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Kadowaki, T., Kadowaki, H., Accili, D. and Taylor, S.I. (1990) Substitution of Lysine for Asparagine at Position 15 in the Alpha-Subunit of the Human Insulin Receptor. A Mutation That Impairs Transport of Receptors to the Cell Surface and Decreases the Affinity of Insulin Binding. Journal of Biological Chemistry, 265, 19143-19150.
https://doi.org/10.1016/s0021-9258(17)30636-1

has been cited by the following article:

• TITLE: Diabetes Mellitus Revealing a Rabson-Mendenhall Syndrome: A Case Report

  AUTHORS: Samia Bentaleb, Siham Belmaati Cherkaoui, Sana Abourazzak, Mustapha Hida

  KEYWORDS: Acanthosis Nigricans, Insulin Resistance, Diabetes, Hereditary

  JOURNAL NAME: Open Journal of Endocrine and Metabolic Diseases, Vol.15 No.2, February 24, 2025

  ABSTRACT: Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive inherited disease marked by insulin resistance. Mutations in the insulin receptor gene seem to be the fundamental mechanism behind this type A insulin-resistant illness. Statural growth retardation, acanthosis nigricans, hypertrichosis, dysmorphia and coarse facial features, dysplastic dentition, enlarged external genitalia, postprandial hyperglycemia and paradoxical fasting hypoglycemia, severe hyperinsulinemia and potentially onset of ketoacidosis are the symptoms of this syndrome. Because there are few therapy choices for this illness and treating hyperglycemia is a difficult undertaking, a multi-disciplinary approach is crucial to managing this difficult clinical condition. We relate the case of a young male patient, after parental consent, with features of RMS suspected in the presence of dysmorphic syndrome and insulin resistance.