Results 111 to 120 of about 9,461 (226)

Age‐Associated Transcriptomic and Epigenetic Alterations in Mouse Hippocampus

Aging Cell, Volume 24, Issue 11, November 2025.
Single‐nucleus multiome sequencing of hippocampus reveals aging‐dependent changes in gene expression and chromatin accessibility. Chromatin alterations in synaptic genes often occur without corresponding expression changes, suggesting a “susceptible” chromatin state.
Merve Bilgic, Rinka Obata, Vlada‐Iuliana Panfil, Ziying Zhu, Mai Saeki, Yukiko Gotoh, Yusuke Kishi   +6 more
wiley   +1 more source

A Frank Assessment of SHANK: Impacts of Pathogenic Variations in SHANK3 on Preclinical Models of Phelan McDermid Syndrome

Autism Research, Volume 18, Issue 10, Page 1935-1964, October 2025.
ABSTRACT Although there are as many as 40 preclinical models of the neurodevelopmental disorder Phelan McDermid syndrome (PMS, or 22q13.3 deletion syndrome), detailed phenotypic analyses to compare the effects of different pathogenic variants and inform treatment design are lacking.
Vic Lin, Samantha M. Matta, Julia E. Dallman, Suzanne Hosie, Manon Moreau, Ashley E. Franks, Thomas Bourgeron, Elisa L. Hill‐Yardin   +7 more
wiley   +1 more source

Dramatic loss of Ube3A expression during aging of the mammalian cortex

Frontiers in Aging Neuroscience, 2010
Neurobiological studies of aging are beginning to link functional changes with a loss of experience-dependent plasticity. In the visual system, age-related functional changes include decreases in visual acuity, orientation selectivity, motion perception,
Kate Williams, David A Irwin, David G Jones, Kathryn M Murphy, Kathryn M Murphy   +4 more
doaj   +1 more source

Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience

Acta Medica Bulgarica, 2020
Objective: The aim of the study was to determine the molecular mechanisms of mutagenesis in Bulgarian patients with Angelman syndrome (AS). AS is a severe neurodevelopmental disorder caused by loss of expression in brain of the maternally inherited UBE3A
Georgieva B., Atemin S., Todorova A., Todorov T., Miteva A., Avdjieva-Tzavella D., Mitev V.   +6 more
doaj   +1 more source

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. [PDF]

, 2015
Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner.
A Crescenzo De, A Ibrahim, A Linglart, A Linglart, A Mussa, A Sparago, A Uyar, A Varrault, AC Brehin, AJ Smith de, AP Abreu, B Horsthemke, C Gicquel, C Rougeulle, CW Hanna, D Mackay, DB Macedo, DH Ledbetter, DJ Mackay, DJ Mackay, E Meyer, EL Wakeling, F Brioude, F Brioude, F Brioude, F Cerrato, F Schreiner, G Mantovani, G Poke, GP Nanclares de, H Al Adhami, HA Wollmann, I Iglesias-Platas, I Netchine, IK Temple, IK Temple, J Beygo, J Beygo, J Boucher, J Demars, JM Kalish, K Buiting, K Buiting, K Buiting, K Grønskov, K Hosoki, L Tee, L Vries de, LE Docherty, LE Docherty, LG Shaffer, LM Bird, M Begemann, M Gunay-Aygun, M Kagami, M Kagami, M Kagami, M Kagami, N Richard, N Settas, PJ Yong, RJ Gardner, S Abu-Amero, S Azzi, S Azzi, S Bruce, S Choufani, S Maupetit-Méhouas, S Murdoch, S Spengler, SE Boonen, T Eggermann, T Eggermann, T Eggermann, T Sahoo, T Takenouchi, TH Bestor, TH Vu, VA Holm, W Abi Habib, WH Tan, WN Cooper, Y Ioannides, Y Stelzer   +83 more
core   +7 more sources

The RBPJ/DAPK3/UBE3A signaling axis induces PBRM1 degradation to modulate the sensitivity of renal cell carcinoma to CDK4/6 inhibitors [PDF]

, 2022
Wentao Liu, Bin Zhang, Dan Zhang, Feng Guo, Kun Ye, Liang Zhu, Xin Jin   +6 more
openalex   +1 more source

Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis [PDF]

, 2011
Mutations in the cathepsin D (CTSD) gene cause an aggressive neurodegenerative disease (congenital neuronal ceroid lipofuscinosis) that leads to early death. Recent evidence suggests that presynaptic abnormalities play a major role in the pathogenesis of
Andrew Edwards, Ann K. Wright, Belly, Cepeda, Garborg, Jaana Tyynelä, Jonathan D. Cooper, Klapstein, Koike, Sabine Koch, Saftig, Svetlana M. Molchanova, Thomas H. Gillingwater, Tomi Taira   +13 more
core   +1 more source

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria [PDF]

, 2018
.: The Angelman syndrome (AS) is caused by genetic abnormalities affecting the maternal copy of chromosome region 15q12. Until recently, the molecular diagnosis of AS relied on the detection of either a deletion at 15q11-13, a paternal uniparental disomy
Balmer, D., Baumer, A., Schinzel, A.
core  

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis [PDF]

, 2016
BACKGROUND: We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay.
Boustred, C, Brittain, H, Hurst, JA, Jenkins, L, Kurian, MA, McTague, A, Meyer, E, Morrogh, D, Ngoh, A, Palmer, R, Papandreou, A, Scott, RH, Trump, N   +12 more
core   +1 more source

Identification of genes induced by BRCA1 in breast cancer cells [PDF]

, 2002
Cataloged from PDF version of article.Inherited mutations of the BRCA1 gene predispose to breast, ovarian, and other cancers. The role of the BRCA1 gene in the maintenance of chromosomal integrity is linked to a number of biological properties of its ...
Aprelikova, Balint, Bochar, Borg, Borg, Bruening, Diatchenko, Harkin, Hashizume, Hirano, Kachhap, Kitagawa, Lei, MacLachlan, Miki, Monteiro, Murphy, Nasmyth, Ruffner, Schultz, Scully, Scully, Sonoda, Van’t Veer, Venkitaraman, Wang, Wang, Welcsh, Yamanaka, Zheng   +29 more
core   +1 more source