نتایج جستجو برای: prkar1a protein

تعداد نتایج: 1234776  

Journal: :Human molecular genetics 2007
Sosipatros A Boikos Constantine A Stratakis

Pituitary tumors are among the most common human neoplasms. Although these common lesions rarely become clinically manifest and they are almost never malignant, they are the cause of significant morbidity in affected patients. The genetic causes of common pituitary tumors remain for the most part unknown; progress has been limited to the elucidation of the molecular etiology of four genetic syn...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2008
Vania S Nunes Cláudia V Chang Gláucia M F S Mazeto Mariângela E A Marques Ana Valéria B Castro Célia R Nogueira

Carney Complex (CNC) and Multiple Endocrine Neoplasia type 1 (MEN1) are forms of multiple endocrine neoplasia of dominant autosomal inheritance. Diagnosis of CNC occurs when two major criteria (lentiginoses, primary pigmented nodular adrenocortical disease, cardiac and cutaneous myxomas, acromegaly, testicular neoplasias, thyroid cancer) are observed and/or a major criterion associated with a s...

2015
Hao Gu Qidong Li Shan Huang Weiguang Lu Fangyuan Cheng Ping Gao Chen Wang Lin Miao Yide Mei Mian Wu

Embryonic stem cells (ESCs) possess pluripotency, which is the capacity of cells to differentiate into all lineages of the mature organism. Increasing evidence suggests that the pluripotent state of ESCs is regulated by a combination of extrinsic and intrinsic factors. The underlying mechanisms, however, are not completely understood. Here, we show that March5, an E3 ubiquitin ligase, is involv...

Journal: :European journal of endocrinology 2007
Albert Beckers Adrian F Daly

Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC), which occur due to mutations in the genes MEN1 and PRKAR1A respectively. Isolated familial somatotropinoma (IFS) is also a well-described clinical syndrome related only to patients with acrogigantism. Pituitary adenomas of all types--not limited to IFS--can occur in a familia...

Journal: :Neuroendocrinology 2016
Marie Helene Schernthaner-Reiter Giampaolo Trivellin Constantine A Stratakis

Pituitary adenomas are a common feature of a subset of endocrine neoplasia syndromes, which have otherwise highly variable disease manifestations. We provide here a review of the clinical features and human molecular genetics of multiple endocrine neoplasia (MEN) type 1 and 4 (MEN1 and MEN4, respectively) and Carney complex (CNC). MEN1, MEN4, and CNC are hereditary autosomal dominant syndromes ...

Journal: :Revista espanola de cardiologia 2008
Jesus Vargas-Barrón Gilberto Vargas-Alarcón Francisco-Javier Roldán Clara Vázquez-Antona Zuilma Vásquez Ortiz Julio Erdmenger-Orellana Angel Romero-Cárdenas

The study involved 63 patients with an echocardiographic, surgical and histopathologic diagnosis of cardiac myxoma who were seen over a period of 20 years. Tumor recurrence or relapse was documented in five of these patients (7.9%), 3 of whom had a confirmed diagnosis of Carney complex, while one other patient had a probable diagnosis. Genetic studies demonstrated abnormalities in the PRKAR1A g...

2015
A.H.A. Shah A. I. Azmi

The optimization of performance characteristics in turning process can be achieved through selection of proper machining parameters. It is well known that many researchers have successfully reported the optimization of single performance characteristic. Nevertheless, the multi-objective optimization can be difficult and challenging to be studied due to its complexity in analysis. This is becaus...

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