Results 161 to 170 of about 198,582 (348)

Genotype networks, innovation, and robustness in sulfur metabolism [PDF]

open access: yesarXiv, 2010
Metabolic networks are complex systems that comprise hundreds of chemical reactions which synthesize biomass molecules from chemicals in an organism's environment. The metabolic network of any one organism is encoded by a metabolic genotype, defined by a set of enzyme-coding genes whose products catalyze the network's reactions. Each metabolic genotype
arxiv  

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay

open access: yesHeliyon, 2022
Background: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation of ...
Eliana Benincore-Flórez   +6 more
doaj  

The untapped power of a general theory of organismal metabolism [PDF]

open access: yesarXiv
What makes living things special is how they manage matter, energy, and entropy. A general theory of organismal metabolism should therefore be quantified in these three currencies while capturing the unique way they flow between individuals and their environments. We argue that such a theory has quietly arrived -- 'Dynamic Energy Budget' (DEB) theory --
arxiv  

Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke   +2 more
wiley   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt   +2 more
wiley   +1 more source

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism

open access: yesThe Turkish Journal of Pediatrics, 2019
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental ...
Halil İbrahim Aydın   +1 more
doaj   +1 more source

Critical dynamics of gene networks is a mechanism behind ageing and Gompertz law [PDF]

open access: yesarXiv, 2015
Although accumulation of molecular damage is suggested to be an important molecular mechanism of aging, a quantitative link between the dynamics of damage accumulation and mortality of species has so far remained elusive. To address this question, we examine stability properties of a generic gene regulatory network (GRN) and demonstrate that many ...
arxiv  

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

open access: yesScientific Reports, 2019
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases.
Alexandra Bower   +6 more
doaj   +1 more source

Topological Quantum Computation and Error Correction by Biological Cells [PDF]

open access: yesarXiv, 2005
A Topological examination of phospholipid dynamics in the Far from Equilibrium state has demonstrated that metabolically active cells use waste heat to generate spatially patterned membrane flows by forced convection and shear. This paper explains the resemblance between this nonlinear membrane model and Witten Kitaev type Topological Quantum ...
arxiv  

The role of exome sequencing in newborn screening for inborn errors of metabolism

open access: yesNature Network Boston, 2020
Aashish N. Adhikari   +23 more
semanticscholar   +1 more source

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