Results 141 to 150 of about 4,339,803 (292)
Advanced Science, EarlyView.Subarachnoid hemorrhage (SAH) triggers monocyte‐derived macrophage (MDM) infiltration and M1‐like polarization via Vimentin upregulation, leading to neurovascular unit disruption and cognitive dysfunction. Remote ischemic postconditioning (RIPostC) upregulates neuronal Gas6, which activates Axl on MDMs to downregulate Vimentin and drive reparative M2 ...
Yajun Zhu +14 more
wiley +1 more source
Advanced Science, EarlyView.This study reveals that 5'tiRNA‐Gln interacts with hnRNPC to promote IGF1R liquid‐liquid phase separation, which drives ERK1/2 signaling activation, EMT, and breast cancer bone metastasis. These findings highlight a novel mechanism of breast cancer bone metastasis and potential therapeutic target in metastatic breast cancer.
Bingnan Wang +9 more
wiley +1 more source
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 +9 more
wiley +1 more source
Advanced Science, EarlyView.Where and when should a cancer vaccine be administered? A whole‐body PBPK model demonstrates that systemic immune transport critically determines vaccination efficacy. By simulating how organ‐specific immune interactions influence treatment response, the study provides a quantitative framework for optimizing cancer vaccination strategies.
Mohammad R. Nikmaneshi +2 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Journal of Tehran University Heart Center, 2015 The optimal treatment method for right ventricular failure after valve surgery complicated by a low cardiac output has not been determined, although several case reports have been published on patients with ventricular failure and arrhythmia who were ...
AbdolRasoul Moulodi +2 more
doaj
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Right Ventricular Failure From Malignant Pulmonary Artery Compression. [PDF]
JACC Case RepArce-Sandoval CR +7 more
europepmc +1 more source