complexity of affect …
pTDP-43 levels correlate with cell type-specific molecular alterations in the prefrontal cortex of C9orf72 ALS/FTD patients.
Wang HV, Xiang JF, Yuan C, Veire AM, Gendron TF, Murray ME, Tansey MG, Hu J, Gearing M, Glass JD, Jin P, Corces VG, McEachin ZT. Wang HV, et al. Proc Natl Acad Sci U S A. 2025 Mar 4;122(9):e2419818122. doi: 10.1073/pnas.2419818122. Epub 2025 Feb 25. Proc Natl Acad Sci U S A. 2025. PMID: 39999167 Free PMC article.
Reduction of layer 2-3 cortical projection neurons with high expression of CUX2/LAMP5 also occurs early, and the reduction becomes more pronounced as pTDP-43 accumulates. Several unique features were observed only in samples with high levels of pTDP-43, inclu …
Reduction of layer 2-3 cortical projection neurons with high expression of CUX2/LAMP5 also occurs early, and the reduction bec …
ScISOr-ATAC reveals convergent and divergent splicing and chromatin specificities between matched cell types across cortical regions, evolution, and in Alzheimer's Disease.
Hu W, Foord C, Hsu J, Fan L, Corley MJ, Bhatia TN, Xu S, Belchikov N, He Y, Pang AP, Lanjewar SN, Jarroux J, Joglekar A, Milner TA, Ndhlovu LC, Zhang J, Butelman E, Sloan SA, Lee VM, Gan L, Tilgner HU. Hu W, et al. bioRxiv [Preprint]. 2024 Feb 28:2024.02.24.581897. doi: 10.1101/2024.02.24.581897. bioRxiv. 2024. PMID: 38464236 Free PMC article. Preprint.
We applied ScISOr-ATAC to three major conditions: comparing (i) the Rhesus macaque (Macaca mulatta) prefrontal cortex (PFC) and visual cortex (VIS), (ii) cross species divergence of Rhesus macaque versus human PFC, as well as (iii) dysregulation in Alzheimer's disease in …
We applied ScISOr-ATAC to three major conditions: comparing (i) the Rhesus macaque (Macaca mulatta) prefrontal cortex (PFC) and visual corte …
CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder.
Jacobsen NJ, Elvidge G, Franks EK, O'Donovan MC, Craddock N, Owen MJ. Jacobsen NJ, et al. Am J Med Genet. 2001 Apr 8;105(3):295-300. doi: 10.1002/ajmg.1325. Am J Med Genet. 2001. PMID: 11353453
The gene for Darier disease was mapped to chromosome 12q23-q24.1 and linkage studies have subsequently implicated this region as harboring a susceptibility gene for bipolar affective disorder. We have genomically characterized the human homologue of murine Cux-2, a neur …
The gene for Darier disease was mapped to chromosome 12q23-q24.1 and linkage studies have subsequently implicated this region as harboring a …
Automated immunohistochemical method to analyze large areas of the human cortex.
Abbass M, Trought K, Long D, Semechko A, Wong AHC. Abbass M, et al. J Neurosci Methods. 2018 Jan 15;294:81-90. doi: 10.1016/j.jneumeth.2017.10.024. Epub 2017 Nov 7. J Neurosci Methods. 2018. PMID: 29126813
Discrepancies in previously published reports may arise from small sample sizes, inconsistent methodology and biased cell counting. METHODS: We applied automated quantification of neuron density, neuron size and cortical layer thickness in large regions of th …
Discrepancies in previously published reports may arise from small sample sizes, inconsistent methodology and biased cell counting. M …
Comprehensive Transcriptomic Investigation of Rett Syndrome Reveals Increasing Complexity Trends from Induced Pluripotent Stem Cells to Neurons with Implications for Enriched Pathways.
Odabasi YC, Yanasik S, Saglam-Metiner P, Kaymaz Y, Yesil-Celiktas O. Odabasi YC, et al. ACS Omega. 2023 Nov 8;8(46):44148-44162. doi: 10.1021/acsomega.3c06448. eCollection 2023 Nov 21. ACS Omega. 2023. PMID: 38027357 Free PMC article.
While intense research efforts are required to fulfill this unmet need, the fundamental challenge is to obtain sufficient patient data. In this study, we used human transcriptomic data of four different sample types from RTT patients including induced pluripotent st …
While intense research efforts are required to fulfill this unmet need, the fundamental challenge is to obtain sufficient patient data. In t …
Altered layer-specific gene expression in cortical samples from patients with temporal lobe epilepsy.
Rossini L, Moroni RF, Tassi L, Watakabe A, Yamamori T, Spreafico R, Garbelli R. Rossini L, et al. Epilepsia. 2011 Oct;52(10):1928-37. doi: 10.1111/j.1528-1167.2011.03246.x. Epub 2011 Aug 29. Epilepsia. 2011. PMID: 21883179
METHODS: We analyzed the expression patterns of CUX2, RORBETA, ER81, NURR1, and CTGF genes, respectively specific markers of layers II-III, IV, V, VI, and VIb, in surgical samples by means of in situ hybridization and compared them with those observed in control cor …
METHODS: We analyzed the expression patterns of CUX2, RORBETA, ER81, NURR1, and CTGF genes, respectively specific markers of layers I …
pTDP-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of C9orf72 ALS/FTD patients.
Wang HV, Xiang JF, Yuan C, Veire AM, Gendron TF, Murray ME, Tansey MG, Hu J, Gearing M, Glass JD, Jin P, Corces VG, McEachin ZT. Wang HV, et al. bioRxiv [Preprint]. 2024 Jun 13:2023.01.12.523820. doi: 10.1101/2023.01.12.523820. bioRxiv. 2024. Update in: Proc Natl Acad Sci U S A. 2025 Mar 04;122(9):e2419818122. doi: 10.1073/pnas.2419818122. PMID: 36711601 Free PMC article. Updated. Preprint.
Reduction of layer 2-3 cortical projection neurons with high expression of CUX2/LAMP5 also occurs early, and the reduction becomes more pronounced as pTDP-43 accumulates. Several unique features were observed only in samples with high levels of pTDP-43, inclu …
Reduction of layer 2-3 cortical projection neurons with high expression of CUX2/LAMP5 also occurs early, and the reduction bec …