A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.

A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.

Item
http://www.wikidata.org/entity/Q35104094
Carney complex: an updateMEN1, MEN4, and Carney Complex: Pathology and Molecular GeneticsCutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complexMutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complexProtein kinase A defects and cortisol-producing adrenal tumorscAMP/PKA signaling defects in tumors: genetics and tissue-specific pluripotential cell-derived lesions in human and mouse.5th International ACC Symposium: The New Genetics of Benign Adrenocortical Neoplasia: Hyperplasias, Adenomas, and Their Implications for Progression into Cancer.Signs and genetics of rare cancer syndromes with gastroenterological features.E pluribus unum? The main protein kinase A catalytic subunit (PRKACA), a likely oncogene, and cortisol-producing tumors.Failure to Thrive in the Context of Carney Complex.Fibrolamellar Carcinoma in the Carney Complex: PRKAR1A Loss Instead of the Classic DNAJB1-PRKACA Fusion.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
P2860

A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.

Item
http://www.wikidata.org/entity/Q35104094
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年论文
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name
A novel PRKAR1A mutation assoc ...... subjects in older generations.
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A novel PRKAR1A mutation assoc ...... subjects in older generations.
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type
label
A novel PRKAR1A mutation assoc ...... subjects in older generations.
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A novel PRKAR1A mutation assoc ...... subjects in older generations.
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prefLabel
A novel PRKAR1A mutation assoc ...... subjects in older generations.
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A novel PRKAR1A mutation assoc ...... subjects in older generations.
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A novel PRKAR1A mutation assoc ...... subjects in older generations.
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10.1111/J.1365-2265.2008.03286.X
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