Results 291 to 300 of about 249,320 (341)

Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of ANKH causes self‐limited familial infantile epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.‐11C>T change upstream of the gene's normal ATG initiation codon of ...
Josua Kegele   +7 more
wiley   +1 more source

Differences between hepatitis C virus 5' untranslated region quasispecies in serum and liver.

open access: bronze, 1999
Soojin Jang   +4 more
openalex   +1 more source

Unraveling the functional dynamics of Caenorhabditis elegans stress‐responsive omega class GST‐44

open access: yesThe FEBS Journal, EarlyView.
Omega‐class glutathione S‐transferases (GSTs) are integral to redox regulation and cellular stress responses. This study characterized GST‐44 in Caenorhabditis elegans, revealing its predominant expression in the intestine and excretory H‐cell, with significant upregulation under various stress conditions.
Charlotte Sophia Kaiser   +9 more
wiley   +1 more source

Conserved function of a RasGEF‐mediated pathway in the metabolic compensation of the circadian clock

open access: yesThe FEBS Journal, EarlyView.
Metabolic compensation of the circadian clock is essential for stabilizing the period of endogenous timekeeping in environments with significant nutrient fluctuations. In this study, we demonstrate that RasGEF (SOS1)‐mediated signaling, which is influenced by metabolic conditions, supports the robust function of the circadian clock under low glucose ...
Orsolya Sárkány   +6 more
wiley   +1 more source

Influence of HLA-G 3' Untranslated Region Haplotypes and SNP +3422 Gene Variants as Host Genetic Factors on the Outcomes of SARS-CoV-2 Infection During Acute and Post-Acute Phases in a German Cohort. [PDF]

open access: yesHLA
Rohn H   +22 more
europepmc   +1 more source

Human FASTK preferentially binds single‐stranded and G‐rich RNA

open access: yesThe FEBS Journal, EarlyView.
Although FASTK is known to play a role in mRNA biology, the mechanism through which it recognizes RNA has yet to be unraveled. Here, we used purified human FASTK to characterize its RNA‐binding properties in vitro. We found that FASTK prefers ssRNA oligonucleotides containing guanines with the potential to form G‐quadruplexes and binds robustly to any ...
Daria M. Dawidziak   +7 more
wiley   +1 more source

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