Results 91 to 100 of about 917,291 (368)
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 +2 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 +10 more
wiley +1 more source
Finite groups of arbitrary deficiency [PDF]
Bull. London Math. Soc. 49 (2017) 1100-1104, 2017 The deficiency of a group is the maximum over all presentations for that group of the number of generators minus the number of relators. Every finite group has non-positive deficiency. We show that every non-positive integer is the deficiency of a finite group -- in fact, of a finite $p$-group for every prime $p$.
arxiv +1 more source
Dietary intake, nutritional status and mental wellbeing of homeless adults in Reading, UK [PDF]
, 2017 Malnutrition has been reported in the homeless, yet the specific nutritional issues faced by each homeless community are unclear. This is in part due to nutrient intake often being compared with dietary reference values as opposed to a comparative housed
Charlotte Mortin +12 more
core +2 more sources
Does taking vitamin, mineral and fatty acid supplements prevent cognitive decline? A systematic review of randomized controlled trials [PDF]
, 2008 Background Observational studies have shown associations between nutritional status and cognition in later life but evidence from intervention studies is unclear.
Avenell, Alison, Jia, X, McNeill, G
core +1 more source
Reaction of the NAD(P)H:flavin oxidoreductase from Escherichia coli with NADPH and riboflavin: identification of intermediates [PDF]
Biochemistry, American Chemical Society, 1998, 37, pp.11879-87, 2014 Flavin reductase catalyzes the reduction of free flavins by NAD(P)H. As isolated, Escherichia coli flavin reductase does not contain any flavin prosthetic group but accommodates both the reduced pyridine nucleotide and the flavin substrate in a ternary complex prior to oxidoreduction.
arxiv
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2
Journal of Child Neurology, 2019 Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to ...
Fatima Amir +6 more
semanticscholar +1 more source
Mucosal‐associated invariant T cells in rheumatic diseases.
Arthritis &Rheumatology, Accepted Article.Mucosal‐associated invariant T (MAIT) cells are innate‐like T cells defined by their semi‐invariant T cell receptor (TCR) and restriction by the MHC class I‐related molecule (MR1). These cells are primarily activated by microbial‐derived metabolites presented by MR1 or by cytokines. Upon activation, MAIT cells rapidly produce pro‐inflammatory cytokines,
Manon Lesturgie‐Talarek +7 more
wiley +1 more source
A Computational Approach for Identifying Plant-Based Foods for Addressing Vitamin Deficiency Diseases [PDF]
, 2015 Vitamins are nutrients that are essential to human health, and deficiencies have been shown to cause severe diseases. In this study, a computational approach was used to identify vitamin deficiency diseases and plant-based foods with vitamin content ...
Sarkar, Indra Neil, Yu, Christina
core +1 more source
Atomic Structures of Riboflavin (Vitamin B2) and its Reduced Form with Bond Lengths Based on Additivity of Atomic Radii [PDF]
arXiv, 2008 It has been shown recently that chemical bond lengths, in general, like those in the components of nucleic acids, caffeine related compounds, all essential amino acids, methane, benzene, graphene and fullerene are sums of the radii of adjacent atoms constituting the bond.
arxiv