Results 271 to 280 of about 838,175 (338)

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Regulatory paradigm of Dscam1 stochastic alternative splicing through conserved long-range RNA structures. [PDF]

Nucleic Acids Res
Dong H, Xu B, Wu L, Wang Z, Li Z, Xie J, Lv J, Yang W, Bao N, Qu H, Fu J, Yan R, Wang Y, Li L, Shi F, Huang J, Yang X, Jin Y.   +17 more
europepmc   +1 more source

Molecular characterization of the A52 murine hepatocellular carcinoma cell line

Animal Models and Experimental Medicine, EarlyView.
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman, Eun Jin Sun, Miriam Wankell, Matt A. Field, Ulf Schmitz, Lionel Hebbard   +5 more
wiley   +1 more source

CD19 exon 2 skipping is a potential prognostic correlate of anti-CD19 CAR-T therapy relapse. [PDF]

Front Mol Med
Dam SH, Moranzoni G, Høie MH, Modvig S, Wadt KAW, Als-Nielsen B, Schmiegelow K, Vitting-Seerup K, Barnkob MB, Olsen LR.   +9 more
europepmc   +1 more source

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre‐mRNA splicing

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li, Guiying Shi, Jiaming Tang, Yiying Huang, Jie Wang, Xuepei Lei, Lin Bai   +6 more
wiley   +1 more source

Novel splice-site variants in <i>TMPRSS3</i> impair hearing via exon skipping and abrogated protease activity. [PDF]

Front Genet
Wang X, Wang WQ, Huang SS, Wang X, Hu LM, Liu X, Wang QQ, Wang ZD, Xu JC, Yuan YY, Gao X.   +10 more
europepmc   +1 more source

Humanized immune system animal models and their recent applications

Animal Models and Experimental Medicine, EarlyView.
In this review, we provide an updated and comprehensive overview of the current state of humanized immune system animal model research. We discuss the variety of techniques used to produce humanized mice with their respective strengths and weaknesses, and evaluate the advantages and limitations of these models, including issues with incomplete immune ...
Nicolas Skuli, Rudra B. Amin, A’ishah Bakayoko, Marisa Kruidenier, Sahara Aqui, Sarah J. Skuli, Terence P. Gade   +6 more
wiley   +1 more source

A novel and two recurrent UMOD mutations in autosomal dominant tubulointerstitial kidney disease (ADTKD): a case series and literature review. [PDF]

Ren Fail
Yu Y, Gong J, Liu L, Shao L, Shen X, Zhu B.   +5 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source