Results 121 to 130 of about 5,873,224 (308)

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

CHD8‐Dependent Chromatin Licensing Sustains Trophoblast Stem Cell Transcriptional Programs

Advanced Science, EarlyView.
In this study, Huang et al., identify chromatin remodeler CHD8 as an essential factor in TSC maintenance and placental development. CHD8‐dependent chromatin accessibility supports the occupancy of key trophoblast TFs and is coupled to KMT2A‐associated H3K4me3 deposition at TSC stem and cell cycle genes, providing a permissive chromatin environment for ...
Yuanyuan Huang, Zhenhua Hu, Jiali Liao, Lijun Huang, Jinyu Liu, Chen Tu, Yuchen Li, Lulu Xie, Shilei Bi, Xiaobo Fang, Jingsi Chen, Lili Du, Wei Sun, Haibin Wang, Shuang Zhang, Dunjin Chen, Zhaowei Tu   +16 more
wiley   +1 more source

Impact of Tricuspid Regurgitation Severity on Accuracy of Echocardiographic Estimation of Systolic Pulmonary Artery Pressure in Patients With Pulmonary Arterial Hypertension

Cardiology Discovery
Objective:. This study aims to investigate the impact of tricuspid regurgitation (TR) severity on the accuracy of echocardiographic estimation of systolic pulmonary arterial pressure (sPAP) in patients with pulmonary arterial hypertension (PAH). Methods:.
Jiawang Xiao, Jianming Wang, Shuai Huang, Jingsong Geng, Lili Meng, Zhongchao Wang, Qiguang Wang   +6 more
doaj   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 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

Histological assessment of the intramural segment in adults with an anomalous aortic origin of a coronary artery with an interarterial course

BMC Cardiovascular Disorders
Background An intramural course in an anomalous aortic origin of a coronary artery (AAOCA) is a high-risk feature for sudden cardiac death (SCD). One of the proposed mechanisms for this association involves a “flap valve” effect in the intramural segment.
Diederick B.H. Verheijen, Tamara C. Borsboom, Philippine Kiès, Anastasia D. Egorova, Lambertus J. Wisse, Dave R. Koolbergen, Léon M. Putman, Mark G. Hazekamp, Roel L.F. van der Palen, J. Wouter Jukema, Ryan E. Accord, Hubert W. Vliegen, Marco C. de Ruiter, Monique R.M. Jongbloed   +13 more
doaj   +1 more source

An Adenoviral‐Vectored Tp0326 Vaccine Elicits Robust Functional Antibodies to Prevent Treponema pallidum Dissemination in a Rabbit Model

Advanced Science, EarlyView.
Vaccination promotes cellular infiltration into primary lesions and effectively inhibits T. pallidum dissemination to distal organs. Notably, transfer of lesion tissue from immunized animals fails to establish infection in naive recipients, confirming specific protective immunity.
Yinbo Jiang, Xinyuan Li, Lixia Huang, Xiangcai Zhang, Wujian Ke   +4 more
wiley   +1 more source

Alkylating Agent–Induced FANCL Impairment Damages Pulmonary Arterial, Venous, and Microvascular Endothelial Cells and Predisposes to PAH/PVOD

Advanced Science, EarlyView.
This study establishes a novel cisplatin‐induced rat model of PAH/PVOD and identifies a conserved mechanistic axis—FANCL impairment, DNA damage accumulation, and endothelial dysfunction—triggered by cisplatin or mitomycin C across pulmonary arteries, veins, and microvessels.
Shiyun Liu, Yufei Sun, Xinlei Wu, Haixia Chen, Shaocong Mo, Zichong Li, Yiwei Gong, Xiaoqian Shan, Yuanqi Li, Yaru Guan, Junqi Zhu, Han Yan, Min Du, Feng Wei, Peixin Ou, Ziyi Wang, Chenting Zhang, Lei Xu, Wenju Lu, Jian Wang, Kai Yang   +20 more
wiley   +1 more source

Aortic valve neo-cuspidation using the Ozaki technique for acquired and congenital disease: where does this procedure currently stand? [PDF]

Indian J Thorac Cardiovasc Surg, 2020
Baird CW, Marathe SP, Del Nido PJ.
europepmc   +1 more source