Results 61 to 70 of about 955 (143)

Enabling Access to Novel Bacterial Biosynthetic Potential From ONT Draft Genomic Data

open access: yesMicrobial Biotechnology, Volume 18, Issue 3, March 2025.
We demonstrated that a draft genome assembly obtained using long‐read sequencing is enough for the bioprospection of BGCs, and that it allowed us to successfully clone a novel lanthipeptide BGC into a genome engineering‐ready vector, illustrating the capabilities of this strategy for the discovery of novel natural products.
Marco A. Campos‐Magaña   +2 more
wiley   +1 more source

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

open access: yesScientific Reports, 2017
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD.
Bashayer Al-Mubarak   +18 more
doaj   +1 more source

DNA methylation in cord blood partially mediates the effects of prepregnancy BMI on early childhood offspring BMI

open access: yesObesity, Volume 33, Issue 1, Page 177-189, January 2025.
Abstract Objective We investigated whether prepregnancy BMI (prePregBMI) in women with obesity was associated with differential DNA methylation (DNAm) in cord blood (CB) and whether DNAm may mediate the association of prePregBMI and early childhood BMI z score (BMIz).
Alice Maguolo   +9 more
wiley   +1 more source

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

open access: yes, 2007
Sulfatases are involved in several biological functions such as degradation of macromolecules in the lysosomes. In patients with multiple sulfatase deficiency, mutations in the SUMF1 gene cause a reduction of sulfatase activities because of a ...
TACCHETTI, CARLO   +9 more
core   +2 more sources

Gene-gene and gene-environment interactions influence platinum-based chemotherapy response and toxicity in non-small cell lung cancer patients

open access: yesScientific Reports, 2017
Platinum-based chemotherapy is a major therapeutic regimen of lung cancer. Various single nucleotide polymorphisms (SNPs) reported were associated with platinum-based chemotherapy response and drug toxicity.
Jia-Jia Cui   +6 more
doaj   +1 more source

High‐quality genome of a novel Thermosynechococcaceae species from Namibia and characterization of its protein expression patterns at elevated temperatures

open access: yesMicrobiologyOpen, Volume 13, Issue 5, October 2024.
In this study, the genome of a new thermophilic cyanobacterium, Thermosynechococcaceae cyanobacterium sp. Okahandja, isolated from a hot spring near Okahandja in Namibia, was sequenced. Additionally, cultivations were conducted at elevated temperatures of 40, 50, and 55°C, followed by analyses of the respective adapted proteomes based on the annotated ...
Nathanael D. Arnold   +11 more
wiley   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

open access: yes, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Rosenblatt, David S.   +19 more
core   +1 more source

Mitochondrial Transplantation Promotes Protective Effector and Memory CD4+ T Cell Response During Mycobacterium Tuberculosis Infection and Diminishes Exhaustion and Senescence in Elderly CD4+ T cells

open access: yesAdvanced Science, Volume 11, Issue 36, September 25, 2024.
This study explores mitochondrial transplantation (mito‐transfer) as a method to boost immune responses in CD4+ T cells from aged mice and elderly humans. Mito‐transfer significantly reduces T cell exhaustion during Mycobacterium tuberculosis infections in mice and also reduces markers of exhaustion and senescence in CD4+ T cells isolated from the ...
Colwyn A. Headley   +9 more
wiley   +1 more source

Genetic associations with psychosis and affective disturbance in Alzheimer's disease

open access: yesAlzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 10, Issue 2, April‐June 2024.
Abstract INTRODUCTION Individuals with Alzheimer's disease (AD) commonly experience neuropsychiatric symptoms of psychosis (AD+P) and/or affective disturbance (depression, anxiety, and/or irritability, AD+A). This study's goal was to identify the genetic architecture of AD+P and AD+A, as well as their genetically correlated phenotypes.
Inga Margret Antonsdottir   +34 more
wiley   +1 more source

Drosophila melanogaster models of MPS IIIC (Hgsnat‐deficiency) highlight the role of glia in disease presentation

open access: yesJournal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 340-354, March 2024.
Abstract Sanfilippo syndrome (Mucopolysaccharidosis type III or MPS III) is a recessively inherited neurodegenerative lysosomal storage disorder. Mutations in genes encoding enzymes in the heparan sulphate degradation pathway lead to the accumulation of partially degraded heparan sulphate, resulting ultimately in the development of neurological ...
Laura Hewson   +8 more
wiley   +1 more source

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