(Q34696505)

4 August 2017

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title

The molecular basis of genetic lipodystrophies (English)

1 reference

4 August 2017

2

Robert A Hegele

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author name string

Shelly Bhayana

series ordinal

1

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4 August 2017

publication date

1 May 2002

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4 August 2017

published in

Clinical Biochemistry

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4 August 2017

volume

35

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4 August 2017

issue

3

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4 August 2017

page(s)

171-177

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Pathophysiology of insulin resistance in human disease.

4 August 2017

cites work

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Insulin resistance and human disease: a short history

7 January 2021

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LIPODYSTROPHY AND HEPATOMEGALY WITH DIABETES, LIPÆMIA, AND OTHER METABOLIC DISTURBANCES

7 January 2021

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Partial lipodystrophy and renal disease

7 January 2021

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Pathogenesis of HIV-1-protease inhibitor-associated peripheral lipodystrophy, hyperlipidaemia, and insulin resistance

7 January 2021

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Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy

7 January 2021

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Myocardial infarction in HIV-infected men receiving protease inhibitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state

7 January 2021

2 references

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

inferred from DOI database lookup

7 January 2021

based on heuristic

Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22

1 reference

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A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

7 January 2021

1 reference

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Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

7 January 2021

1 reference

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

7 January 2021

1 reference

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

7 January 2021

1 reference

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

7 January 2021

1 reference

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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

7 January 2021

1 reference

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Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.

7 January 2021

1 reference

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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

7 January 2021

1 reference

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Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

7 January 2021

1 reference

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Mutations in the LMNA gene encoding lamin A/C

7 January 2021

1 reference

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Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes

7 January 2021

1 reference

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Premature atherosclerosis associated with monogenic insulin resistance.

7 January 2021

1 reference

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LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.

7 January 2021

1 reference

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Nuclear lamins: their structure, assembly, and interactions

7 January 2021

1 reference

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cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

7 January 2021

1 reference

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The envelope, please: nuclear lamins and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Pushing the envelope on lipodystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

An undiagnosed endocrinometabolic syndrome: report of 2 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

GENERALIZED LIPODYSTROPHY.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy

7 January 2021

1 reference

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Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Congenital Generalized Lipodystrophy Accompanied by Cystic Angiomatosis

7 January 2021

1 reference

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Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy

7 January 2021

1 reference

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Hypertrophic cardiomyopathy in total lipodystrophy

7 January 2021

1 reference

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Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome).

7 January 2021

1 reference

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Severe islet amyloidosis in congenital generalized lipodystrophy.

7 January 2021

1 reference

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A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

7 January 2021

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Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha

7 January 2021

1 reference

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

7 January 2021

1 reference

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Stimulation of adipogenesis in fibroblasts by PPAR gamma 2, a lipid-activated transcription factor

7 January 2021

1 reference

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Regulation of adipocyte gene expression and differentiation by peroxisome proliferator activated receptor gamma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes.

7 January 2021

1 reference

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Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy

7 January 2021

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Life without white fat: a transgenic mouse

7 January 2021

1 reference

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Targeted expression of a toxin gene to adipose tissue: transgenic mice resistant to obesity.

7 January 2021

1 reference

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Insulin resistance in total lipodystrophy: evidence for a pre-receptor defect in insulin action.

7 January 2021

1 reference

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Normal insulin binding to cultured fibroblasts from patients with lipoatrophic diabetes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Cell culture studies of a patient with congenital lipoatrophic diabetes--normal insulin binding with alterations in intracellular glucose metabolism and insulin action.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Binding of insulin to fibroblasts in lipoatrophic diabetes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Congenital generalized lipodystrophy with insulin-resistant diabetes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Heterogeneity of the insulin-receptor interaction in lipoatropic diabetes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Altered expression and function of the insulin receptor in a family with lipoatrophic diabetes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Mechanism of insulin resistance in A-ZIP/F-1 fatless mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Insulin inhibits transcription of IRS-2 gene in rat liver through an insulin response element (IRE) that resembles IREs of other insulin-repressed genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Serum immunoreactive-leptin concentrations in normal-weight and obese humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Disease model: hyperinsulinemia and insulin resistance. Part B--polygenic and other animal models.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Leptin and diabetes in lipoatrophic mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Transgenic overexpression of leptin rescues insulin resistance and diabetes in a mouse model of lipoatrophic diabetes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Surgical implantation of adipose tissue reverses diabetes in lipoatrophic mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

The glucose fatty-acid cycle. Its role in insulin sensitivity and the metabolic disturbances of diabetes mellitus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

inferred from DOI database lookup

7 January 2021

based on heuristic

Cardiac findings in generalized lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900297-7

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0009-9120(02)00297-7

1 reference

4 August 2017

1 reference