Results 111 to 120 of about 968,479 (311)

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

Advanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin, Yangchang Zhang, Yang Pu, Duanke Liu, Tao Lei, Kai Ma, Qiyu He, Zheng Dou, Yuze Liu, Dengyuan Liu, Yinge He, Yanshang Wang, Xiaojiao Zheng, Yanbing Ma, Jianrong Zhou, Weiding Zhai, Binbin Su, Li Chen, Shoujun Li   +18 more
wiley   +1 more source

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

Fostering continuous quality improvement in a European rare disease network: Where are we now?

Orphanet Journal of Rare Diseases
Background The European Reference Network for rare Inherited and Congenital Anomalies (ERNICA) aims to improve care for patients with rare and complex digestive and gastrointestinal diseases across Europe through cross-border collaboration. In a previous
Linde Margriet van der Kamp, Sara Román Galdrán, Willemijn F. E. Irvine, Daniel Rossi, Romee van Steekelenburg, ERNICA Representatives, René M. H. Wijnen, Erwin Ista, Olivia K. C. Spivack   +8 more
doaj   +1 more source

Surgical repair of a pseudocoarctation with cervical aortic arch complicated by multiple aneurysms of the aorta: a case report

The Pan African Medical Journal, 2017
Aortic pseudocoarctation is a rare congenital anomaly characterized by elongation and deformity of the aortic arch and is known to be associated with aneurysmal formation.
Said Makani, Julia Mitchell, Olivier Metton, Sylvie Di Filippo, Roland Henaine, Jean Ninet   +5 more
doaj   +1 more source

Macrophage Dab1 Links Early Hypoxia to Adaptive Angiogenesis to Drive Peripheral Nerve Repair

Advanced Science, EarlyView.
Schematic diagram illustrating the Dab1‐linked hypoxia signaling pathway that accelerates angiogenesis and consequent nerve regeneration. Following PNI, a hypoxic microenvironment develops. Hypoxia induces macrophage Dab1 phosphorylation, resulting in NHE‐1 upregulation, HIF‐1α stabilization, and VEGF‐A expression. This cascade promotes angiogenesis in
Xiongyao Zhou, Fan Zhang, Jiangbo Wang, Huiyuan Wang, Zongqiang Wang, Qianqian Wang, Chuikai Meng, Jialu Sun, Han Wang, Weiye Li, Ziyi Zhao, Le Qi, Xiaosong Gu, Shusen Cui, Rangjuan Cao   +14 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

Fontan Failure: Current State of the Art in Mechanical Circulatory Support and Transplantation

Children
The Fontan procedure has rewritten the natural history of many children with congenital heart disease and univentricular physiology. However, long-term survival is limited by the development of haemodynamic and multisystem failure, leading to high ...
Rosaria Barracano, Gabriele De Palma, Claudia Montanaro, Vito Casale, Nunzia Borrelli, Antonella Bruna Cutrì, Micol Rebonato, Ippolita Altobelli, Gianfranco Butera, Giancarlo Scognamiglio, Berardo Sarubbi   +10 more
doaj   +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

Changes in waiting time, need for mechanical circulatory support and outcomes in paediatric heart transplant recipients

ESC Heart Failure
Aims Heart transplantation is a well‐established treatment for end‐stage heart failure in paediatric patients, demonstrating excellent long‐term outcomes. Methods This retrospective study analyses 35 years of data on 244 paediatric recipients (
Lisa‐Maria Rosenthal, Annemarie Krauss, Oliver Miera, Friederike Danne, Fatima Lunze, Mi‐Young Cho, Joachim Photiadis, Felix Berger, Katharina Schmitt   +8 more
doaj   +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