Results 51 to 60 of about 182,601 (264)

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Large-scale inference of the point mutational spectrum in human segmental duplications

BMC Genomics, 2009
Background Recent segmental duplications are relatively large (≥ 1 kb) genomic regions of high sequence identity (≥ 90%). They cover approximately 4–5% of the human genome and play important roles in gene evolution and genomic disease.
Rognes Torbjørn, Rødland Einar A, Nakken Sigve, Hovig Eivind   +3 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

Genome Medicine, 2018
Background Base substitution catalogues represent historical records of mutational processes that have been active in a cell. Such processes can be distinguished by various characteristics, like mutation type, sequence context, transcriptional and ...
Francis Blokzijl, Roel Janssen, Ruben van Boxtel, Edwin Cuppen   +3 more
doaj   +1 more source

Calpain small subunit homodimerization is robust and calcium‐independent

FEBS Letters, EarlyView.
Calpains dimerize via penta‐EF‐hand (PEF) domains. Using single‐molecule force spectroscopy, we measured the strength and kinetics of PEF–PEF homodimer binding. The interaction is robust, shows a transient conformational step before dissociation, and remains largely insensitive to Ca2+.
Nesha May O. Andoy, Trina Dykstra‐MacPherson, Mathias A. Bell, Peter L. Davies, Ruby May A. Sullan   +4 more
wiley   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Comprehensive cross cancer analyses reveal mutational signature cancer specificity

Quantitative Biology
Mutational signatures refer to distinct patterns of DNA mutations that occur in a specific context or under certain conditions. It is a powerful tool to describe cancer etiology.
Rui Xin, Limin Jiang, Hui Yu, Fengyao Yan, Jijun Tang, Yan Guo   +5 more
doaj   +1 more source

Deciphering tumor immune microenvironment differences between high-grade serous and endometrioid ovarian cancer to investigate their potential in indicating immunotherapy response

Journal of Ovarian Research, 2023
Background Ovarian cancer is a significant public health concern with a poor prognosis for epithelial ovarian cancer. To explore the potential of immunotherapy in treating epithelial ovarian cancer, we investigated the immune microenvironments of 52 ...
Hua Yang, Xiangyu Gu, Rong Fan, Qun Zhu, Sen Zhong, Xirun Wan, Qian Chen, Lan Zhu, Fengzhi Feng   +8 more
doaj   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source