Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion
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چکیده
منابع مشابه
Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.
BACKGROUND Point mutations of the PRKAR1A gene are a genetic cause of Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in 30% of the patients no mutation is detected. OBJECTIVE Set up a routine-based technique for systematic detection of large deletions or duplications of this gene and functionally characterize these mutations. METHODS Multiplex ligatio...
متن کاملCarney complex with PRKAR1A gene mutation
RATIONALE Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS A 16-year-old boy was admitted because of excessive weight gain over 3 years and p...
متن کاملLarge deletions of the PRKAR1A gene in Carney complex.
PURPOSE Since the identification of PRKAR1A mutations in Carney complex, substitutions and small insertions/deletions have been found in approximately 70% of the patients. To date, no germ-line PRKAR1A deletion and/or insertion exceeded a few base pairs (up to 15). Although a few families map to chromosome 2, it is possible that current sequencing techniques do not detect larger gene changes in...
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A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase...
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the frame semantic theory is a nascent approach in the area of translation studies which goes beyond the linguistic barriers and helps us to incorporate cognitive and cultural factors to the study of translation. based on rojos analytical model (2002b), which centered in the frames or knowledge structures activated in the text, the present research explores the various translation problems that...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2014
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-13-0740