Results 71 to 80 of about 4,712 (147)

1H HR‐MAS NMR Metabolomics in Combination With Transcriptomic Correlation Provides New Insights Into Metabolic Heterogeneity Across Breast Cancer Immunohistochemical Subtypes

NMR in Biomedicine, Volume 39, Issue 10, October 2026.
Metabolomic profiling of breast cancer tissue using 1H HR‐MAS NMR spectroscopy and LCModel‐based quantitative analysis revealed metabolite differences associated with immunohistochemical subtypes, and subsequent metabolomics–transcriptomics integration linked these subtype‐dependent metabolic signatures to pathways in choline metabolism, one‐carbon ...
Irene Garcia‐Bocanegra, Jesus David Urbano‐Gamez, Antonio Perez‐Cardona, Laura Barrios, Maria Isabel Somoza‐Ramírez, Luis Vicioso, Elena Pardo‐Susacasa, Gema Diaz‐Cordoba, Maria Mercedes Acebal‐Blanco, Francisco Sendra‐Portero, Maria Luisa Garcia‐Martin   +10 more
wiley   +1 more source

Molecular and cellular consequences of mevalonate kinase deficiency

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic loss-of-function variants in the MVK gene, which encodes mevalonate kinase (MK), an early enzyme in the isoprenoid biosynthesis pathway. To identify molecular and cellular consequences
Frouwkje A, Politiek, Marjolein, Turkenburg, Linda, Henneman, Rob, Ofman, Hans R, Waterham   +4 more
openaire   +2 more sources

Hyperimmunoglobulin-D Syndrome in Children: A Review Article

Journal of Pediatrics Review, 2016
Hyperimmunoglobulin-D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene.
Masoud Golpour, Javad Ghaffari
doaj  

On-demand anakinra treatment is effective in mevalonate kinase deficiency

Annals of the Rheumatic Diseases, 2011
Mevalonate kinase deficiency (MKD) is a hereditary autoinflammatory syndrome marked by recurrent attacks of fever and inflammation. Severe enzyme deficiency results in mevalonic aciduria (MA) and milder deficiency in hyperimmunoglobulin D syndrome (HIDS).
Bodar, E.J., Kuijk, L.M., Drenth, J.P.H., Meer, J.W.M. van der, Simon, A., Frenkel, J.   +5 more
openaire   +4 more sources

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience

The Turkish Journal of Pediatrics
Background. We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF). Methods.
Elif Kılıç Könte, Ece Aslan, Nergis Akay, Ümit Gül, Esma Aslan, Aybüke Günalp, Fatih Haşlak, Mehmet Yıldız, Amra Adrovic, Sezgin Şahin, Kenan Barut, Özgür Kasapçopur   +11 more
doaj   +1 more source

Geranylgeraniol Modulates Inflammatory and Metabolic Pathways but Not IgD Biology in Mevalonate Kinase Deficiency

Journal of Human Immunity
ObjectivesMevalonate kinase deficiency (MKD) is a metabolic disorder caused by a block in the mevalonate pathway, leading to impaired synthesis of cholesterol and isoprenoids. Clinically, MKD presents with recurrent inflammatory attacks. A characteristic
Anna Sediva, Martin Orlický, Ruichen Ye, Monika Bambouskova   +3 more
doaj   +1 more source

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis. [PDF]

Cureus, 2023
Pereira-Nunes J, Ferreras C, Grangeia A, Aguiar F, Rodrigues M, Brito I.   +5 more
europepmc   +1 more source

Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition

Case Reports in Veterinary Medicine, 2017
Glucose-6-phosphate dehydrogenase (G6PD) is an oncoprotein that is overexpressed in cancer cells to provide the NADPH required for their increased anabolism. NADPH, sourced from G6PD fuels nucleotide biosynthesis, maintains redox potential of thioredoxin
Jonathan W. Nyce
doaj   +1 more source

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment. [PDF]

Mol Syndromol, 2022
Koç Yekedüz M, Doğulu N, Öncül Ü, Köse E, Ceylaner S, Eminoğlu FT.   +5 more
europepmc   +1 more source

Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis. [PDF]

Int J Environ Res Public Health, 2021
Pisanti S, Citro M, Abate M, Caputo M, Martinelli R.   +4 more
europepmc   +1 more source