Results 161 to 170 of about 379,249 (335)

Assignment of CSF-1 to 5q33.1: evidence for clustering of genes regulating hematopoiesis and for their involvement in the deletion of the long arm of chromosome 5 in myeloid disorders.

, 1987
Mark J. Pettenati, Michelle M. Le Beau, R.S. Lemons, Etsuko Shima, Ernest S. Kawasaki, Richard A. Larson, C J Sherr, Manuel O. Dı́az, Janet D. Rowley   +8 more
openalex   +2 more sources

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Advanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi, Mohammad Mahdi Hosseini, Ahmadreza Argha, Roxana Zahedi, Nigel H. Lovell, Hamid Alinejad‐Rokny   +5 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

The Chromosome Disorders [PDF]

Archives of Disease in Childhood, 1967
openaire   +2 more sources

Host‐Directed Antiviral Activity of SB2960 Through Selective Induction and Remodeling of Stress Granules

Advanced Science, EarlyView.
Amid the ongoing threat of emerging viral pathogens, host‐directed antivirals offer a strategy to overcome viral mutation and drug resistance. SB2960, a small‐molecule inducer of stress granules (SGs), exhibits potent broad‐spectrum antiviral activity with minimal cytotoxicity.
Wan Gi Byun, Sumin Son, JinAh Lee, Minha Lee, Meehyun Ko, Songrui Zhao, Ju Hee Kim, Kannan Vaithegi, Ji Hoon Kwon, Jung Ho Lee, Sangeun Jeon, Dawon Yi, Peng Zou, Seungtaek Kim, Seung Bum Park   +14 more
wiley   +1 more source

Fibrates Inhibit PLTP‐induced M2 Macrophage Infiltration and Increase the Sensitivity of Hepatocellular Carcinoma to ICIs

Advanced Science, EarlyView.
Phospholipid transfer protein(PLTP) plays a critical role in forming a complex with kinase A (AURKA) and P65. This interaction facilitates phosphorylation of P65 at Ser536, leading to the activation of the NF‐κB signaling pathway. Ultimately, this leads to the upregulation of downstream cytokines, including IL‐6, IL‐8, and CSF‐1, which promotes M2 ...
Xinyue Liang, Yaning Li, Jianxun Cai, Lisi Luo, Pengfei Yang, Yutong Chen, Jiancong Zhou, Yan Zeng, Jiaping Yu, Weiyu Zhang, Wenzheng Pang, Yufang Li, Chunhua Wen, Jian Li, Linjuan Zeng   +14 more
wiley   +1 more source

CircTspan3 Promotes Cartilage Development Through ANNEXIN A2‐Mediated Ferroptosis and Apoptosis Inhibition and Exosome‐Mediated Paracrine Signaling

Advanced Science, EarlyView.
This study reveals that XBP1s drives production of circTspan3, a circular RNA that strengthens cartilage by boosting anabolic activity and limiting cell death. Phosphorylated ANXA2 directs circTspan3 into exosomes, enabling paracrine repair. Exosomal circTspan3 expands growth‐plate cartilage and promotes in vivo regeneration, highlighting its promise ...
Yiming Pan, Fengmei Zhang, Jiayan Zhong, Qian Gong, Nana Geng, Biao Kuang, Qiumei Lan, Miao Yi, Qiqi Zeng, Cheng Chen, Mengtian Fan, Chunliang Zhao, Deping Zeng, Yu Du, Mao Nie, Zhibiao Wang, Fengjin Guo   +16 more
wiley   +1 more source

Autopolyploidization‐Induced Chromatin Remodeling Regulates Leaf Size Variation in Brassica rapa

Advanced Science, EarlyView.
This study demonstrates that monoploid, diploid, and autotetraploid Brassica rapa lines derived from the same genome exhibit distinct leaf morphology. Ploidy changes remodel chromatin accessibility and histone modifications to regulate gene expression, while key transcription factors BrGRF13 and BrARF11 control leaf size and polarity, driving ...
Haoyuan Dong, Yanhong Liu, Yuanming Liu, Shuxin Xuan, Huanhuan Chen, Lai Wei, Guibao Zhang, Hongcui Pei, Zilong Dai, Yanhua Wang, Jinzhu Qiao, Shuangxia Luo, Xueping Chen, Yiguo Hong, Jianjun Zhao, Shuxing Shen, Zefu Lu, Aixia Gu   +17 more
wiley   +1 more source

Quantitative Proteomics and CRISPR/Cas9 Editing Reveal UPR‐Mediated Control of Immunoglobulin Homeostasis in Hybridomas

Advanced Science, EarlyView.
BCR sequencing and subclone analysis correlated immunoglobulin (Ig) chain loss in dysfunctional hybridomas with disrupted monoclonal antibody homeostasis. Proteomics‐guided CRISPR/Cas9 editing revealed that the unfolded protein response (UPR) regulates aberrant Ig synthesis.
Rubing Zou, Xinying Lu, Ying Liu, Peiyu Yang, Shuo Sun, Yihua Liu, Yinyuan Mo, Guonian Zhu, Jae Seong Lee, Yirong Guo   +9 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source