Results 121 to 130 of about 207,257 (328)

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

npj Genomic Medicine, 2017
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady   +12 more
doaj   +1 more source

CD103+ T Cells Eliminate Damaged Alveolar Epithelial Type II Cells Under Oxidative Stress to Prevent Lung Tumorigenesis

Advanced Science, EarlyView.
This work unravels a novel function of CD103+ T cells in eradicating oxidative‐stressed somatic cells to prevent lung tumorigenesis and identifies specific CD103+ T cell‐decline as a key feature in the aged lung. This comprehensive study highlights the contribution of immuno‐dysregulation to the high incidence of aging‐associated lung cancers ...
Yu Xu, Haorui Luo, Jiahao Wang, Haifeng Liu, Luonan Chen, Hongbin Ji, Zimu Deng, Xiaolong Liu   +7 more
wiley   +1 more source

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]

, 2018
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A   +7 more
core  

SF3A3 Drives Tumorigenesis in Endometrial Cancer by Enhancing c‐FOS Expression and Represents a Potential Therapeutic Target

Advanced Science, EarlyView.
The role of splicing factor 3A subunit 3 (SF3A3) in driving endometrial cancer (EC) progression and potential therapeutic interventions. SF3A3, a core component of the U2 small nuclear ribonucleoprotein (U2 snRNP), is upregulated in endometrial cancer (EC) and promotes tumor growth and cisplatin resistance. RNA‐binding protein immunoprecipitation (RIP)
Wei Yu, Yi Gu, Hengrui Zhang, Wunan Huang, Lei Sun, Liangjian Ma, Xiaolei Liang, Lexin Liu, Guiping Chen, Weihua Wang, Zhongkai Cao, Xue Li, Xiangjun Chen, Lidan Hu   +13 more
wiley   +1 more source

BRD4 Signaling Maintains the Differentiated State of β Cells

Advanced Science, EarlyView.
The comprehensive exploration revealed the critical role of BRD4 in β cells. BRD4 plays a fundamental role in maintaining β cell differentiation because both long‐term and acute BRD4 deficiency result in a reduction in insulin secretion and downregulation of differentiation markers.
Fuqiang Liu, Guang Liu, Jia Song, Yujing Sun, Mengmeng Yang, Hualin Liu, Hongkai Zhao, Jiamu Chen, Qincheng Qiao, Siyue Li, Chenglong Yu, Jingru Qu, Ying Zou, Tixiao Wang, Jidong Liu, Lei Zhao, Huihui Tian, Tao Huang, Manna Zhang, Li Chen, Ruxing Zhao, Yuanyuan Du, Xinguo Hou   +22 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

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency [PDF]

, 2010
Alexandre Bolze, Minji Byun, David McDonald, Neil V. Morgan, Avinash Abhyankar, Lakshmanane Premkumar, Anne Puel, Chris M. Bacon, Frédéric Rieux‐Laucat, Ki Pang, Alison Britland, Laurent Abel, Andrew J. Cant, Eamonn R. Maher, Stefan J. Riedl, Sophie Hambleton, Jean‐Laurent Casanova   +16 more
openalex   +1 more source

Deciphering the Acetabular Labrum's Cellular Atlas: MDK Inhibition as a Novel Therapeutic Method for Developmental Dysplasia of the Hip

Advanced Science, EarlyView.
This study explores developmental dysplasia of the hip (DDH) by analyzing acetabular labrum abnormalities using single‐cell and spatial transcriptomics. Aberrant fibrocartilage stem cell proliferation is linked to DDH progression. Targeting the MK signaling pathway with a specific inhibitor effectively alleviates early DDH abnormalities, offering ...
Runze Yang, Huiling Liu, Minghao Ge, Dingyuan Zhang, Tianhao Xu, Lei Zhang, Yanlin Zhu, Shun Li, Jian Li, Xin Ma, Weili Fu   +10 more
wiley   +1 more source

O1‐03‐02: Exome sequencing of late‐onset extended Alzheimer families [PDF]

, 2010
Stephan Züchner, Gary W. Beecham, Jonathan L. Haines, Margaret A. Pericak‐Vance   +3 more
openalex   +1 more source

Personalized Neoantigen Vaccine plus Regorafenib Increases Rgs2⁺CD8⁺ T Cells Infiltration and Reprograms the Tumor Microenvironment in Microsatellite Stable Colorectal Cancer Liver Metastases

Advanced Science, EarlyView.
This study synthesized a personalized neoantigen vaccine (Neo‐CRCVAS) and combined it with regorafenib, termed RegoNeo. This combination therapy significantly enhanced antitumor efficacy and promoted long‐term tumor‐specific immune memory in microsatellite stable colorectal cancer liver metastasis (MSS‐CRLM) models by increasing neoantigen‐specific ...
Hengkai Chen, Bin Chen, Yuanfeng Yang, Shoufeng Li, Huajun Cai, Zhicheng Zhuang, Yong Wu, Yuan Gao, Yupeng Chen, Xing Liu, Guoxian Guan, Jinfu Zhuang   +11 more
wiley   +1 more source