Results 81 to 90 of about 13,285 (168)

Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant

Frontiers in Pediatrics
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder caused by mevalonate kinase (MVK) gene mutations, with phenotypes ranging from mild hyper-IgD syndrome (HIDS) to severe mevalonic aciduria (MA).
Na Li, Weining Li, HongXia Zhang, Xingcui Wang   +3 more
doaj   +1 more source

Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency. [PDF]

Glob Pediatr Health, 2023
Souali M, Sakhi A, Bousfiha AA, Bouayed K.   +3 more
europepmc   +1 more source

Statins regulate kinase signaling by causing changes in phosphorylation, rather than through changes in gene expression or direct inhibition: evidence in colorectal cancer

Frontiers in Pharmacology
IntroductionStatins, widely used for hypercholesterolemia, have shown anticancer properties including induction of apoptosis and ferroptosis, modulation of autophagy, and reprogramming of the tumor microenvironment, making them potential candidates for ...
Francisco Alejandro Lagunas-Rangel, Francisco Alejandro Lagunas-Rangel, Jörgen Jonsson, Ludmila Jackevica, Robert Fredriksson, Maija Dambrova, Maija Dambrova, Helgi B. Schiöth, Helgi B. Schiöth   +8 more
doaj   +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

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

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated

Frontiers in Immunology
PurposeThe aim of this study was to present a case of early-onset mevalonic aciduria (MA) in a neonate and summarize the relevant phenotypic and genotypic spectra of MA.Methods and resultsWe describe a neonate who presented with elevated inflammatory ...
Shanshan Xue, Shanshan Xue, Wujuan Shi, Wujuan Shi, Xiaobo He, Xiaobo He, Lihong Hao, Lihong Hao   +7 more
doaj   +1 more source

Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. [PDF]

Arch Rheumatol, 2023
Yıldız F, Dinkçi S, Erken E.
europepmc   +1 more source

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency. [PDF]

Pediatr Rheumatol Online J, 2022
Jeyaratnam J, Faraci M, Gennery AR, Drabko K, Algeri M, Morimoto A, Sirait T, Lankester AC, Albert M, Neven B, Frenkel J, EBMT Inborn Errors Working Party.   +11 more
europepmc   +1 more source

Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report. [PDF]

World J Clin Cases, 2022
Xu HJ, Wen GD.
europepmc   +1 more source

Mevalonate-Kinase Isoenzymes in Plant Cells [PDF]

Biochemical Journal, 1966
L J, Rogers, S P, Shah, T W, Goodwin
openaire   +2 more sources