Results 71 to 80 of about 142,560 (388)

Karyotyping human and mouse cells using probes from single-sorted chromosomes and open source software.

BioTechniques, 2015
Multispectral karyotyping analyzes all chromosomes in a single cell by labeling them with chromosome-specific probes conjugated to unique combinations of fluorophores.
T. Potapova, J. Unruh, A. Box, W. Bradford, C. Seidel, Brian D. Slaughter, Shamilene Sivagnanam, Yuping Wu, Rong Li   +8 more
semanticscholar   +1 more source

Benchmarking Ploidy Estimation Methods for Bulk and Single‐Cell Whole Genome Sequencing

Advanced Science, EarlyView.
It comprehensively benchmarks computational tools for ploidy estimation from bulk and single‐cell whole‐genome sequencing data. The results highlight the strengths and limitations of each method under different conditions and identify PURPLE and SeCNV show top performance in bulk and single‐cell settings, respectively.
Yawei Song, Zilv Mei, Qijie Zheng, Qingqing Yuan, Yu Liang, Jiaqi Gao, Lang Zhou, Shuheng Wu, Wei Wu   +8 more
wiley   +1 more source

Interactive Karyotyping Training [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities.
Ashwin Kotwaliwale
doaj  

Autologous Organoid‐T Cell Co‐Culture Platform for Modeling of Immune‐Mediated Drug‐Induced Liver Injury

Advanced Science, EarlyView.
A matrix‐free human liver organoid–T cell co‐culture platform enables modeling of immune‐mediated drug‐induced liver injury (iDILI). Using flucloxacillin and patient‐matched cells, this system recapitulates HLA‐B*57:01–restricted CD8⁺ T cell activation and hepatocyte damage.
Fadoua El Abdellaoui Soussi, Michael Brusilovsky, Emma Buck, W Clark Bacon, Sina Dadgar, Aaron Fullerton, Victoria Marsh Durban, Riccardo Barrile, Michael A. Helmrath, Takanori Takebe, Adrian Roth, Magdalena Kasendra   +11 more
wiley   +1 more source

Fragile-X Syndrome

Pediatric Neurology Briefs, 1988
A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy.
J Gordon Millichap
doaj   +1 more source

Clinical significance of phenotyping and karyotyping of circulating tumor cells in patients with advanced gastric cancer

OncoTarget, 2014
BACKGROUND Karyotyping and phenotyping of circulating tumor cells (CTCs) in therapeutic cancer patients is of particular clinical significance in terms of both identifying chemo-resistant CTC subtypes and understanding CTC evolution.
Yilin Li, Xiaotian Zhang, S. Ge, Jing Gao, J. Gong, Ming Lu, Qiyue Zhang, Yanshuo Cao, D. Wang, P. Lin, L. Shen   +10 more
semanticscholar   +1 more source

Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43‐Related ARVC

Advanced Science, EarlyView.
The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen, Xiaochen Wang, Hangping Fan, Yaxun Sun, Tingyu Gong, Hangyuan Qiu, Jue Wang, Ziwei Pan, Yanna Dang, Hongkun Wang, Danni Zhou, Tianyi Zhu, Hao Wang, Xianzhen Chen, Lizhen Xu, Jun Su, Fan Yang, Yiquan Tang, Xuguang Li, Bing Yang, Lenan Zhuang, Wei Wang, Chenyang Jiang, Ping Liang   +23 more
wiley   +1 more source

Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue

Reproductive Biology and Endocrinology, 2014
BackgroundDetermination of fetal aneuploidy is central to evaluation of recurrent pregnancy loss (RPL). However, obtaining this information at the time of a miscarriage is not always possible or may not have been ordered.
R. Kudesia, Marilyn M. Li, Janice L. Smith, Ankita Patel, Zev Williams   +4 more
semanticscholar   +1 more source

Genome‐Wide Protein Interaction Analysis in Parasitic Gyrodactylus Flatworms–Fish Hosts System and Drug Target Identification

Advanced Science, EarlyView.
Genomic data offer a powerful tool for studying the molecular interactions between parasites and their hosts, but they remain scarce for parasitic monogenean flatworms. This study presents the first high‐quality phased genome assembly for monogeneans (Gyrodactylus kobayashii), and uses it to predict key interacting proteins between monogenean parasite ‐
Dong Zhang, Jie‐Mei Zhao, Chuan‐Yu Xiang, Yi‐Wen Ma, Hong‐Peng Lei, Yu‐Ying Shi, Shun Zhou, Xiaofei Zeng, Jinsong Chen, Fei Liu, Benhe Zeng, Rui Song, Ye Hu, Feng Zhang, Xiang Liu, Wen‐Xiang Li, Gui‐Tang Wang, Ivan Jakovlić   +17 more
wiley   +1 more source

Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong

PLoS ONE, 2014
Objective To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Methods Array CGH was performed on 220 samples recruited prospectively as the first-tier test study.
A. Kan, A. Kan, E. Lau, E. Lau, W. Tang, S-Y Chan, Simon C. K. Ding, Kelvin Y. K. Chan, Kelvin Y. K. Chan, Chin-peng Lee, Chin-peng Lee, P. Hui, P. Hui, B. Chung, B. H. Chung, Kwok-fai Leung, T. Ma, W. Leung, M. Tang, M. Tang   +19 more
semanticscholar   +1 more source