Results 51 to 60 of about 13,344 (266)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
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, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Step Test for Rapid Screening of Material and Process Parameters for Resin Development in DLP 3D Printing

Angewandte Chemie International Edition, EarlyView.
We present an efficient and rapid step test for determining optimum printing parameters in digital light processing (DLP). It enables the testing of 24 printing parameter settings within one print, is easy to implement, and adaptable to other UV polymerization‐based printing methods, thus speeding up the time from resin screening to optimal printing ...
Michelle Vigogne, Cosima Aeschbach, Ricardo Bernhardt, Anika Kaufmann, Julian Thiele   +4 more
wiley   +1 more source

Mucosal‐Associated Invariant T Cells in Rheumatic Diseases

Arthritis &Rheumatology, EarlyView.
Mucosal‐associated invariant T (MAIT) cells are innate‐like T cells defined by their semi‐invariant T cell receptor and restriction by the major histocompatibility complex class I–related molecule (MR1). These cells are primarily activated by microbial‐derived metabolites presented by MR1 or by cytokines.
Manon Lesturgie‐Talarek, Virginie Gonzalez, Lucie Beaudoin, Noémie Sénot, Corinne Miceli‐Richard, Yannick Allanore, Agnès Lehuen, Jerôme Avouac   +7 more
wiley   +1 more source

Ethnomedicinal Uses, Phytochemistry, Pharmacological Activities, and Toxicology of the Subfamily Gomphrenoideae (Amaranthaceae): A Comprehensive Review

Chemistry &Biodiversity, EarlyView.
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, Giulia Cristina de Andreoli Souza, Alvaro Jose Hernandez Tasco, Marcos José Salvador   +3 more
wiley   +1 more source

Antiaging, Wound‐Healing Properties and Chemical Characterization of Crude Hydroalcoholic Extract and Fractions of Myrcia neoobscura

Chemistry &Biodiversity, EarlyView.
ABSTRACT The aim of this study was to characterize the phytochemical profile and potential antiaging and wound‐healing activities of 70% hydroalcoholic crude extract (CHE) from Myrcia neoobscura leaves and its fractions—insoluble (IF), ethyl acetate (EAF), and aqueous (AF)—for use in phytocosmetics for skin application.
Larissa Mascarenhas Krepsky, Ana Helena Loos Moritz, Mayra Alice Corrêa Pitz, Letícia Bachmann, Diogo Alexandre Siebert, Paula Flegar, Stjepan Lešnjak, Ana Tirić, Amanda Tavares Germano, Mayara da Silva, Carlos Rafael Vaz, Larissa Benvenutti, André Luís de Gasper, José Roberto Santin, Isabel Daufenback Machado, Luciano Vitali, Marijana Zovko Končić, Michele Debiasi Alberton   +17 more
wiley   +1 more source

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

Annals of Clinical and Translational Neurology, 2020
Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood‐onset motor neuron disease (MND) with hearing loss, formerly described as Brown‐Vialetto‐Van‐Lear syndrome.
Christophe Carreau, Timothée Lenglet, Isabelle Mosnier, Ghizlene Lahlou, Guillaume Fargeot, Nicolas Weiss, Sophie Demeret, François Salachas, Alice Veauville‐Merllié, Cécile Acquaviva, Yann Nadjar   +10 more
doaj   +1 more source

Riboflavin-responsive complex I deficiency

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
Three patients from a large consanguineous family, and one unrelated patient had exercise intolerance since early childhood and improved by supplementation with a high dosage of riboflavin. This was confirmed by higher endurance power in exercise testing.
Jan M. Bogaard, I. E. M. Luyt-Houwen, L. Kuyt, Henk D. Bakker, H.F.M. Busch, Hans R. Scholte   +5 more
openaire   +3 more sources

Robotic‐Assisted Capture‐Systematic Evolution of Ligands by Exponential Enrichment of RNA Aptamers Binding to Small Molecules

ChemBioChem, EarlyView.
This study demonstrates the rapid selection of RNA aptamers that can target various small molecules through a newly established automated capture‐systematic evolution of ligands by exponential enrichment technique. Throughout the study, this method is applied to aptamer selection for several small molecules, resulting in aptamers that bind with high ...
Tjasa Legen, Günter Mayer
wiley   +1 more source