Results 81 to 90 of about 2,561,602 (268)
Nature CommunicationsANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects.
Yana Kibalnyk +15 more
doaj +1 more source
Frontiers in Physiology, 2019 Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from a hemizygous perturbation, typically a microdeletion, on the short arm of chromosome four.
Alexandra Mills +6 more
doaj +1 more source
Peroxidase‐Mimicking Nanozymes for Rapid Detection of Infectious Diseases
Advanced Science, EarlyView.Peroxidase‐mimicking nanozymes (PMNs) have emerged as robust and versatile materials for rapid infectious disease diagnostics. This review highlights the rational design and controlled synthesis of PMNs, summarizes key biomarkers relevant to infectious diseases, examines their integration into diverse rapid detection platforms, and highlights ...
Shikuan Shao +5 more
wiley +1 more source
Advanced Intelligent Discovery, EarlyView.This study introduces an affordable machine learning platform for simultaneous dengue and zika detection using fluorine‐doped tin oxide thin films modified with gold nanoparticles and DNA aptamers. Designed for low‐cost, hardware‐limited devices (< $25), the model achieves 95.3% accuracy and uses only 9.4 kB of RAM, demonstrating viability for resource‐
Marina Ribeiro Batistuti Sawazaki +3 more
wiley +1 more source
Gastroenterology Insights, 2016 Mucocele is an uncommon pathology of the vermiform appendix estimated to be seen in 0.2-0.3%. The term mucocele means dilation of the appendix due to mucus, caused either by a benign or a malignant process. Herein, we report the case of a 77-year-old man
Hanen Loukil +3 more
doaj +1 more source
Taxane-induced morphea in a patient with CREST syndrome
Dermatology Reports, 2010 The taxanes, docetaxel and paclitaxel, are microtubule stabilizing chemotherapeutic agents that have demonstrated antineoplastic effects in a variety of solid tumors.
Susan Michele Bouchard +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
Hepatology, EarlyView., 2022 Steatotic HCC can be diagnosed by MRI and forms a pro‐tumor immune microenvironment with high expression of PD‐L1, M2 polarization of macrophages and activation of CAFs, which may be a good target for combined immunotherapy. Abstract Background and Aims Immunotherapy has become the standard‐of‐care treatment for hepatocellular carcinoma (HCC), but its ...
Hiroki Murai +29 more
wiley +1 more source
Induction of Neural Crest Stem Cells From Bardet–Biedl Syndrome Patient Derived hiPSCs
Frontiers in Molecular Neuroscience, 2019 Neural crest cells arise in the embryo from the neural plate border and migrate throughout the body, giving rise to many different tissue types such as bones and cartilage of the face, smooth muscles, neurons, and melanocytes.
William B. Barrell +42 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source