Results 11 to 20 of about 27,023 (191)

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

Advanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang, Qian Shen, Yao Lin, Jing Zhu, Xiaolan Zhu, Rui Huang, Yijia Wu, Feiyang Shen, Qian Li, Guopei Zheng, Zhe Zhang, Qian Chu, Junhao Hu, Jianfeng Shen   +13 more
wiley   +1 more source

Unraveling the Morphological and Functional Maturation Mechanisms Underlying Human Neural Development Using iPSCs‐Derived Neuronal Model

Advanced Science, EarlyView.
Using human induced pluripotent stem cells (hiPSCs)‐derived neuronal model, Tian and colleagues reveal that voltage‐gated calcium channels Cav1.2 and Cav1.3, and their mediated calcium ion influx, are essential for early morphogenesis of human neuronal development, while ECEL1 underlies human neuronal functional developmental maturation through CALM3 ...
Yue Tian, Yi‐Chun Ou, Zi‐Xian Zhang, Jie Cai, Si‐Qing Cai, Guo‐Gang Xing   +5 more
wiley   +1 more source

TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network

Advanced Science, EarlyView.
A retinoic acid receptor agonist, TTNPB, drives the efficient generation of advanced neural stem cells (ANSCs) from human pluripotent stem cells. TTNPB‐centered chromatin remodeling and metabolic reprogramming, promote neuroectoderm commitment. The resulting cells show robust neural potential and functional efficacy in a rat depression model.
Ruilin Du, Yudi Ren, Qiaoqiao Meng, Peng Wei, Ruyu Zhu, Junjie Bao, Ye Yang, Shuo Yan, Chaorong Yue, Xueying Zhu, Shuo Cao, Chunxia Hao, Wei Sun, Yongli Song, Xihe Li, Zhimin Wu, Siqin Bao, Yanglin Chen   +17 more
wiley   +1 more source

An Open‐Source Pipeline for Calcium Imaging and All‐Optical Physiology in Human Stem Cell‐Derived Neurons

Advanced Science, EarlyView.
This work introduces an open‐source all‐optical platform for functional phenotyping of human stem cell‐derived neurons. The system integrates optogenetics, calcium imaging, automated acquisition, and analysis to resolve single‐cell and network activity, enabling longitudinal measurements, disease modeling, and pharmacological screening in preclinical ...
Wardiya Afshar‐Saber, Federico M. Gasparoli, Ziqin Yang, Nicole A. Teaney, Rachel Hobson, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Ranit Karmakar, Elizabeth D. Buttermore, Kellen D. Winden, Cidi Chen, Mustafa Sahin   +12 more
wiley   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

Mechanisms of Aristolochic Acid Resistance in Specialist Butterflies and Evolutionary Insights for Potential Protective Pathways

Advanced Science, EarlyView.
The study provides an extreme example of insect adaptation to highly toxic defenses of host plants, and investigates the complex strategies to resist carcinogenic aristolochic acids, including physical isolation, metabolic detoxification, and DNA repair.
Yang Luan, Yubo Zhang, Jingjing Li, Jianqing Zhu, Yuyang Lei, Yushi Hu, Zhenqiang Xin, Tianpei Xie, Jiang Zheng, Yuanyuan Lin, Jingjing Shen, Yiyi Cao, Xinyue You, Jing Xi, Jiaying Wu, Weiying Liu, Xinyu Zhang, Yuanting Zheng, David J. Lohman, Leming Shi, Wei Zhang   +20 more
wiley   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source