Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome
نویسندگان
چکیده
منابع مشابه
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome
Myeong Sun Jang, M.D., Yoo Min Lee, M.D., Bong Min Ko, M.D., Goeun Kang, M.D., Jong-Won Kim, M.D., and Yong Hee Hong, M.D. Department of Pediatrics and Digestive Disease Center and Research Institute, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon; Department of Laboratory Medicine, Mokpo Hankook Hospital, Mokpo; Department of Laboratory Medicine and Clin...
متن کاملPeutz-Jeghers syndrome with germline mutation of STK11
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intes...
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چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
15 صفحه اولA novel germline mutation (c.A527G) in STK11 gene causes Peutz–Jeghers syndrome in a Chinese girl
RATIONALE Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous pigm...
متن کاملP-191: Association of STK11 Gene Polymorphisms with Methformin Treatment in Patients with Polycystic Ovary Syndrome
Background: Metformin is an insulin sensitizing drug, which is co-administered with Clominophene citrate or gonadotropins in most cases of polycystic ovary syndrome (PCOS), to improve ovulation. STK11 gene is necessary for action of metformin. Therefore the study of STK11 polymorphisms is important as pharmacogenetics aspects of metformin. The aim of our study was to investigate polymorphism of...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2004
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201155