دورية أكاديمية
A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer
| العنوان: | A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer |
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| المؤلفون: | Dalia Cuenca, Jose Luis Ventura-Gallegos, Paloma Almeda-Valdes, María Teresa Tusié-Luna, Alfredo Reza-Albarran, Laura Ventura-Ayala, Ma. Luisa Ordoñez-Sánchez, Yayoi Segura-Kato, Francisco Javier Gomez-Perez, Michelle De Puy Conte, Lizbet Ruilova Gonzalez, Alejandro Zentella-Dehesa |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100965- (2023) |
| بيانات النشر: | Elsevier, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycystic ovary syndrome (PCOS). We present a case of a 29-year-old woman with amenorrhea, severe insulin resistance, hirsutism, and acanthosis nigricans who also developed endometrial cancer. She was found to carry a novel heterozygous nonsense mutation insulin receptor gene (INSR). The mutation was inherited from the mother. Levels of insulin receptor and AKT were measured using Western-Blot from peripheral blood mononuclear cells and were both decreased. Thus, we conclude that the identified mutation in the insulin receptor gene and lead to decreased activity of the downstream signaling of the insulin pathway. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| العلاقة: | http://www.sciencedirect.com/science/article/pii/S2214426923000113Test; https://doaj.org/toc/2214-4269Test |
| DOI: | 10.1016/j.ymgmr.2023.100965 |
| الوصول الحر: | https://doaj.org/article/54dc240e5dbb40a293e3a8ce3a47ce6cTest |
| رقم الانضمام: | edsdoj.54dc240e5dbb40a293e3a8ce3a47ce6c |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2023.100965 |