Results 211 to 220 of about 207,610 (292)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies. [PDF]

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Frisby D, Misri G, Naslavsky N, Caplan S.   +3 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Molecular mechanism of ischemic postconditioning in promoting diabetic ischemic brain injury repair via the microRNA‐34a–BDNF–SIX3 signaling axis

Animal Models and Experimental Medicine, EarlyView.
Diabetes combined with ischemic stroke (DMIS) exacerbates brain infarct size and neuronal damage compared to nondiabetic ischemic stroke (IS). This study reveals that microRNA‐34a (miR‐34a) plays a key role in DMIS pathogenesis: miR‐34a directly targets and suppresses brain‐derived neurotrophic factor (BDNF) and Sine oculis homeobox 3 (SIX3), promoting
Ling Zhao, Chunlan Zou, Junxian Li, Yang Yang, Yuanyuan Han, Tingyu Ke   +5 more
wiley   +1 more source

A tissue-engineered human psoriatic skin model: targeting inflammation and glucose metabolism dysregulation in psoriasis using microneedle patches. [PDF]

Front Mol Biosci
Ruel Y, Moawad F, Cortez Ghio S, Brambilla D, Pouliot R.   +4 more
europepmc   +1 more source

IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α

Animal Models and Experimental Medicine, EarlyView.
IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α. Abstract Background The purpose is to define the contribution of the interferon regulatory factor‐1–dual‐specificity tyrosine phosphorylation‐regulated kinase 1α (IRF‐1–DYRK1α) axis to hepatocellular ferroptosis during liver ischemia/reperfusion injury ...
Jinping Zhang, Jinming Zhang, Siyuan Song, Mingyang Li, Liying Sun, Zhijun Zhu, Dongdong Lin   +6 more
wiley   +1 more source

Non-receptor tyrosine kinase signaling pathways and therapeutic implications. [PDF]

Signal Transduct Target Ther
Hossain MDA, Marques Cuoco C, Sodaye SH, Beci J, Belkas K.   +4 more
europepmc   +1 more source

Total Chemical Synthesis of Interleukin‐15 and Interleukin‐2: Taming Protein Hydrophobicity and Aggregation by a Versatile Solubilizing Strategy

Angewandte Chemie, EarlyView.
A reducible solubilizing tag strategy (RST‐2.0) enables the synthesis, purification and ligation of difficult peptides while being readily removable just during folding, which overcomes the common challenges from protein hydrophobicity and aggregation. With this method, we achieved the first total synthesis of native and N‐glycosylated IL‐15 as well as
Jingwen Zeng, Haiyan Zhou, Wang Xia, Hongxiang Wu, Xuechen Li   +4 more
wiley   +2 more sources

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Comparison of Receptor‐Mediated Endocytosis and Its Application to Enhance DNA Transfection by TFAMoplex

Advanced NanoBiomed Research, EarlyView.
We developed an assay to distinguish cellular binding from internalization. Compatible with microscopy and high‐throughput screening, the method identifies ligand‐mediated uptake. Applying top candidates to a protein‐based DNA carrier enhanced transfection efficiency, providing a rational strategy to improve non‐viral gene delivery systems.
David Scherer, Steffen Honrath, Jonas Kurmann, Alexander Klipp, Finn Brigger, Jean‐Christophe Leroux   +5 more
wiley   +1 more source