Results 81 to 90 of about 9,132 (188)
Isoprenoid biosynthesis in the erythrocytic stages of Plasmodium falciparum [PDF]
The development of new drugs is one strategy for malaria control. Biochemical pathways localised in the apicoplast of the parasite, such as the synthesis of isoprenic precursors, are excellent targets because they are different or absent in the human ...
JORDÃO, Fabiana Morandi +2 more
core +3 more sources
ABSTRACT While the efficacy of canakinumab, an anti‐interleukin‐1β monoclonal antibody, is well‐established, its safety profile, particularly across different age groups, remains inadequately explored. Using the FDA Adverse Event Reporting System (FAERS) database, this study evaluated postmarketing safety by analyzing adverse event (AE) reports from ...
Youyang Wang +3 more
wiley +1 more source
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen +16 more
wiley +1 more source
The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme.
Pınar Gençpınar +4 more
doaj
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome
We describe a case of Mevalonate Kinase Deficiency (MKD) also known as Hyperimmunoglobulinemia D Syndrome (HIDS) presenting as a Sweet-like syndrome in a 5-week-old with multiple erythematous plaques, fever, aseptic meningitis, and bronchiolitis.
Sarah Pace +2 more
doaj +1 more source
The role of Coenzyme Q10 in statin-associated myopathy [PDF]
Statins, or 3-hydroxyl-3-methylglutaryl coenzyme HMG-CoA reductase inhibitors,\ud are cholesterol-lowering drugs which are frequently used in the primary and secondary\ud prevention of coronary artery disease. Current research and recommendations support\
Kalra, Dr Sanjay
core
Development of the autoinflammatory disease damage index (ADDI) [PDF]
OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies.
Al-Mayouf, SM +48 more
core +2 more sources
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study [PDF]
Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis.
Athanasakis, Emmanouil +10 more
core +3 more sources
Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency [PDF]
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
europepmc +3 more sources

