Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A. (Q44341973)

2 December 2017

Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A. (English)

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2 December 2017

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Akihiko Sasaki

1

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2 December 2017

Yukio Horikawa

2

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2 December 2017

Tetsuya Suwa

3

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2 December 2017

Mayumi Enya

4

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2 December 2017

Shin-ichi Kawachi

5

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2 December 2017

Jun Takeda

6

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2 December 2017

29 August 2008

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Molecular Genetics and Metabolism

2 December 2017

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2 December 2017

95

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2 December 2017

3

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2 December 2017

182-187

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The complex of myxomas, spotty pigmentation, and endocrine overactivity

2 December 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient Evaluation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Identification of a novel genetic locus for familial cardiac myxomas and Carney complex

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Minireview: PRKAR1A: normal and abnormal functions

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Carney complex: the first 20 years

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Role of the PKA-regulated transcription factor CREB in development and tumorigenesis of endocrine tissues.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Inherited disposition to cardiac myxoma development

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

Clinical phenotypes and molecular genetic mechanisms of Carney complex

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.009

10.1016/J.YMGME.2008.07.009

7 January 2021

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DOI

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2 December 2017

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