Results 151 to 160 of about 184,715 (310)

Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis.

Clinical Chemistry
BACKGROUND Optical genome mapping (OGM) is a novel assay for detecting structural variants (SVs) and has been retrospectively evaluated for its performance. However, its prospective evaluation in prenatal diagnosis remains unreported. This study aimed to
Min Xie, Zhao-Jing Zheng, Ying Zhou, Yu-Xin Zhang, Qiong Li, Li-Yun Tian, Juan Cao, Yanting Xu, Jie Ren, Qi Yu, Shan-Shan Wu, Shu Fang, Dan-Yan Zhuang, Juan Geng, Chang-Shui Chen, Haibo Li   +15 more
semanticscholar   +1 more source

Multiscale Hybrid Surface Topographies Orchestrate Immune Regulation, Antibacterial Defense, and Tissue Regeneration

Advanced Healthcare Materials, EarlyView.
Hybrid wrinkled topographies coordinate immune, tissue, and bacterial interactions. The surfaces promote osteointegration, tune macrophage polarization, and inhibit biofilm formation, highlighting a multifunctional strategy for next‐generation implant design.
Mohammad Asadi Tokmedash, Jacob Robins, J. Scott VanEpps, Minji Kim, Jouha Min   +4 more
wiley   +1 more source

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

Scientific Reports
Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions.
Griet De Clercq, Lies Vantomme, Barbara Dewaele, B. Callewaert, O. Vanakker, Sandra Janssens, B. Loeys, Mojca Strazisar, Wouter De Coster, J. Vermeesch, A. Dheedene, B. Menten   +11 more
semanticscholar   +1 more source

New Insights into Atonic Postpartum Hemorrhage: Animal Model Construction Based on Placental Nanodelivery Systems

Advanced Healthcare Materials, EarlyView.
This study develops a placenta‐targeted nanodelivery system co‐loading HMGB1 protein and the NLRP3 agonist nigericin to establish an animal model of atonic postpartum hemorrhage. The model accurately recapitulates clinical phenotypes, including prolonged labor and uterine contractility dysfunction, while revealing inflammatory activation in placental ...
Jiangxue Qu, Ruiqi Wu, Hai Jiang, Lian Chen, Yingying Tian, Shuai Zeng, Tongmin Liu, Cheng Zhao, Huifeng Shi, Xiaolong Liang, Yangyu Zhao   +10 more
wiley   +1 more source

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders

Genome Medicine
Structural variations (SVs) are key genetic contributors to neurodevelopmental disorders (NDDs). Exome sequencing (ES), the current first-line tool for genetic testing of NDDs, falls short in SVs detection. This diagnostic gap is being actively addressed
Bing Xiao, Xiaomei Luo, Yi Liu, Hui Ye, Huili Liu, Yanjie Fan, Yongguo Yu   +6 more
semanticscholar   +1 more source

Multivalent Protein Nanorings for Broad and Potent SARS‐CoV‐2 Neutralization

Advanced Healthcare Materials, EarlyView.
A protein‐only, modular multivalent nanoscaffold displaying 20 anchor points, decorated with two different binders (10 of each), targeting the SARS‐CoV‐2 receptor‐binding domain is presented. The construct self‐assembles into stable, biocompatible, homogeneous nanoparticles, exhibit synergistic binding with fM IC50 values. It also detects spike at 9 ng 
Molood Behbahanipour, Carla Goldin, Cecilia Arahi Prato, Ana Luz Paletta, Oriol Bárcenas, Susanna Navarro, Jordi Pujols, Daniel H. Murgida, María Virginia Tribulatti, Sebastián Esperante, Damian Alvarez‐Paggi, Salvador Ventura   +11 more
wiley   +1 more source

Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection

Journal of Personalized Medicine
Structural variants drive tumorigenesis by disrupting normal gene function through insertions, inversions, translocations, and copy number changes, including deletions and duplications.
Laura Budurlean, D. Tukaramrao, Lijun Zhang, S. Dovat, J. Broach   +4 more
semanticscholar   +1 more source

Gentamicin‐Loaded Carbonate Apatite with Dual Antibacterial and Osteogenic Functions for Combating Surgical Site Infections

Advanced Healthcare Materials, EarlyView.
A bone substitute with gentamicin physically precipitated onto the surface of carbonate apatite exhibits prompt drug release, high bactericidal activity, and osteogenic capacity. Efficient antibacterial activity mitigates early postoperative neutrophil accumulation, the status of which may serve as a potential parameter for evaluating the antibacterial
Linghao Xiao, Gabriela Laranjeira Abe, Jun‐Ichi Sasaki, Haruaki Kitagawa, Ririko Tsuboi, Tomoki Kohno, Satoshi Imazato   +6 more
wiley   +1 more source

Cytogenetics in the genomics era: why karyotyping still matters

BMC Medical Genomics
Despite advances in next-generation sequencing and optical genome mapping, conventional cytogenetics, particularly karyotyping, remain indispensable in modern medical genomics.
Alain Chebly
doaj   +1 more source

Optical Genome Mapping Reveals Complex and Cryptic Rearrangement Involving PML::RARA Fusion in Acute Promyelocytic Leukemia

Genes
Background/objectives: Acute promyelocytic leukemia (APL) is an aggressive subtype of acute myeloid leukemia (AML), characterized by the hallmark translocation t(15;17) resulting in a PML::RARA fusion.
Melanie Klausner, Victoria Stinnett, Jennifer Ghabrial, Laura A Morsberger, Natalie DeMetrick, Patty Long, Jing Zhu, Kirstin Smith, Trisha James, Emily Adams, Ying S. Zou   +10 more
semanticscholar   +1 more source