(Q46896304)

26 December 2017

title

Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome (English)

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8

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author name string

E J Hager

1

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H M Tse

2

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J D Piganelli

3

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M Gupta

4

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M Baetscher

5

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T E Tse

6

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A S Pappu

7

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G F Hoffmann

9

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K M Gibson

10

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publication date

19 November 2007

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26 December 2017

Journal of Inherited Metabolic Disease

published in

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26 December 2017

volume

30

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issue

6

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26 December 2017

page(s)

888-895

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26 December 2017

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum

cites work

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12 December 2020

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

1 reference

12 December 2020

Reduction in plasma low-density lipoprotein cholesterol and urinary mevalonic acid by lovastatin in patients with heterozygous familial hypercholesterolemia

1 reference

12 December 2020

Embryonic lethality and defective neural tube closure in mice lacking squalene synthase.

1 reference

12 December 2020

A role for geranylgeranylation in interleukin-1beta secretion

1 reference

12 December 2020

Feedback and hormonal regulation of hepatic 3-hydroxy-3-methylglutaryl coenzyme A reductase: the concept of cholesterol buffering capacity

1 reference

12 December 2020

Allogeneic bone marrow transplantation in mevalonic aciduria

1 reference

12 December 2020

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome

1 reference

12 December 2020

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

1 reference

12 December 2020

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

1 reference

12 December 2020

Fluvastatin inhibits raft dependent Fcgamma receptor signalling in human monocytes.

1 reference

12 December 2020

Simvastatin inhibits the MHC class II pathway of antigen presentation by impairing Ras superfamily GTPases.

1 reference

12 December 2020

Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome.

1 reference

12 December 2020

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

1 reference

12 December 2020

Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group

1 reference

12 December 2020

Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways

1 reference

12 December 2020

Early embryonic lethality caused by targeted disruption of the 3-hydroxy-3-methylglutaryl-CoA reductase gene

1 reference

12 December 2020

Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome

1 reference

12 December 2020

Determination of reduced and total ubiquinones in biological materials by liquid chromatography with electrochemical detection

1 reference

12 December 2020

Liquid-chromatographic determination of dolichols in urine

1 reference

12 December 2020

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol

1 reference

12 December 2020

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

1 reference

12 December 2020

Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency

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12 December 2020

10.1007/S10545-007-0776-7

Identifiers

DOI

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26 December 2017

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26 December 2017