Results 71 to 80 of about 4,456 (149)

The laboratory approach in the diagnosis of systemic autoinflammatory diseases

Reumatismo, 2011
Systemic autoinflammatory diseases are a group of inherited disorders of the innate immunity characterized by the recurrence of febrile attacks lasting from few hours to few weeks and multi-district inflammation of different severity involving skin ...
B. Frediani, M. Galeazzi, O.M. Lucherini, G.D. Sebastiani, D. Rigante, M.G. Brizi, L. Cantarini   +6 more
doaj   +1 more source

Machine Learning Predicts Treatment Response and Prognostic Pathways From Whole‐Blood Transcriptome in Primary Biliary Cholangitis

Liver International, Volume 46, Issue 8, August 2026.
ABSTRACT Background and Aims Prognostic biomarkers that link disease progression and/or responses to therapeutic interventions in patients with primary biliary cholangitis (PBC) remain undefined. In this study, we used a machine learning (ML) approach with whole‐blood transcriptomic data to predict clinical outcomes in response to obeticholic acid (OCA)
Hussain Syed, Ning Sun, Doaa Waly, Varinder Verma, Matthew Smith, David Shapiro, Mary Erickson, Kathy Siminovitch, Mark Swain, Mohammed S. Osman, Andrew L. Mason   +10 more
wiley   +1 more source

Early-onset generalized linear porokeratosis with cutaneous squamous cell carcinomas: A case report and genomic analysis

Dermatologica Sinica
Previous studies have shown that porokeratosis (PK) arises from mutations in the enzyme-encoding genes – mevalonate kinase, phosphomevalonate kinase, mevalonate diphosphate decarboxylase (MVD), farnesyl diphosphate synthase, and farnesyl-diphosphate ...
Yike Huang, Ying Qi, Zhen Tian, Qiaoan Zhang, Ou Fang, Jia Chen, Jing Luan, Caihua Li, Zhengwen Jiang, Lixiong Gu, Xiaodong Chen, Zhenghua Zhang   +11 more
doaj   +1 more source

Climate change and crop resilience: harnessing metabolomics for predicting stress tolerance

New Phytologist, Volume 251, Issue 3, Page 975-995, August 2026.
Summarised methodology for metabolite biomarker discovery and genomic targets selection for those metabolites to predict high‐throughput phenotypic and agronomic traits of interest for direct uptake in breeding programmes. Summary Global warming is driving climate change to levels not experienced since the advent of agriculture, primarily due to ...
Agyeya Pratap, Arash Fazeli, Ali Bandehagh, Nicolas L. Taylor   +3 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

Molecular recognition in plant root endosymbiosis

The Plant Journal, Volume 127, Issue 3, August 2026.
SUMMARY Root endosymbiosis is one of the most intimate types of plant–microbe interactions in which a symbiont is hosted within a living plant cell. In this symbiosis, nitrogen‐fixing bacteria and arbuscular mycorrhizal fungi support plant nutrient provisioning in exchange for carbohydrates and lipids.
Tora Fougner‐Økland, Maria Spezzati, Katarzyna Parys   +2 more
wiley   +1 more source

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  

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