Results 141 to 150 of about 3,192,378 (312)

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang   +7 more
wiley   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini   +9 more
wiley   +1 more source

Chromosome territory position and active relocation in normal and hutchinson-gilford progeria fibroblasts [PDF]

open access: yes, 2009
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Radial chromosome positioning in interphase nuclei is non-random and can alter according to developmental, differentiation, proliferation or disease status.
Mehta, Ishita Shailesh
core   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

Development and validation of sex-linked molecular markers for rapid and accurate identification of male and female Hippophae tibetana plants

open access: yesScientific Reports
Hippophae tibetana, one of the highest-altitude woody plants endemic to the Qinghai-Tibet Plateau, primarily thrives on riverbanks formed by glacial meltwater.
Zhefei Zeng   +7 more
doaj   +1 more source

Chemical Screening Identifies Danofloxacin as a Self‐Renewal Agonist of Embryonic Stem Cells through Alleviation of HDAC1‐Mediated Deacetylation of Tert and Prdm10

open access: yesAdvanced Science, EarlyView.
This study identified Danofloxacin as a novel supporter of the maintenance of mouse embryonic stem cell (ESC) pluripotency. It functions partially by inhibiting HDAC1, which increases specific histone acetylation marks and activates key genes like Tert and Prdm10.
Yan Zhang   +8 more
wiley   +1 more source

Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries

open access: yesAdvanced Science, EarlyView.
The burden quantitative trait locus (bQTL) analysis integrates epidemiological data from GBD study with genotype of 2 621 978 SNPs from 2414 individuals in 1000 Genomes Project across 20 countries. rs7633471 shows the strongest effect that each increase in centi‐allele frequency of the allele C associated with 10.00 decrease of age‐standardized ...
Chen Sun   +27 more
wiley   +1 more source

Polymorphisms for the size of heterochromatic regions allow sex-independent quantification of post-BMT chimerism targeting metaphase and interphase cells

open access: yesHaematologica, 1999
BACKGROUND AND OBJECTIVE: Fully quantitative cytological techniques for the analysis of hemopoietic chimerism are very limited and largely restricted to sex-chromosome detection after sex-mismatched bone marrow transplants (BMTs).
I Buno   +4 more
doaj  

Identification of Freemartins by Chromosomal Analysis

open access: yesJournal of Dairy Science, 1966
M S, Herschler   +2 more
openaire   +2 more sources

Mitochondria and Neuromast Tagging With Fluorescent Gallium‐Triapine Analogues: In Cellulo MP FLIM and Zebrafish Live Imaging

open access: yesAdvanced Science, EarlyView.
Fluorescent BODIPY‐conjugated thiosemicarbazone ligands and their Ga(III), In(III), and Fe(III) complexes, inspired by Triapine, are developed as theranostic agents. Multiphoton FLIM and confocal microscopy in cancer cells and zebrafish reveal real‐time uptake, mitochondrial localisation, and whilst spectroscopic assays indicated preserved complex ...
Megan J. Green   +15 more
wiley   +1 more source

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