Results 71 to 80 of about 12,683 (169)

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature

The Turkish Journal of Pediatrics, 2012
The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme.
Pınar Gençpınar, Balahan B Makay, Marco Gattorno, Francesco Caroli, Erbil Ünsal   +4 more
doaj  

Isothiocyanates as Ferroptosis Inducers to Promote Cancer Cell Death

Phytotherapy Research, Volume 40, Issue 8, Page 5119-5131, August 2026.
ABSTRACT Cancer remains a leading cause of global mortality, with the therapeutic efficacy of anticancer drugs often hampered by late diagnosis and the development of chemotherapy resistance. Ferroptosis is an iron‐dependent form of regulated non‐apoptotic cell death driven by lipid peroxidation.
Valentina Citi, Renda Chahna, Francesca Maffei, Alma Martelli, Vincenzo Calderone, Carmela Fimognari, Eleonora Turrini   +6 more
wiley   +1 more source

Dual pharmacological targeting of coactivator‐associated arginine methyltransferase 1 (CARM1) and salt inducible kinase (SIK) drives ketogenesis in both hepatocytes and mice

British Journal of Pharmacology, Volume 183, Issue 15, Page 4399-4415, August 2026.
Abstract Background and Purpose Ketone bodies are liver‐derived circulating energy metabolites that positively impact most hallmarks of ageing. Ketone bodies increase during calorie restriction and fasting, two of the more widely perceived methods to increase health span.
Tábata Bergonci, Troels Kjær Rosenbæk, Samuel J. Windross, Ulrik B. Keiding, Estéfano Pinilla, Katrine P. Stuckert, Jakob Hansen, Camilla B. Nielsen, Jemila Peter Gomes, Lucy R. Davies, Johan Palmfeldt, Volker Loeschcke, Charlotte U. Andersen, Ulf Simonsen, Thomas B. Poulsen, Mogens Johannsen   +15 more
wiley   +1 more source

MAPK Inhibitor‐Tolerant Persister Cells in Melanoma: Mechanisms and Therapeutic Vulnerabilities

Cancer Science, Volume 117, Issue 8, Page 2050-2063, August 2026.
Melanoma response to MAPK inhibition progresses from drug‐sensitive cells to drug‐tolerant persister states, which enable survival through adaptive signaling, metabolic rewiring, and phenotypic plasticity. These persister cells serve as an intermediate reservoir from which resistant tumors ultimately emerge. ABSTRACT Though major advancements have been
Bhoomi Shah, Mackenzie M. Mayhew, Jacob Sellers, Russell G. Witt   +3 more
wiley   +1 more source

The Inhibition of Mevalonic Kinase by Geranyl and Farnesyl Pyrophosphates

Journal of Biological Chemistry, 1968
Abstract The inhibition in vitro of a highly purified preparation of mevalonate kinase by terpenyl pyrophosphates has been studied. Geranyl-PP and farnesyl-PP are potent inhibitors, while isopentenyl-PP, dimethylallyl-PP, and inorganic pyrophosphate do not inhibit significantly.
J K, Dorsey, J W, Porter
openaire   +2 more sources

Jiuwei Xiaozhi Decoction Alleviates High‐Fat Diet‐Induced MASLD by Suppressing Hepatic SREBP2‐Driven Cholesterogenesis and Restoring PPARα‐Mediated Fatty Acid Oxidation

Chemical Biology &Drug Design, Volume 108, Issue 2, August 2026.
Studies have found that Jiuwei Xiaozhi Decoction can improve high‐fat diet‐induced fatty liver disease, mainly by regulating the SREBP2 and PPARα pathways to balance hepatic lipid metabolism while reducing inflammatory responses. ABSTRACT Jiuwei Xiaozhi Decoction (JWXZ) is a nine‐herb traditional Chinese medicine formula clinically used for hepatic ...
Youcheng Ma, Xinrui Gao, Ji Wang, Lingru Li, Zhen Huang, Fangli Li   +5 more
wiley   +1 more source

Occurrence of the enzymes effecting the conversion of acetyl CoA to squalene in homogenates of hog aorta

Journal of Lipid Research, 1973
Homogenates and subcellular fractions of the intima–media of hog aorta have been prepared and examined for the presence of the enzymes catalyzing the conversion of acetyl CoA to squalene.
Linda L. Slakey, Gene C. Ness, Nilofer Qureshi, John W. Porter   +3 more
doaj   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, Volume 293, Issue 15, Page 4554-4577, August 2026.
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, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Towards an integrated molecular understanding of plant hormones

Journal of Integrative Plant Biology, Volume 68, Issue 8, Page 2787-2826, August 2026.
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, Marie‐Laure Fauconnier, Manon Genva   +2 more
wiley   +1 more source