Results 71 to 80 of about 32,053 (264)
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu +3 more
wiley +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
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
BMEMat, EarlyView.This study reports the development of AMS@Eud core‐shell microspheres, combining calcium alginate and pH‐responsive Eudragit® L100, which exhibit exceptional gastrointestinal resistance and long‐term storage stability (only 5.28%–9.09% viability loss over 35 days at 4–25°C), and effectively alleviate inflammatory bowel disease via gut microbiota ...
Ming Teng +5 more
wiley +1 more source
Harnessing blood clot as a native scaffold for orchestrating tissue repairs and regeneration
BMEMat, EarlyView.The blood clot, owing to its dynamic composition and unique microenvironment, holds significant yet underappreciated potential for tissue engineering. This review systematically summarizes the pathophysiology of clot formation, the key regulatory factors shaping its microenvironment, and its applications in both pre‐clinical and clinical settings ...
Gao‐peng Dang +13 more
wiley +1 more source
Current perspectives on risk factors for premature rupture of membranes
Фундаментальная и клиническая медицинаAim. To summarize factors that may lead to premature rupture of membranes through the literature analysis. Materials and Methods. A search was conducted in the PubMed database using the keywords: "prelabor rupture of membranes" and "premature rupture of ...
A. O. Veys, O. N. Novikova
doaj +1 more source
Carbon Energy, EarlyView.Beyond the hype surrounding the self‐healing properties of gallium‐based liquid metals (Ga‐LMs), this perspective critically examines their functional roles in metal‐ion batteries, highlighting both their underlying merits and the often‐overlooked challenges, including non‐representative design and testing configurations, performance overestimations ...
Turly P. P. Sumanasekara +7 more
wiley +1 more source
RISIKO TERJADINYA KETUBAN PECAH DINI PADA IBU HAMIL DENGAN INFEKSI MENULAR SEKSUAL
Jurnal Vokasi Kesehatan, 2016 : Premature Rupture Of Membranes Risks Of Pregnant Women With Sexual Infections. The purpose of research is to analyze the correlation between the risks of sexually transmitted infection with the incidence of premature rupture of membranes (KPD).This ...
Sudarto Sudarto, Tunut Tunut
doaj
Developmental Dynamics, EarlyView.Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane +4 more
wiley +1 more source