Van Wauwe, Jore; 111330; Mahy, Alexia; 165583; Craps, Sander; Ekhteraei-Tousi, Samaneh; Vrancaert, Pieter; Kemps, Hannelore; 152345; Dheedene, Wouter; Donate Puertas, Rosa; Trenson, Sander; 92711; Roderick, H. Llewelyn; 90877;
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PRDM16 is a transcription factor with histone methyltransferase activity expressed at the earliest stages of cardiac development. Pathogenic mutations in humans lead to cardiomyopathy, conduction abnormalities, and heart failure. PRDM16 is specifically expressed in ventricular but not atrial cardiomyocytes, and its expression declines postnatally. ...
Cantarella, Simona Vezzoli, Marco Carnevali, Davide Morselli, Marco Zemke, Nathan Montanini, Barbara Daussy, Coralie Wodrich, Harald Teichmann, Martin Pellegrini, Matteo
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Alu retrotransposons, which form the largest family of mobile DNA elements in the human genome, have recently come to attention as a potential source of regulatory novelties, most notably by participating in enhancer function. Even though Alu transcription by RNA polymerase III is subjected to tight epigenetic silencing, their expression has long b...
Zhang, Tianyi Au, Wei-Chun Ohkuni, Kentaro Shrestha, Roshan Kaiser, Peter Basrai, Munira
Centromeric localization of evolutionarily conserved CENP-A (Cse4 in Saccharomyces cerevisiae) is essential for chromosomal stability. Mislocalization of overexpressed CENP-A to noncentromeric regions contributes to chromosomal instability in yeasts, flies, and humans. Overexpression and mislocalization of CENP-A observed in many cancers are associ...
Pasquini, Lorenzo Pereira, Felipe L Seddighi, Sahba Zeng, Yi Wei, Yongbin Illán-Gala, Ignacio Vatsavayai, Sarat C Friedberg, Adit Lee, Alex J Brown, Jesse A
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In frontotemporal lobar degeneration (FTLD), pathological protein aggregation in specific brain regions is associated with declines in human-specialized social-emotional and language functions. In most patients, disease protein aggregates contain either TDP-43 (FTLD-TDP) or tau (FTLD-tau). Here, we explored whether FTLD-associated regional degenera...
Flynn, Aidan Waszak, Sebastian Weischenfeldt, Joachim
Somatic hypermutation in cancer has gained momentum with the increased use of tumour mutation burden as a biomarker for immune checkpoint inhibitors. Spontaneous deamination of 5-methylcytosine to thymine at CpG dinucleotides is one of the most ubiquitous endogenous mutational processes in normal and cancer cells. Here, we performed a systematic in...
Koka, Hela Zhou, Weiyin McMaster, Mary Bai, Jiwei Luo, Wen Klein, Alyssa Zhang, Tongwu Hua, Xing Li, Xin Wang, Difei
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Chordoma is a rare bone cancer with variable clinical outcomes. Here, we recruited 184 sporadic chordoma patients from the US and Canada and collected their clinical and treatment data. The average age at diagnosis was 45.5 years (Range 5-78) and the chordoma site distribution was 49.2% clivus, 26.2% spinal, and 24.0% sacral. Most patients (97.5%) ...
Romero, Miguel F Krall, Jeffrey B Nichols, Parker J Vantreeck, Jillian Henen, Morkos A Dejardin, Emmanuel Schulz, Frederik Vicens, Quentin Vögeli, Beat Diallo, Mamadou Amadou
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Z-nucleic acid structures play vital roles in cellular processes and have implications in innate immunity due to their recognition by Zα domains containing proteins (Z-DNA/Z-RNA binding proteins, ZBPs). Although Zα domains have been identified in six proteins, including viral E3L, ORF112, and I73R, as well as, cellular ADAR1, ZBP1, and PKZ, their p...
Snyder, Allison Ryan, Veronica H Hawrot, James Lawton, Sydney Ramos, Daniel M Qi, Y Andy Johnson, Kory R Reed, Xylena Johnson, Nicholas L Kollasch, Aaron W
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IntroductionVariants of uncertain significance (VUS) surged with affordable genetic testing, posing challenges for determining pathogenicity. We examine the pathogenicity of a novel VUS P93S in Annexin A11 (ANXA11) - an amyotrophic lateral sclerosis/frontotemporal dementia-associated gene - in a corticobasal syndrome kindred. Established ANXA11 mut...
Park, Jesslyn Desai, Hetvee Liboy-Lugo, José M Gu, Sohyun Jowhar, Ziad Xu, Albert Floor, Stephen N
IGHMBP2 is a nonessential, superfamily 1 DNA/RNA helicase that is mutated in patients with rare neuromuscular diseases SMARD1 and CMT2S. IGHMBP2 is implicated in translational and transcriptional regulation via biochemical association with ribosomal proteins, pre-rRNA processing factors, and tRNA-related species. To uncover the cellular consequence...
Rakibova, Yulduz Dunham, Drew Seed, Kim Freddolino, Lydia
UNLABELLED: Vibrio cholerae, the causative agent of the diarrheal disease cholera, poses an ongoing health threat due to its wide repertoire of horizontally acquired elements (HAEs) and virulence factors. New clinical isolates of the bacterium with improved fitness abilities, often associated with HAEs, frequently emerge. The appropriate control an...