Results 61 to 70 of about 145,125 (343)
Monogenic Adult-Onset Inborn Errors of Immunity
Frontiers in Immunology, 2021 Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system.
F. Staels +8 more
semanticscholar +1 more source
Interactivist approach to representation in epigenetic agents [PDF]
, 2003 Interactivism is a vast and rather ambitious philosophical and theoretical system originally developed by Mark Bickhard, which covers plethora of aspects related to mind and person.
Kulakov, Andrea, Stojanov, Georgi
core
The role of histone modifications in transcription regulation upon DNA damage
FEBS Letters, EarlyView.This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley +1 more source
Genetic Mosaicism as a Cause of Inborn Errors of Immunity
Journal of Clinical Immunology, 2021 Inborn errors of immunity (IEIs) are a heterogeneous group of disorders due to genetic defects in the immune response that have a broad clinical spectrum.
Jahnavi Aluri, M. Cooper
semanticscholar +1 more source
Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]
, 2006 Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth +2 more
core +1 more source
The newfound relationship between extrachromosomal DNAs and excised signal circles
FEBS Letters, EarlyView.Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
Journal of Experimental Medicine, 2021 The authors report inborn error of TLR3 or MDA5 in two unrelated children with enterovirus rhombencephalitis. TLR3 and MDA5 may control anti-enterovirus immunity in central nervous system cells via the maintenance of basal or virus-induced type I IFN ...
Jie Chen +19 more
semanticscholar +1 more source
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
Communications Biology, 2021 The identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology.
R. V. van Outersterp +16 more
semanticscholar +1 more source