Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation
نویسندگان
چکیده
منابع مشابه
Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families
BACKGROUD Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population....
متن کاملGeneration of human induced pluripotent stem cell line from a patient with a long QT syndrome type 2.
We report here the generation of human iPS cell line UKKi009-A from dermal fibroblasts of a patient carrying heterozygous mutation c.3035-3045delTCCCTCGATGC, p.Leu1012Pro (fs*55) in KCNH2 gene leading to long QT syndrome type 2 (LQT2). We used the Sleeping Beauty transposon-based plasmids expressing OSKM along with microRNAs 307/367 to reprogram the fibroblasts. The iPS cells possess pluripoten...
متن کاملMultiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old patient Néoplasie endocrinienne multiple de type 2a et mutation C634G du proto-oncogène RET diagnostiquées chez un patient de 80 ans
An 80-year-old man presented with progressive fatigue. Blood tests showed that serum calcium was increased (2.93 mmol/l, normal range 2.20–2.55 mmol/l) and serum concentration of intact parathyroid hormone (iPTH) inappropriately high (198 pg/ml, normal range 15-85 pg/ml). Neck ultrasonography and Tc-MIBI scintigraphy revealed a right parathyroid adenoma and a multinodular goiter. Serum calciton...
متن کامل[Astrocytoma in a patient with multiple endocrine neoplasia type 2A syndrome. May the coexistence of glial tumors and multiple endocrine neoplasia 2A not be casual?].
5. Rayner CK, Samsom M, Jones KL, Horowitz M. Relationship of upper gastrointestinal motor and sensory function with glycemic control. Diabetes Care. 2001;24:371. 6. Hummel M, Geigenberger G, Brand J, Ziegler AG, Füchtenbusch M. New therapeutic approaches to diabetic gastroparesis. Med Klin (Munich). 2008;103:514--8. 7. Van Heel DA, Levitt NS, Winter TA. Diabetic neuropathic cachexia: the impor...
متن کاملTissue-specific carcinogenesis in transgenic mice expressing the RET proto-oncogene with a multiple endocrine neoplasia type 2A mutation.
Germ line mutations of the RET proto-oncogene are responsible for the development of multiple endocrine neoplasia type 2A (MEN 2A), an inherited cancer syndrome characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia. To study the mechanism of tissue-specific tumor development by RET with a MEN2A (cysteine 634-->arginine) mutation, we generated transgenic mic...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Stem Cell Research
سال: 2016
ISSN: 1873-5061
DOI: 10.1016/j.scr.2016.06.008