Results 221 to 230 of about 127,514 (315)

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Protocol to study the effects of mutations near splicing sites on pre-mRNA splicing. [PDF]

STAR Protoc
Xie D, Peng Q, Tian Y, Han Y, Lu G.
europepmc   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Emerging and re-emerging themes in co-transcriptional pre-mRNA splicing. [PDF]

Mol Cell
Carrocci TJ, Neugebauer KM.
europepmc   +1 more source

Aberrant alternative splicing of purinergic receptor P2RX4 prevents sensitivity towards combinatorial treatment in colorectal and pancreatic cancer

The Journal of Pathology, EarlyView.
Abstract Recently, we suggested the combination of chemotherapy and P2RX4 inhibition as a promising novel therapeutic approach for P2RX4‐expressing epithelial tumors to prevent paracrine resistance. Here, we aimed to assess whether determining P2RX4 expression status in colorectal and pancreatic cancer patients would allow stratification of potentially
Christoph Steup, Julian Dosch, Christopher Dietz‐Fricke, Sara Khosraviseftejani, Esther Engel, Adalbert F de Valk, Dominic Menger, Patrick Welker, Peter J Wild, Kilian B Kennel, Maja Kantlehner, Paul K Ziegler, Florian R Greten   +12 more
wiley   +1 more source

TTK promotes mitophagy by regulating ULK1 phosphorylation and pre-mRNA splicing to inhibit mitochondrial apoptosis in bladder cancer. [PDF]

Cell Death Differ
Chen K, Chen J, Cong Y, He Q, Liu C, Chen J, Li H, Ju Y, Chen L, Song Y, Xing Y.   +10 more
europepmc   +1 more source

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

PROTEOMICS, EarlyView.
ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella, Jens Möller, Christopher Lischer, Julio Vera‐Gonzalez, Jörg Hofmann, Lisa Ott, Andreas Burkovski   +6 more
wiley   +1 more source

Npac Regulates Pre-mRNA Splicing in Mouse Embryonic Stem Cells. [PDF]

Int J Mol Sci
Qian Y, Ye Y, Zhang W, Wu Q.
europepmc   +1 more source

Omics Insights Into the Effects of Highbush Blueberry and Cranberry Crop Agroecosystems on Honey Bee Health and Physiology

PROTEOMICS, EarlyView.
ABSTRACT Honey bees (Apis mellifera) are vital pollinators in fruit‐producing agroecosystems like highbush blueberry (HBB) and cranberry (CRA). However, their health is threatened by multiple interacting stressors, including pesticides, pathogens, and nutritional changes.
Huan Zhong, Yuming Shi, Aleksandra Kozlova, Renata Moravcova, Jason C. Rogalski, Aidan Jamieson, Lance Lansing, Kyung‐Mee Moon, Xiaojing Yuan, Amanda S. Gregoris, Heather Higo, Julia Common, Ida M. Conflitti, Mateus Pepinelli, Lan Tran, Morgan Cunningham, Hosna Jabbari, Syed Abbas Bukhari, Sarah K. French, Rodrigo Ortega Polo, Shelley E. Hoover, Stephen F. Pernal, Pierre Giovenazzo, M. Marta Guarna, Amro Zayed, Leonard J. Foster   +25 more
wiley   +1 more source

SRSF10 regulates oligodendrocyte differentiation during mouse central nervous system development by modulating pre-mRNA splicing. [PDF]

Nucleic Acids Res
Mu Y, Wei Z, Sun M, Li J, Jiang Y, Jiang H, Ma A, Zhu C, Chen X.   +8 more
europepmc   +1 more source