Results 61 to 70 of about 1,328,374 (245)

NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment

Advanced Science, EarlyView.
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou, Shu Ding, Zhenyi Zhang, Qiaoling Shangguan, Jie Qiao, Peijie Zhou, Yidong Chen   +6 more
wiley   +1 more source

Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations

Frontiers in Pediatrics
BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by defects in adrenal steroidogenesis. Conventional genetic methods struggle to resolve complex structural variations and pseudogene interference in key ...
Junfeng Zeng, Junfeng Zeng, Xiaoling Huang, Xiaoling Huang, Yanwei Li, Tizhen Yan, Jiwu Lou, Guizhen Lyu, Yanjin Li, Yanjin Li   +9 more
doaj   +1 more source

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Relationship between increased maternal serum free human chorionic gonadotropin levels in the second trimester and adverse pregnancy outcomes: a retrospective cohort study

BMC Women's Health
Background A retrospective cohort study was conducted to collect the data of pregnant women who received hospital delivery in Hangzhou Women's Hospital from January 2018 to December 2020, and who participated in the second trimester (15–20+6 weeks) of ...
Yiming Chen, Xiaoqing Dai, Bin Wu, Chen Jiang, Yixuan Yin   +4 more
doaj   +1 more source

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p–syndrome

Heliyon
Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial clinical and genetic heterogeneity were observed in CDC patients.
Yizhao Luan, Peng Li, Yuanyuan Luo, Hong Zhang, Xiaochun Zhu, Yan Zhang, Aihua Yin, Qiang Wu, Chengwei Chai   +8 more
doaj   +1 more source

Expanding Genetic Code to Generate Human Brain Organoids with Both Vasculature and Microglia‐Like Cells

Advanced Science, EarlyView.
Using genetic code expansion, we engineered vascularized human cerebral organoids (vhCOs) with microglia‐like cells and blood‐brain barrier features. vhCOs recapitulate neurovascular interactions, regional identities, and neuronal subtypes resembling the fetal brain.
Haishuang Lin, Yaqing Wang, Hu Du, Yuxin Qin, Haoyu Zhang, Peng Wang, Lin Wei, Jianhua Qin   +7 more
wiley   +1 more source

Assessing the psychological impact and acceptability of a first-trimester screening test for pre-eclampsia [PDF]

, 2015
BACKGROUND: A first-trimester prenatal screening test for pre-eclampsia was launched in 2010. It differs from previously assessed prenatal screening tests.
Harris, JM
core  

Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down's Syndrome [PDF]

, 2013
PMCID: PMC3604109This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
Jonathan P. Bestwick (130538), Wald, NJ, Bestwick, JP, Jonathan P Bestwick, Nicholas J Wald, Jonathan P. Bestwick, Wald Nicholas J., Nicholas J. Wald (130535), Nicholas J. Wald, Bestwick Jonathan P.   +9 more
core   +2 more sources

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, EarlyView.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

A Spatiotemporal Single‐Cell Atlas Uncovers Dysregulated ECM Dynamics and Septal Remodeling Arrest in Human Ventricular Septal Defects

Advanced Science, EarlyView.
Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang, Lun Zhu, Ze Sun, Ruolin Jia, Ziming Wang, Jiayao Zhao, Bohao Liu, Haiqing Xiong, Xiaowei Yu, Yanzhu Yue   +9 more
wiley   +1 more source