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MVK encodes the peroxisomal enzyme mevalonate kinase. Zusätzlich bieten wir Ihnen Mevalonate Kinase Antikörper (92) und Mevalonate Kinase Proteine (16) und viele weitere Produktgruppen zu diesem Protein an.
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Mevalonate kinase deficiency (MKD) can be associated with retinitis pigmentosa (RP) and early onset cataract. Most MKD patients developing RP carry the (p.Ala334Thr) mutation.
In a cohort of mevalonate kinase deficiency patients, ninety-six (84%) of the patients harbored at least 1 p.V377I mutation, 14 (12%) of which were homozygous. The second most frequent mutation was p.I268T, occurring in 29 (25%) of the patients. None of them were p.I268T homozygous. A p.C152Y mutation was found in 1 patient.
These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese.
this study extends the mutation spectrum of MVK; MVK protein stability and correct folding might be the molecular mechanism causing disseminated superficial actinic porokeratosis
predictive analysis of mutations in MVK to predict disease severity
study reports a novel mutation of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis (DSAP); result confirms the involvement of MVK gene in DSAP
results from this 4 generation family imply a causal relationship between MVK and perokeratosis.
Results suggest that the effects of MVK mutations in Behcet's disease could be an additional genetic susceptibility factor for the patients with neurological involvement.
The testing for the Hyper IgD Syndrome was positive for the pV377I/c.1129 G>A heterozygosity in a patient with periodic fever.
Report a novel missense mutation in mevalonate kinase responsible for disseminated superficial actinic porokeratosis.
analyis of the aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome
PTH (zeige PTH ELISA Kits) stimulated BMP-2 (zeige BMP2 ELISA Kits) mRNA expression via the mevalonate pathway and ROK (zeige GRK1 ELISA Kits) in osteoblastic MC3T3-E1 cells
a mevalonate kinase (Mvk) allele deletion yields a murine model of hyper-IgD syndrome
expression of LHR (zeige LHCGR ELISA Kits) mRNA in bovine granulosa cells is established after follicle deviation, and the lower abundance of LRBP mRNA after the expected time of deviation may contribute to greater expression of LHR (zeige LHCGR ELISA Kits) in the bovine dominant follicle
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene.
, LH receptor mRNA-binding protein
, mevalonate kinase 1
, mevalonate kinase (mevalonic aciduria)