Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Diabetes mellitus mit Insulinresistenz und Acanthosis nigricans

Diabetes mellitus mit Insulinresistenz und Acanthosis nigricans ist eine seltene autosomal dominante oder rezessive Erkrankung die durch Funktionsverlust im Insulinrezeptor hervorgerufen wird.

Symptome

Acanthosis nigricans
Bei allen durch Mutationen im Insulinrezeptor hervorgerufenen Insulinresistenzen ist mehr oder weniger konstant eine Acanthosis nigricans zu finden.

Gliederung

Insulinresistenz
CIDEC
Diabetes mellitus mit Insulinresistenz und Acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG

Referenzen:

1.

Kahn CR et al. (1988) The insulin receptor and the molecular mechanism of insulin action.

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2.

Leme CE et al. (1982) Acanthosis nigricans, hirsutism, insulin resistance and insulin receptor defect.

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3.

Rüdiger HW et al. (1983) Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor.

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4.

Bar RS et al. (1978) Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect.

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5.

Prince MJ et al. (1986) Functional characteristics of decreased insulin receptors on fibroblasts obtained from a subject with severe insulin resistance and acanthosis nigricans.

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6.

Rüdiger HW et al. (1985) Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor.

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7.

Dash S et al. (2009) A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

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8.

Seemanová E et al. (1992) Autosomal dominant insulin resistance syndrome due to postbinding defect.

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9.

Moller DE et al. (1994) Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

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10.

Mariani S et al. (1982) Insulin resistance in a child with Acanthosis nigricans type A.

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11.

Grigorescu F et al. (1984) Defect in insulin receptor phosphorylation in erythrocytes and fibroblasts associated with severe insulin resistance.

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12.

Grunberger G et al. (1984) Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding.

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13.

Schwenk WF et al. (1986) Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect.

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14.

Ojamaa K et al. (1988) Defects in human insulin receptor gene expression.

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15.

Kahn CR et al. (1976) The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man.

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16.

Grigorescu F et al. (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance.

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17.

Odawara M et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.

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18.

OMIM.ORG article

Omim 610549 external link
Update: 14. August 2020
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