Results 231 to 240 of about 29,886 (297)

Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population. [PDF]

Ann Lab Med, 2018
Kim B, Lee ST, Kim S, Choi JR, Kim HO.
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Multiplex Ligation-Dependent Probe Amplification to Detect HER2 Amplification in Breast Cancer: New Insights in Optimal Cut-Off Value

Cellular Oncology, 2010
Cathy B. Moelans, Roel A. de Weger, P. J. van Diest   +2 more
doaj   +1 more source

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. [PDF]

Mol Genet Genomic Med, 2017
Sukalo M, Schäflein E, Schanze I, Everman DB, Rezaei N, Argente J, Lorda-Sanchez I, Deshpande C, Takahashi T, Kleger A, Zenker M.   +10 more
europepmc   +1 more source

Targeted Inhibition of CD74+ Macrophages by Luteolin via CEBPB/P65 Signaling Ameliorates Osteoarthritis Progression

Advanced Science, Volume 13, Issue 7, 3 February 2026.
This study identifies CD74⁺ macrophages as key drivers of synovial inflammation in osteoarthritis (OA). The flavonoid luteolin is predicted to inhibit this pathway by blocking Nuclear Factor Kappa‐light‐chain‐enhancer of Activated B cells (NF‐κB) signaling. To enhance delivery, a targeted nanoplatform (MDSPL) is developed.
Rui Peng, Bo Yu, Lei Zhang, Zhaowen Xue, Lutian Yao, Qingjun Yang, Zitao Liu, Sizhi Wu, Yongquan Huang, Xiaofei Zheng, Huiying Guo, Songwei Huan, Tao Jiang, Huajun Wang, Yulong Wei, Tao Gui   +15 more
wiley   +1 more source

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis [PDF]

Mol Cytogenet, 2014
Sharma P, Roy Chowdhury M, Gupta N, Shukla R, Sudarshan S, Ghosh M, Deka D, Kabra M.   +7 more
europepmc   +1 more source

Multi‐Omics Reveal the Dysregulated Gut‐Joint Axis in Knee Synovitis: Data from Two Osteoarthritis Studies in China

Advanced Science, Volume 13, Issue 7, 3 February 2026.
The “gut‐joint axis” in knee synovitis is uncovered. Integrated multi‐omics studies are conducted in two independent osteoarthritis cohorts. Synovitis is characterized an increased F/B ratio, as well as alterations of 3‐HIA, geranic acid, and TWEAK. Upregulated TWEAK receptor is found in high‐grade synovitis, and inversely correlated with lower TWEAK ...
Xiaoshuai Wang, Yi Liu, Ziying Sun, Jia Li, Zhihao Lu, Jiayuan Huang, Shixian Hu, Peihua Cao, Xiaolong Cao, Shangru Li, Jianzhao Ruan, Jinhui Liu, Jingyu Xie, Haitao Sun, Tianyu Chen, Shengfa Li, Zhaohua Zhu, Zhibo Wen, Rocky S. Tuan, David John Hunter, Zhong Alan Li, Dongquan Shi, Changhai Ding   +22 more
wiley   +1 more source

Multiplex Ligation-dependent Probe Amplification Can Clarify HER2 Status in Gastric Cancers with "Polysomy 17". [PDF]

J Cancer, 2015
Wang T, Amemiya Y, Henry P, Seth A, Hanna W, Hsieh ET.   +5 more
europepmc   +1 more source

Leucine‐Dependent SLC7A5–PGAM5 Interaction Promotes Advanced Atherosclerosis Through Hindering Mitochondrial Function of Macrophages

Advanced Science, Volume 13, Issue 7, 3 February 2026.
Higher plasma leucine is associated with increased risk of new‐onset myocardial infarction. Leucine deprivation alleviates advanced atherosclerosis in mice. Tumor‐induced leucine deprivation reprograms macrophage metabolism and increases CD5Lhi macrophages in mouse plaques. Mechanistically, leucine deficiency reduced SLC7A5‐PGAM5 binding in macrophages,
Shan Zhong, Xueyu Wang, Qingsong Li, Siqi Wang, Bin Sun, Wenjun Ni, Gengyu Zhou, Fan Wang, Xianwei Xie, Cheng Jin, Gang Xu, Peng Zhao, Xiang Peng, Feiyuan Han, Xiangwen Xi, Yidan Wang, Juan Xu, Yue Wang, Xia Gu, Shuo Li, Jian Zhang, Shuijie Li, Jinwei Tian   +22 more
wiley   +1 more source

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome

American Journal of Hematology, Volume 101, Issue 2, Page 228-241, February 2026.
Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello, Karim Karimi, Slavica Trajkova, Emanuela Garelli, Mehdi Samadieh, Emanuela Iovino, Tommaso Pippucci, Giovanni Papagni, Sandra Dalfonso, Lucia Corrado, Serena Rizzo, Adriana Carando, Jennifer Kerkhof, Jessica Rzasa, Haley McConkey, Michael Levy, Marco Zecca, Francesca Fioredda, Angelica Barone, Simone Cesaro, Maria Gabelli, Francesca Torchio, Giulia Zucchetti, Maria Elena Cantarini, Paola Corti, Ugo Ramenghi, Franco Locatelli, Franca Fagioli, Bekim Sadikovic, Alfredo Brusco   +29 more
wiley   +1 more source