Nuclear Localization of the Parafibromin Tumor Suppressor Protein Implicated in the Hyperparathyroidism-Jaw Tumor Syndrome Enhances Its Proapoptotic Function
نویسندگان
چکیده
منابع مشابه
Hyperparathyroidism-jaw tumor syndrome.
BACKGROUND Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare autosomal dominant multiple tumor syndrome characterized by hyperparathyroidism due to single or multiple-gland parathyroid tumor(s). Since it was first described in 1990, the genetics underlying the syndrome have been elucidated and typical clinical presentations are becoming clarified as literature describing this rare entit...
متن کاملDefective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.
The hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a familial cancer syndrome that can result from germline inactivation of HRPT2/CDC73, a putative tumor suppressor gene that encodes parafibromin, a component of the transcriptional regulatory PAF1 complex with homology to the yeast protein Cdc73p. The vast majority of HRPT2/CDC73 germline mutations identified have been truncation or framesh...
متن کاملHyperparathyroidism-jaw tumor syndrome: a case report.
We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and uterine fibroma in her mother. The patient presented muscle weakness. The diagnosis of PHPT was confirmed by an elevated parathyroid hormone level above 1450 pg/ml with hypercalcemia and hypercalciuria...
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abstract هنجارهای بومی سازی در ترجمه متون چندوجهی فارسی:مورد دموهای بازیهای کامپیوتری چکیده اهداف عمده مطالعه حاضر به سه دسته تقسیم میشوند: 1) بررسی مشکلات احتمالی ترجمه دموهای (فیلمهای) بازیهای کامپیوتری،2) تعیین هنجارهای بومی سازی در ترجمه دموهای (فیلمهای) بازیهای کامپیوتری و 3) تعیین ایدئولوژیهایی که این هنجارها در جامعه نشان میدهند. به این منظور، ابتدا، مجموعه ای ازدموهای (فیلمهای) ب...
15 صفحه اولPrimary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis
BACKGROUND Primary hyperparathyroidism is caused by the excessive growth of parathormone secretion, its consequence being hypercalcemia. The parathyroid adenoma is responsible for over half of primary hyperparathyroidism cases. The mandibular tumor can be the initial sign in the case of primary hyperparathyroidism. CASE PRESENTATION We present the case of a 33 year old patient with history of...
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ژورنال
عنوان ژورنال: Molecular Cancer Research
سال: 2007
ISSN: 1541-7786,1557-3125
DOI: 10.1158/1541-7786.mcr-06-0129