Results 51 to 60 of about 55,479 (231)

Clinical Applications of Chromosomal Microarray Analysis

Journal of Genetic Medicine, 2010
Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods.
openaire   +1 more source

Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia

Advanced Science, EarlyView.
This study clarifies the genetic patterns of paternal lineages across East Asia and Mainland Southeast Asia. Han populations are relatively homogeneous, whereas southern ethnolinguistic minorities display regional structures. Shared Y‐chromosome lineages indicate Neolithic expansions and extensive north‐south gene flow, supporting demic diffusion ...
Yunhui Liu, Lintao Luo, Yutong Jiang, Minzhu Zhao, Ting Yang, Zhiyong Wang, Lisiteng Luo, Yuhang Feng, Zihao Zhu, Yuzhu Wang, Limei Zhang, Bofeng Zhu, Chao Liu, Renkuan Tang, Mengge Wang, Guanglin He   +15 more
wiley   +1 more source

β‐Adrenergic Signaling Promotes Anti‐Tumor Immunity in TP53‐mutant Oral Squamous Cell Carcinoma

Advanced Science, EarlyView.
β‐adrenergic stimulation enhances anti‐tumor immunity in TP53‐deficient oral squamous cell carcinoma by inducing tumor‐derived secretion of CXCL10, which attracts and activates cytotoxic CD8+ T cells. The findings demonstrate that β‐adrenergic signaling alters tumor–immune interactions via CXCL10‐mediated paracrine activation, revealing a neuro‐immune ...
Frederico O. Gleber‐Netto, Deborah Silverman, Tongxin Xie, Shamima Akhter, Nicole R. Vaughn, Adewale Adebayo, Kala Chand Debnath, Shorook Naara, Shajedul Islam, Erik Knutsen, Emily Lorin Ashkin, Simone Anfossi, Sara Leahey, Patrick Hwu, Sebastien Talbot, Erica K Sloan, Robert Saddawi‐Konefka, Roberto Rangel, Jeffrey N. Myers, George A. Calin, Moran Amit   +20 more
wiley   +1 more source

Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies

Journal of Clinical Medicine, 2022
Background: To assess the value of chromosomal microarray analysis (CMA) during the prenatal diagnosis of high-risk pregnancies. Methods: Between January 2016 and November 2021, we included 178 chorionic villi and 859 amniocentesis samples from consecutive cases at a multiple tertiary hospital. Each of these high-risk singleton pregnancies had at least
Ching-Hua Hsiao, Jia-Shing Chen, Yu-Ming Shiao, Yann-Jang Chen, Ching-Hsuan Chen, Woei-Chyn Chu, Yi-Cheng Wu   +6 more
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ZBTB21 Is a Dual Suppressor of Pyroptosis and MHC‐I Antigen Presentation That Promotes Tumor Immune Evasion

Advanced Science, EarlyView.
ZBTB21 is a transcription factor that epigenetically suppresses pyroptosis and MHC‐I antigen presentation, enabling tumor immune evasion. Genetic ablation of ZBTB21 activates pyroptotic cell death and enhances antigen presentation, recruiting CD8+ T cells to overcome immune checkpoint blockade resistance.
Lei Zhao, Linlin Sheng, Jianhao Qiu, Junjie Ma, Kai Jin, Binggong Zhao, Tianrun Miao, Jing Chen, Yehong Li, Zhan Zhang, Dongfeng Sun, Yongmeng Li, Hui Tian   +12 more
wiley   +1 more source

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel

Risk Management and Healthcare Policy, 2021
Xiangqun Fan,1,* Hailong Huang,1,* Xiyao Lin,2 Huili Xue,1 Meiying Cai,1 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect ...
Fan X, Huang H, Lin X, Xue H, Cai M, Lin N, Xu L   +6 more
doaj  

Nanoparticle‐Mediated Immunometabolic‐Epigenetic Remodeling Enhances Schwann Cell‐Macrophage Interaction for Sciatic Nerve Regeneration

Advanced Science, EarlyView.
A biomimetic Prussian White nanoparticle (PW) is engineered to achieve long‐term local retention and orchestrate immunometabolic‐epigenetic remodeling for sciatic nerve regeneration. PW directly targets hexokinase 2 to suppress glycolysis, thereby elevating α‐ketoglutarate and driving Kdm4a/b‐mediated demethylation of H3K9me3.
Wenying Xu, Rongrong Wu, Zhicheng Liu, Hongyu Yan, Huan Zhang, Yuanyi Zheng, Xiaojun Cai   +6 more
wiley   +1 more source

Mepylome: A Point‐of‐Care Tumor Diagnostic Toolkit for Tumor DNA Methylation and Copy Number Analysis

Advanced Intelligent Systems, EarlyView.
DNA methylation and chromosomal copy number profiling have recently become essential for tumor diagnostics. The open‐source tool Mepylome enables this task in clinical routine. It combines several machine learning strategies and allows users to interactively examine respective data through an intuitive graphical interface. Running up to 65 times faster
Jon Brugger, Claus Hultschig, Daniel Baumhoer, Baptiste Ameline, Benjamin Maciej Freyter, Stephan Frank, Jürgen Hench   +6 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

Chromosomal microarray analysis in fetuses with aberrant right subclavian artery [PDF]

Ultrasound in Obstetrics & Gynecology, 2017
ABSTRACTObjectiveTo evaluate the association between aberrant right subclavian artery (ARSA), with or without additional risk factors for aneuploidy or ultrasound abnormality, and results of chromosomal microarray analysis (CMA).MethodsThis was a multicenter study of fetuses diagnosed with ARSA that underwent genetic analysis by CMA, all samples being ...
I, Maya, S, Kahana, J, Yeshaya, T, Tenne, S, Yacobson, I, Agmon-Fishman, L, Cohen-Vig, A, Levi, E, Reinstein, L, Basel-Vanagaite, R, Sharony   +10 more
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