DQA1*05:13 differs from DQA1*05:05:01:04 by one nucleotide substitution at position 37 in exon 1.
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http://dx.doi.org/10.1111/tan.14251 | DOI Listing |
Int Urol Nephrol
December 2024
Nishtar Medical University, Multan, Pakistan.
Renal fibrosis is a hallmark of chronic kidney disease, characterized by the excessive accumulation of extracellular matrix proteins. Sulforaphane, a potent antioxidant found in cruciferous vegetables, has shown promise in targeting renal fibrosis. By inhibiting fibrotic pathways, such as TGF-β signaling, and promoting antioxidant defenses, sulforaphane may offer a novel therapeutic strategy for mitigating kidney damage and slowing disease progression.
View Article and Find Full Text PDFJ Biomol Struct Dyn
December 2024
Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Biruni University, Istanbul, Türkiye.
The increasing global prevalence of Alzheimer's disease necessitates the development of novel therapeutic approaches. Neurodegenerative diseases are associated with increased oxidative stress and levels of cholinesterase enzymes. Hence, the development of cholinesterase inhibitors and antioxidants may provide neuroprotective effects.
View Article and Find Full Text PDFGenet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Pediatr Dermatol
December 2024
Department of Health Sciences, University of Florence, Florence, Italy.
Pili trianguli et canaliculi syndrome is a rare hair shaft disorder characterized by frizzy hair that cannot be smoothed flat. Affected hair shafts are triangular or kidney-shaped with longitudinal grooving. Diagnosis typically requires electron microscopy, which may be cost-prohibitive, or alternatively, the distinctive features of hair shafts can be identified through histological examination of cross sections, that is time-consuming.
View Article and Find Full Text PDFAngew Chem Int Ed Engl
December 2024
East China Normal University, School of Chemistry and Molecular Engineering, 3663 N. Zhongshan Rd., 200062, Shanghai, CHINA.
We present a novel electrochemical dicarboxylation of epoxides with CO2, characterized by the cleavage of two C-O single bonds. Not only are vinyl epoxides viable, but cyclic carbonates also serve as effective substrates, facilitating the synthesis of E-configured adipic and octanedioic acids with high chemo-, regio-, and stereoselectivity. The synthetic practicality is further highlighted by the diverse functionalizations of the resulting multifunctional diacids.
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