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In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

In this case report, significantly elevated testosterone levels were documented in a young female with Type A Insulin Resistance Syndrome, marking a clinical finding beyond what is typically associated with the disorder's known mutations.

This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

In this study, researchers explored ubiquitination patterns in healthy human skin and CYLD cutaneous syndrome tumors, identifying extensive ubiquitin sites and differential protein ubiquitination linked to tumor pathology, highlighting the role of ubiquitination in tissue architecture and disease mechanisms.