Results 31 to 40 of about 152,478 (263)
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid+16 more
wiley +1 more source
Diglycerides of Natural Phenols and Organic Acids for Enhanced Biological Activities
Diglycerides of natural organic acids and phenols were synthesized regio‐selectively. Diglycerides are structurally similar to cell membranes and are expected to exhibit cell affinity and permeability. The flexible glycerol linkers allow the diglycerides to exhibit not only the physiological activities of each constituent organic acid but also the ...
Jisu Hong+10 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel+10 more
wiley +1 more source
Objective This study aims to assess the risk of noninfectious uveitis (NIU) relapse in pediatric patients undergoing adalimumab (ADA) tapering, evaluating potential predictors of such risk. Methods We conducted a multicenter retrospective cohort study involving pediatric patients with NIU who underwent ADA tapering due to inactive uveitis.
Achille Marino+31 more
wiley +1 more source
ABSTRACT Diabetes mellitus (DM), which can result in a number of problems such as cataracts, neuropathy, retinopathy, nephropathy, and several cardiovascular illnesses, continues to be a growing issue despite major advancements in treatment approaches.
Ahmet Esat Göner, Hatice Esra Duran
wiley +1 more source
Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen+7 more
wiley +1 more source
ABSTRACT The subfamily Gomphrenoideae is composed of about 480 accepted species, many of which have been historically used as medicinal plants, reason why they have been studied in terms of chemical profile, biological activity, and safety. This review consolidates the advances in research on this subfamily over the past 47 years, emphasizing its ...
Dayanna Isabel Araque Gelves+3 more
wiley +1 more source
Aging and Color Vision: A Model Using the Farnsworth‐MUNSELL 100‐Hue Test
ABSTRACT Introduction This study examined the theoretical changes in the FM100 Hue scores induced by age‐related changes in the ocular media transmittance. These changes were analyzed with and without a von Kries‐type chromatic adaptation to determine the role of this adaptation process on age‐related changes in hue discrimination.
Victor Opoku‐Yamoah+2 more
wiley +1 more source
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson+2 more
wiley +1 more source