Results 121 to 130 of about 305,564 (250)

Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review

Orphanet Journal of Rare Diseases
Background Primary ciliary dyskinesia (PCD), a rare ciliopathy disorder, is caused by variants in multiple genes, with DNAH5 being one of the most frequently implicated. However, the precise relationship between variant type or location in the DNAH5 gene
Meihua Dong, Xu Shi, Yawen Zhou, Jielin Duan, Li He, Xiaonan Song, Zhiwen Huang, Ruchong Chen, Jing Li, Nan Jia   +9 more
doaj   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

Advanced Science, EarlyView.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim, Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Jeongha Lee, Yoon Ji Jeong, Gyu Tae Park, Seongdo Jeong, Ki Won Hwang, Murim Choi, Jinhong Shin, Suck Won Hong, Jae Ho Kim   +12 more
wiley   +1 more source

Gut Mycobiota‐Associated Tryptophan Catabolites Protect Against Metabolic Dysfunction‐Associated Steatotic Liver Disease

Advanced Science, EarlyView.
ABSTRACT Accumulating evidence suggests that the intestinal microbiota participates in the progression of metabolic dysfunction‐associated steatotic liver disease (MASLD) through microbiota‐host interaction. However, the beneficial role of commensal mycobiota in MASLD progression remains poorly understood.
Shuping Qiao, Shuangya Fan, Juan Xu, Zhen Xu, Chen Peng, Junxing Qu, Ziqian Bing, Shizhen Zhou, Sunan Shen, Guifang Xu, Yue Zhao, Tingting Wang   +11 more
wiley   +1 more source

Restriction of Individual Branched‐Chain Amino Acids has Distinct Effects on the Development and Progression of Alzheimer's Disease in 3xTg Mice

Advanced Science, EarlyView.
Protein restriction (PR) slows Alzheimer's disease (AD) in mice, and other benefits of PR are due to decreased branched‐chain amino acids (BCAAs). We show that restricting any BCAA has benefits, with sex‐ and BCAA‐specific impacts on pathology, molecular signaling, and cognition.
Reji Babygirija, Cara L. Green, Michelle M. Sonsalla, Izabelle Marie F. Le, Fan Xiao, Sarah Yandell, Mariah F. Calubag, Michaela E. Trautman, Anna Tobon, Ryan Matoska, Chung‐Yang Yeh, Charles I. Opara, Isaac Grunow, Diana Vertein, Sophia Schlorf, Bailey A. Knopf, Michael J. Rigby, David A. Harris, Mark P. Keller, Alan D. Attie, Luigi Puglielli, Cholsoon Jang, Dudley W. Lamming   +22 more
wiley   +1 more source

Understanding and Overcoming Antibody‐Drug Conjugate Resistance: Biological Mechanisms and Emerging Analytical Frameworks in Breast Cancer

Advanced Science, EarlyView.
Antibody–drug conjugates (ADCs) transform breast cancer therapy, yet resistance limits their durability. Emerging evidence reveals that ADC failure is not solely tumor‐intrinsic but shaped by dynamic tumor–microenvironment interactions that alter drug delivery, processing, and response.
Minji Seo, Jangsoon Lee, Naoto T. Ueno
wiley   +1 more source

DOT1L Drives Endothelial‐to‐Mesenchymal Transition and Fibrotic Vascular Remodeling via H3K79 Methylation

Advanced Science, EarlyView.
DOT1L as a central epigenetic regulator of EndoMT and pulmonary fibrosis. Acting as an early epigenetic switch, it translates TGFβ–SMAD signaling into H3K79me2‐mediated chromatin remodeling, selectively activates fibrosis‐related genes, and primes ECs for rapid mesenchymal transition.
Yaofeng Wang, Xing Peng, Jingjing Chen, Yun Zhang, Tinghong Zhang, Jingyuan Zhang, Jiaying Fan, Hui Zheng, Qiaoyuan Liu, Zhimin Song, Zhan‐Peng Huang, Shu Meng   +11 more
wiley   +1 more source

Genotype–Phenotype Correlation of the R4810K Variant in Moyamoya Disease [PDF]

Journal of Stroke, 2023
Taedong Ok, Yo Han Jung, Kyung-Yul Lee
doaj   +1 more source

Hepatocyte PIEZO1 Negatively Regulates Lipogenesis and Ameliorates MASLD by Sensing Membrane Tension and Activating AMPK

Advanced Science, EarlyView.
Hepatocytes are subjected to increased membrane tension along with lipid accumulation. Loss of PIEZO1 exacerbates high‐fat diet‐induced MASLD in mice. Activation of PIEZO1 alleviates high‐fat diet‐induced MASLD in mice. PIEZO1 negatively regulates de novo lipogenesis through activation of CaMKK2‐AMPK pathway. ABSTRACT Liver is a central organ for lipid
Hui Chen, Qimeng Wang, Ke Yang, Qinghai Lian, Xuyun Peng, Zhiyong Gong, Xinyi Zhao, Yong Wu, Tian Tao, Siqi Xu, Yifan Chen, Xiaoyan Tang, Jinghui Guo, Geyang Xu, Qi Zhang   +14 more
wiley   +1 more source

Embedded CRISPRi Enhances Gene‐Silencing Efficiency in Drosophila

Advanced Science, EarlyView.
Current CRISPR interference (CRISPRi) technology in Drosophila has limited efficiency. This study introduces the emCRISPRi platform, which significantly enhances transcriptional silencing efficacy by embedding inhibitory domains within the dCas9 architecture.
Pengchong Fu, Xuedi Zhang, Ying Zhou, Jie Zheng, Angyang Sun, Kailong Zhuang, Weiwei Bao, Guanjun Gao   +7 more
wiley   +1 more source