Results 121 to 130 of about 2,310,607 (369)

Chromosomal abnormalities in 457 Turkish patients with MCA/MR

The Turkish Journal of Pediatrics, 2006
The evaluation of multiple congenital abnormalities and/or mental retardation (MCA/MR) is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield.
Figen Celep, Fatma Müjgan Sönmez, Ahmet Karagüzel   +2 more
doaj  

Ultrasound in Women's Health: Mechanisms, Applications, and Emerging Opportunities

Advanced Materials, EarlyView.
As healthcare moves toward decentralization, ultrasound technologies are evolving from strictly imaging tools in clinical settings into versatile diagnostic and therapeutic platforms, with growing roles addressing women's health needs. This review highlights how ultrasound's underlying physical mechanisms can be harnessed to reduce disparities in women'
Sarah B. Ornellas, Bilal Kizilaslan, Aastha Shah, Jason F. Hou, Yoonsoo Shin, Alejandra Hernandez Moyers, Claudia Lozano, Canan Dagdeviren   +7 more
wiley   +1 more source

Phase‐Separation of YAP Mediates AJUBA Super Enhancer Activation to Promote Aberrant Mitosis in Breast Cancer

Advanced Science, EarlyView.
YAP undergoes phase separation to activate the AJUBA super‐enhancer, driving aberrant mitosis through spindle checkpoint dysregulation in breast cancer. This study uncovers a mechanistic link between YAP condensates, super‐enhancer activation, and aneuploidy formation.
Rui Zhang, Qingwen Huang, Zhuo Chen, Weijian Meng, Hongliang Dong, Zhihong Qi, Liang Liu, Jie Shen, Daxing Xie   +8 more
wiley   +1 more source

DataSheet2_Polymorphisms Within DNA Double-Strand Breaks Repair-Related Genes Contribute to Structural Chromosome Abnormality in Recurrent Pregnancy Loss.ZIP

, 2021
Zhenbo Cheng (4734567), Dehua Cheng (5055158), Jiancheng Li (326041), Lihuang Guo (11870981), Wei Zhang (405), Conghui Zhang (3456536), Yangxu Liu (11870984), Yue Huang (285485), Keqian Xu (11870987)   +8 more
openalex   +2 more sources

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

Advanced Science, EarlyView.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng   +15 more
wiley   +1 more source

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

Advanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang, Meiyun Wang, Peng Zhang, Jingliang Cheng, Longjiang Zhang, Wenzhen Zhu, Shijun Qiu, Zuojun Geng, Guangbin Cui, Yongqiang Yu, Weihua Liao, Xi‐Nian Zuo, Hui Zhang, Bo Gao, Xiaojun Xu, Tong Han, Zhenwei Yao, Quan Zhang, Feng Liu, Qiang Xu, Jiayuan Xu, Jilian Fu, Nana Liu, Yuan Ji, Jie Tang, Lining Guo, Mengge Liu, Xiaoxiao Xiao, Xiaoxuan Liu, Wei Li, Caihong Wang, Wei Wei, Dapeng Shi, Su Lui, Zhihan Yan, Feng Chen, Jing Zhang, Wen Shen, Yanwei Miao, Dawei Wang, Jia‐Hong Gao, Yunjun Yang, Kai Xu, Junfang Xian, Bing Zhang, Xiaochu Zhang, Zhaoxiang Ye, Le Yu, Wen Qin, Meng Liang, Chunshui Yu, the CHIMGEN Consortium   +51 more
wiley   +1 more source

Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma [PDF]

, 2007
Ependymal tumors constitute a clinicopathologically heterogeneous group of brain tumors. They vary in regard to their age at first symptom, localization, morphology and prognosis. Genetic data also suggests heterogeneity.
Chapon, F, Ellison, D, Figarella-Branger, D, Godfraind, C, Lacroix, C, Mikol, J, Palm, T, Rousseau, E, Ruchoux, MM, Salmon, I, Scaravilli, F, Vikkula, M   +11 more
core   +3 more sources

CCDC41 Drives Oocyte Meiotic Progression by Promoting Rab11a/Rab7‐Positive Vesicle Fusion with Target Membranes

Advanced Science, EarlyView.
CCDC41 is essential for meiotic maturation in mouse oocytes through regulating Rab7‐positive endosomes fusion with lysosomes and Rab11a‐positive vesicle fusion with the plasma membrane. Abstract Coiled‐coil domain‐containing protein 41 (CCDC41), a core component of centriolar distal appendages involved in centriole assembly and ciliary vesicle docking,
Ying Tian, Jiatong Li, Jingyi Kang, Xiangning Xu, Bicheng Wang, Shuo Lou, Jingyu Li, Yuying Yang, Yanbing Zhang, Yangzi Zheng, Jing Weng, Yuanjing Liang, Wei Ma   +12 more
wiley   +1 more source

Sole abnormalities of chromosome 7 in myeloid malignancies: Spectrum, histopathologic correlates, and prognostic implications [PDF]

, 2012
Fareeda Taher Nazer Hussain, Edward P. Nguyen, Sania S. Raza, Ryan A. Knudson, Animesh Pardanani, Curtis A. Hanson, Daniel Van Dyke, Ayalew Tefferi   +7 more
openalex   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source