Results 81 to 90 of about 29,161 (207)

Functional validation of driver mutation‐specific uveal melanoma biomarkers: role of COL9A3 in cancer cell plasticity

The Journal of Pathology, EarlyView.
Abstract Uveal melanoma (UM) is a deadly ocular malignancy with well‐described genetic alterations that predict disease outcome. However, our current understanding of the biological underpinnings of high‐risk uveal melanoma progression remains relatively limited. Using RNA expression profiles from 250 patients with UM, we identified 12 novel biomarkers
QCC van den Bosch, RM Verdijk, H Fadlelseed, TPP van den Bosch, S Owens, S Kennedy, E Kilic, E Brosens   +7 more
wiley   +1 more source

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

Genome Biology, 2017
CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-
Haiwei Mou, Jordan L. Smith, Lingtao Peng, Hao Yin, Jill Moore, Xiao-Ou Zhang, Chun-Qing Song, Ankur Sheel, Qiongqiong Wu, Deniz M. Ozata, Yingxiang Li, Daniel G. Anderson, Charles P. Emerson, Erik J. Sontheimer, Melissa J. Moore, Zhiping Weng, Wen Xue   +16 more
doaj   +1 more source

Targeting the CD47–SIRPα phagocytic checkpoint in cancer: Biology, translational opportunities, and next‐generation therapeutic strategies

Smart Molecules, EarlyView.
The CD47–SIRPα axis has emerged as a critical innate immune checkpoint that suppresses macrophage‐mediated phagocytosis through a canonical “don't eat me” signal and enables tumor immune evasion. We comprehensively summarize the structural and biological features of CD47 and the molecular mechanisms underlying CD47‐mediated regulation of phagocytosis ...
Ruimei Zhou, Lingjie Jing, Jianping Zhang, Cheng Guo, Quanjun Yang   +4 more
wiley   +1 more source

Modeling Hereditary Angioedema With Personalized EPSC‐Derived Hepatocytes: A CRISPR‐Validated Platform for Mutation‐Specific Mechanisms and Therapeutic Innovation

Allergy, EarlyView.
Patient‐derived expanded potential stem cell (EPSC) hepatocytes reveal that pathogenic SERPING1 variants cause distinct cellular defects in hereditary angioedema. While most mutations reduce SERPING1 transcription and C1‐INH secretion, a large deletion induces intracellular C1‐INH retention.
Xueyan Liu, Yuxin Wang, Jane C. Y. Wong, Xiang Zhang, Cuixi Wu, Pengyu Chen, Yunzhi Yang, Pentao Liu, Chak Sing Lau, Matthew Cook, Philip Hei Li   +10 more
wiley   +1 more source

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Lodewijk J.A. Toonen, Frank Rigo, Haico van Attikum, Willeke M.C. van Roon-Mom   +3 more
doaj   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

DHX15 affects AML1‐ETO9a splicing together with HNRNPL, RBM33 in AML1‐ETO‐positive acute myeloid leukaemia

British Journal of Haematology, EarlyView.
Moderate DHX15, HNRNPL and RBM33 expression drives predominant AML1‐ETO mRNA production, while elevated expression of them promotes generating more AE9a mRNA (Aspartic acid ‐ Glutamic acid ‐ Alanine ‐ Aspartic acid sequence)(messenger ribonucleic acid).
Qiao Liu, Xuechun Wang, Jiqiang Fan, Yi Zheng, Luya Ye, Wenhan Chang, Xianglei Chen, Yuanhua Cai, Xiaolin Lai, Yang Li, Lili Pan, Xiaofan Li, RenJang Lin, Shaoyuan Wang   +13 more
wiley   +1 more source

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Splicing Factor Mutations in Clonal Hematopoiesis and Progression to Myeloid Neoplasms

Cancer Science, EarlyView.
Splicing factor (SF)‐mutant CH is characterized by relatively late emergence and accelerated clonal expansion in older individuals. This review summarizes its clonal dynamics, disease‐associated consequences of SF mutations in myeloid neoplasms, and candidate mechanisms that may contribute to age‐dependent selection.
Yang Lyu, Yutong Zhang, Ayana Kon
wiley   +1 more source

Clinical and Imaging Features of Tepotinib‐Induced Interstitial Lung Disease in the Post‐Marketing Setting in Japan

Cancer Science, EarlyView.
This article reports on the clinical and imaging features of tepotinib‐induced interstitial lung disease (ILD), which were evaluated by an ILD adjudication committee composed of external respiratory and radiology experts, and the committee expertly identified 35 patients with tepotinib‐induced ILD from spontaneous adverse event reports accumulated in ...
Terufumi Kato, Tomohisa Baba, Masahiro Endo, Shehla Endo, Eisuke Horii, Masahiko Kusumoto   +5 more
wiley   +1 more source