Results 151 to 160 of about 112,737 (278)

Chromatin unwinding state for in situ identification and lineage tracing of circulating tumor cells

iMeta, EarlyView.
The detection of circulating tumor cells (CTCs) through liquid biopsy offers a non‐invasive approach for accurately monitoring cancer dissemination and evaluating therapeutic efficiency. However, their rarity and heterogeneity limit conventional tumor antigen labelling‐based methods in identifying and tracing CTCs.
Bin Ye, Zhen Wang, Yinqi Bai, Xu Zhang, Rui Zhang, Jingru Lian, Xuefei Liu, Yan Zhang, Zhiyuan Xu, Li Yang, Haiman Jin, Fang Chen, Zhihao Xie, Ping Zhou, Jun Tan, Shan Zeng, Changzheng Du, Yang Min, Xiaomin Ni, Jingxian Duan, Zhicheng Li, Hui Yang, Yunpeng Cai, Hongyan Wu, Catherine C. Liu, Jing Cai, Yi Lu, Jian Zhang, Hao Wu, Hairong Zheng, Longqi Liu, Xin Hong, Hao Yu   +32 more
wiley   +1 more source

Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis. [PDF]

Hum Genet
Eldesouky M, Shiyas S, Islam A, Hasan MN, Hossain MT, Akter H, Saiful M, Berdiev BK, Kuebler WM, Rahman P, Woodbury-Smith M, Hasan SM, Uddin M, Nassir N.   +13 more
europepmc   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

Interdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li, Shun Wang, Guowei Zhao, Jiangtao Li, Xin Li, Bingning Wang, Yi Zhang, Mengfei Yao, Lei Guo, Jianming Ying, Wenbin Li   +10 more
wiley   +1 more source

Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China. [PDF]

Med Sci Monit
Wang H, Zhang L, Yang T, Jia Y, Liu R, Jia Z, Liu Y, Bai G.   +7 more
europepmc   +1 more source

Reward processing in children with affective dysregulation

JCPP Advances, EarlyView.
Abstract Background Affective dysregulation (AD) in children is characterized by irritability, anger, and frequent intense temper outbursts. Considerable evidence implies altered processing of frustration about missed rewards, but few studies investigated the preceding and thus potentially predictive reward anticipation and initial delivery processing ...
Pascal‐M. Aggensteiner, Francisca Giller, Nathalie Holz, Anna Kaiser, Christine Igel, Sarah Hohmann, Manfred Döpfner, Veit Roessner, Christian Beste, Tobias Banaschewski, Daniel Brandeis, on behalf ofthe ADOPT Consortium   +11 more
wiley   +1 more source

ML-ExonCNV: a robust XGBoost multi-expert ensemble framework for rare exon CNV detection in whole-exome sequencing data. [PDF]

Brief Bioinform
Yang SH, He H, Hou S, Yang T, Yin Z, Zhang HY, Gu W.   +6 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Choroidal Vascular Findings in a Case of Multifocal Geographic Atrophy: A Clinicopathologic Correlation. [PDF]

Invest Ophthalmol Vis Sci
McLeod DS, Bhutto IA, Messinger JD, Berlin A, Grebe R, Bijon J, Freund KB, Curcio CA, Edwards MM.   +8 more
europepmc   +1 more source

Single‐Cell Transcriptomic Analysis Reveals Epithelial‐Mesenchymal Transition and Key Gene AGRN as a Universal Programme in Gastrointestinal Tumours by an Artificial Intelligence‐Derived Prognostic Index

Med Research, EarlyView.
Intra‐tumour heterogeneity is present in gastrointestinal tumours at the single‐cell level. Cell cycling, EMT, MYC and TNF‐α are the four main consensus meta‐programs in gastrointestinal tumours. Then, a prognostic model based on intratumoral heterogeneity was constructed using an artificial intelligence‐derived prognostic index.
Zhizhan Ni, Pengyuan Zhu, Liming Liu, Haiyang Wang, Jinzhe Zhou, Xianqing Wang, Song Wang, Liangchen Zhu, Songze Zhang, Yongxin Zhou, Bujun Ge, Qi Huang, Chenshen Huang   +12 more
wiley   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source