Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Evolution of DNA Double-Strand Break Repair by Gene Conversion: Coevolution Between a Phage and Restriction-Modification System [PDF]
, 2007 The necessity to repair genome damage has been considered to be an immediate factor responsible for the origin of sex. Indeed, attack by a cellular restriction enzyme of invading DNA from several bacteriophages initiates recombinational repair by gene ...
Horie, R. +3 more
core
Restoration by T4 ligase of DNA sequences sensitive to “flush”-cleaving restriction enzyme [PDF]
, 1977 Monica Mottes +3 more
openalex +1 more source
Enzymes by post—restriction enzyme stability [PDF]
Nature Biotechnology, 2000 Jason R. Clark, John B. March
openaire +3 more sources
Peripheral blood proteome biomarkers distinguish immunosuppressive features of cancer progression
Molecular Oncology, EarlyView.Immune status significantly influences cancer progression. This study used plasma proteomics to analyze benign 67NR and malignant 4T1 breast tumor models at early and late tumor stages. Immune‐related proteins–osteopontin (Spp1), lactotransferrin (Ltf), calreticulin (Calr) and peroxiredoxin 2 (Prdx2)–were associated with systemic myeloid‐derived ...
Yeon Ji Park +6 more
wiley +1 more source
A potential biomarker of cognitive impairment: The olfactory dysfunction and its genes expression
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1884-1897, December 2022., 2022 Abstract Objective Accumulation evidence has reported that olfactory impairment may be an essential clinical marker and predictor of mild cognitive impairment or Alzheimer's disease. Method Participants were enrolled in the population‐based, prospective study in Fuxin county, Liaoning province, China between 2019 and 2021.
Jiayi Song +11 more
wiley +1 more source
Quantification of Unmethylated Insulin DNA Using Methylation Sensitive Restriction Enzyme Digital Polymerase Chain Reaction. [PDF]
Transpl Int, 2022 van de Leemkolk FEM +8 more
europepmc +1 more source
Sites of cleavage by restriction enzymes in viral DNAs: comparison of observed and expected frequencies [PDF]
, 1974 R. A. Elton
openalex +1 more source
Stochastic variation in the FOXM1 transcription program mediates replication stress tolerance
Molecular Oncology, EarlyView.Cellular heterogeneity is a major cause of drug resistance in cancer. Segeren et al. used single‐cell transcriptomics to investigate gene expression events that correlate with sensitivity to the DNA‐damaging drugs gemcitabine and prexasertib. They show that dampened expression of transcription factor FOXM1 and its target genes protected cells against ...
Hendrika A. Segeren +4 more
wiley +1 more source
Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022 Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima +9 more
wiley +1 more source