(Q44100396)

29 November 2017

title

A heterozygote phenotype is present in the jvs +/- mutant mouse livers (English)

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29 November 2017

Karim Lahjouji

1

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29 November 2017

Ihsan Elimrani

2

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29 November 2017

Jie Wu

3

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29 November 2017

Grant A Mitchell

4

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29 November 2017

Ijaz A Qureshi

5

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29 November 2017

publication date

1 May 2002

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Molecular Genetics and Metabolism

29 November 2017

published in

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29 November 2017

volume

76

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29 November 2017

issue

1

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29 November 2017

page(s)

76-80

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Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

29 November 2017

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Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy

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cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

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7 January 2021

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

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7 January 2021

Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2° strain of mouse with similarities to Reye's syndrome

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7 January 2021

Animal model of systemic carnitine deficiency: analysis in C3H-H-2 degrees strain of mouse associated with juvenile visceral steatosis

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7 January 2021

Mitochondrial abnormalities in a murine model of primary carnitine deficiency. Systemic pathology and trial of replacement therapy

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7 January 2021

Loss of wild-type carrier-mediated L-carnitine transport activity in hepatocytes of juvenile visceral steatosis mice

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7 January 2021

Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system

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7 January 2021

Gene-dose effect on carnitine transport activity in embryonic fibroblasts of JVS mice as a model of human carnitine transporter deficiency

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7 January 2021

Secondary abnormality of carnitine biosynthesis results from carnitine reabsorptional system defect in juvenile visceral steatosis mice

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7 January 2021

A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse

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7 January 2021

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

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7 January 2021

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

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7 January 2021

Genomic interval engineering of mice identifies a novel modulator of triglyceride production

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7 January 2021

Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1

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7 January 2021

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

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7 January 2021

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

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7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

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7 January 2021

Modifier genes convert "simple" Mendelian disorders to complex traits

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7 January 2021

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

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7 January 2021

A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene

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7 January 2021

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

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7 January 2021

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900017-3

7 January 2021

10.1016/S1096-7192(02)00017-3

Identifiers

DOI

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29 November 2017

1 reference