Results 71 to 80 of about 13,572 (204)
Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency [PDF]
Pediatric Rheumatology, 2015 Results Case 1 A pediatric case with splenomegaly, cervical lymphoadenopathy, failure to thrive and anemia, was found to have two pathogenic MVK variants, p.V250I and p. L315G*51, and the Q705K variant on the NLRP3 gene, considered a functional polymorphism.
Shinar, Y +7 more
openaire +1 more source
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency [PDF]
, 2010 Mevalonate kinase deficiency (MKD) is an autoinflammatory disorder caused by mutations in the MVK gene resulting in decreased activity of the enzyme mevalonate kinase (MK).
Turkenburg, M. +9 more
core +1 more source
Biomarker Research, 2018 Background Aggressive natural killer cell leukemia is a devastating disease, with an average patient survival time of less than 2 months following diagnosis.
Austin B. Henslee, Timothy A. Steele
doaj +1 more source
STAT3 and mutp53 Engage a Positive Feedback Loop Involving HSP90 and the Mevalonate Pathway
Frontiers in Oncology, 2020 Oncosuppressor TP53 and oncogene STAT3 have been shown to engage an interplay in which they negatively influence each other. Conversely, mutant (mut) p53 may sustain STAT3 phosphorylation by displacing SH2 phosphatase while whether STAT3 could influence ...
Maria Anele Romeo +11 more
doaj +1 more source
The FEBS Journal, EarlyView.Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo +4 more
wiley +1 more source
When to consider an inborn error of immunity: clues for physicians
Internal Medicine Journal, EarlyView.Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
Mevalonic Acid Kinase in Euglena gracilis [PDF]
Plant Physiology, 1967 The isolation and partial purification of mevalonic acid kinase from Euglena gracilis is described. The product of the reaction MVA-5-P has been characterized by paper chromatography. The apparent Km values for l-mevalonic acid, ATP, and Mg(2+) are 3 x 10(-5)m, 6 x 10(-3)m, and 9 x 10(-3)m, respectively.
C Z, Cooper, C R, Benedict
openaire +2 more sources
Tissue Resident Memory Cells: Friend or Foe?
Immunology, EarlyView.Tissue‐resident memory T cells (TRM cells) are specialised immune cells in barrier tissues like the lungs, skin and gut, providing rapid host defence and tumour surveillance. Their retention and differentiation are regulated by molecules such as CD69, CD103 and TGF‐β. Dysregulation of TRM cells can lead to chronic activation, driving conditions such as
Chidimma F. Chude +2 more
wiley +1 more source
Frontiers in MedicineBackgroundPorokeratosis (PK) is an autosomal dominant inherited disorder characterized by abnormal epidermal keratinization, primarily resulting from mutations in four genes associated with the mevalonate pathway: mevalonate decarboxylase (MVD ...
Yang He +7 more
doaj +1 more source
Towards an integrated molecular understanding of plant hormones
Journal of Integrative Plant Biology, EarlyView.This review offers a comprehensive overview of the nine plant hormones, delving into their biosynthesis, transport, signaling and crosstalk mechanisms. Because the complexity of plant hormonal control goes beyond these core elements, additional specific features are discussed. Lastly, this review highlights how fundamental insights drive hormonal‐based
Louise Vilain +2 more
wiley +1 more source