Results 71 to 80 of about 122,559 (261)

Exome Sequencing in Every Pregnancy? Results of Trio Exome Sequencing in Structurally Normal Fetuses

Obstetrical & Gynecological Survey
(Abstracted from Prenat Diagn 2025;45:276–286) Prenatal exome sequencing (pES) is a genetic test that can identify single-nucleotide variants and other small mutations not detected by chromosomal microarray analysis (CMA). Diagnostic accuracy and turnaround time improve with trio analysis, which compares exome sequences from the mother ...
Michal Levy, Shira Lifshitz, Mirela Goldenberg‐Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat   +9 more
openaire   +2 more sources

Single‐Cell Transcriptomic Analysis of Tumor Heterogeneity and the Microenvironment in Pseudomyxoma Peritonei

Advanced Science, EarlyView.
This study presents a single‐cell atlas of pseudomyxoma peritonei spanning primary and paired metastatic lesions. Distinct epithelial substates, stromal remodeling, immune exclusion, lipid metabolic reprogramming, and a candidate angiogenic network were identified in metastatic lesions.
Xi Li, Lei Wang, Lei Ai, Zimeng Li, Zhaochangci Chen, Yuchen Luo, Tianran Zhang, Mengjia Liao, Songhao Wang, Jiajia Cui, Ke Liu, Chengxian Guo, Guodong Liu, Jiye Yin, Wei Wu   +14 more
wiley   +1 more source

A Non‐Canonical Core Transcriptional Regulatory Circuit Orchestrates Chromatin Reprogramming to Drive Osimertinib Resistance in Non‐Small Cell Lung Cancer

Advanced Science, EarlyView.
A non‐canonical core transcriptional regulatory circuit, composed of ID3, SMAD3, and NR2F2, drives Osimertinib resistance in non‐small cell lung cancer through super‐enhancer‐mediated activation of EPAS1, which couples neuroendocrine differentiation with ferroptosis evasion.
Aochu Liu, Zhenguo Liu, Lizhen Jiang, Andong Huang, Xinqing Lin, Xinyue Li, Bingyuan Liu, Shiwen Hu, Qiang Pan, Junjun Huang, Liyuan Yin, Liling Jiang, Wei Yi, Wenjun Mao, Yueyuan Zheng, Xianping Shi   +15 more
wiley   +1 more source

Combining Radiation‐Treated Tumor Vaccines With Mn‐MOF Nanoadjuvants to Amplify Radiation Induced Anti‐Tumor Immune Responses

Advanced Science, EarlyView.
Radiotherapy‐treated tumor membranes are integrated with Mn‐MOF nanoadjuvants to generate Mn@RM, a lymph node‐draining nanovaccine that delivers radiotherapy‐remodeled antigenic components. Mn@RM enhances dendritic cell activation, amplifies T cell‐mediated antitumor immunity, and synergizes with radiotherapy and PD‐1 blockade for combination cancer ...
Yiyu Wang, Qiqi Qi, Dezhong Li, Jingshi Tang, Weifeng Wang, Zushun Xu, Qi Xu, Fangfang Du, Qianyuan He   +8 more
wiley   +1 more source

Optimising rapid prenatal exome sequencing in the NHS genomic medicine service: the EXPRESS Synopsis

Health and Social Care Delivery Research
Background Prenatal exome sequencing for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the National Health Service Genomic Medicine Service.
Melissa Hill, Michelle Peter, Morgan Daniel, Hannah McInnes-Dean, Rema Ramakrishnan, Emma Smith, Holly Walton, Laura Blackburn, Jane Fisher, Naomi J Fulop, Marian Knight, Caroline Lafarge, Kerry Leeson-Beevers, Rhiannon Mellis, Stephen Morris, Michael Parker, Sophie Peet, Dagmar Tapon, Wing Han Wu, Sarah L Wynn, Lyn S Chitty   +20 more
doaj   +1 more source

Placental Site Trophoblastic Tumor Acquires Immune Functions by Incorporating Host Maternal Genes

Advanced Science, EarlyView.
PSTT cells, through cell fusion with B cells, incorporate abundant non‐inherited maternal genes that are detectable by DNIMA. These hybrid cells acquire immunotherapy‐resistant genetic changes and increase the expression of B cell‐derived immune‐related molecules such as Ig, HLA, LILRB, SIGLEC10, and so on, creating an immunotolerant environment around
Kyosuke Kagami, Masanori Ono, Yasunari Mizumoto, Tatsuhito Kanda, Takashi Iizuka, Takiko Daikoku, Shin‐ichi Horike, Akira Hattori, Akihito Horie, Sachiko Minamiguchi, Tomoko Fujiwara, Kazuyoshi Hosomichi, Atsushi Tajima, Hirokazu Usui, Kaoru Abiko, Hiroshi Fujiwara   +15 more
wiley   +1 more source

MIS12 Is Required for Kinetochore‐Microtubule Attachment in Oocyte Meiosis

Advanced Science, EarlyView.
A model depicting the role of MIS12 in K‐MT attachment during oocyte meiosis. The presence of MIS12 stabilizes bipolar K‐MT attachments by maintaining the function of NDC80 and its interaction with TUBB. This, in turn, promotes KNL1 assembly and subsequent SAC protein recruitment to kinetochores.
Jian Li, Chun‐Hui Zhang, Yong Wang, Cheng‐Yuan Li, Da‐Rong Wen, Xi Xia, Liang Zhou, Wei‐Ping Qian, Qing‐Yuan Sun, Chang‐Zhong Li   +9 more
wiley   +1 more source

Clinical Exome Sequencing

The Journal of Molecular Diagnostics
Inherited retinal dystrophies (IRDs) represent a diverse group of rare pathologies affecting vision, with significant genetic and clinical variability. Clinical exome sequencing was performed on 143 families clinically diagnosed with IRDs. The obtained variants were filtered and classified according to the American College of Medical Genetics and ...
Barberán-Martínez, P., Balanzá, M., García-Bohorquez, B., Escobar-Parra, S., García-Gil, R., Feliciano-Sánchez, A., Jaijo, T., Aller, E., García-García, G., Millán, J.M.   +9 more
openaire   +3 more sources

PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.

PLoS ONE, 2019
In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing.
Izumi Yamaguchi, Takashi Watanabe, Osamu Ohara, Yoshinori Hasegawa   +3 more
doaj   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source