Results 61 to 70 of about 632,786 (261)
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case
Clinical Case ReportsWe report the case of a 13‐month‐old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic ...
Giavanna Verdi +6 more
doaj +1 more source
iScienceSummary: Endometriosis affects a substantial number of women of reproductive age, yet current diagnostic methods rely on invasive procedures. To address this limitation, we investigated THBS1 as a potential biomarker and regulator of disease progression.
Liqi Zhang +6 more
doaj +1 more source
Clinical Case Reports, 2017 Key Clinical Message 15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic ...
Dina F. Ahram +6 more
doaj +1 more source
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
FEBS Letters, EarlyView.Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source
iScienceSummary: Anorectal malformations (ARMs) are congenital anomalies affecting the anus and rectum, with a global incidence of 1 in 5,000 live births. Despite clinical advancements, the genetic basis of ARMs remains largely unknown.
Vandana Suseelan +9 more
doaj +1 more source
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
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data
iScienceSummary: Preterm birth (birth before 37 weeks) is a major cause of neonatal mortality and is linked to various health adversities in childhood and adult life. This study investigates the genetic factors contributing to spontaneous preterm birth (sPTB) in
Esha Bhattacharjee +13 more
doaj +1 more source
FEBS Letters, EarlyView.In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai +9 more
wiley +1 more source