Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.V164delFs
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PRKAR1A

NM_002734.5:p.V164delFs

Associated Papers

The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations.

Tatsi C et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Case Report: Cardiac myxomas and Carney complex: a case of recurrent embolic strokes and intracranial tumor growth.

Kuhn AW et al.

Frontiers in Oncology, 2025

A Case of Myxoid Malignant Peripheral Nerve Sheath Tumor in a Patient With Carney Complex.

Kobayashi K et al.

Case Reports in Pathology, 2025

Familial Carney complex with embolic ischemic stroke: a case report and literature review.

Luo T et al.

Frontiers in Oncology, 2025

From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex.

Di Gioia L et al.

Endocrine, 2024

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.

Hirose T et al.

Npj Breast Cancer, 2024

39366967 (PubMed )
Supplement: 41523_2024_693_MOESM1_ESM.xlsx › Supplementary_Data_1

Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.

Balinisteanu I et al.

Current Issues in Molecular Biology, 2024

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.

Martinerie L et al.

Annales D'endocrinologie, 2024

Carney complex predisposes to breast cancer: prospective study of 50 women.

Vaduva P et al.

European Journal of Endocrinology, 2024

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Sun J et al.

Frontiers in Endocrinology, 2024

Classification of Cushing's syndrome PKAc mutants based upon their ability to bind PKI.

Omar MH et al.

The Biochemical Journal, 2023

A Novel Missense PRKAR1A Variant Causes Carney Complex.

Kim B et al.

Endocrinology and Metabolism (seoul, Korea), 2022

Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.

Chatzikonstantinou S et al.

The International Journal of Neuroscience, 2022

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.

Wang H et al.

Frontiers in Endocrinology, 2022

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_FFPE_tumor

Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up.

Espiard S et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Identification of a PRKAR1A mutation (c.491_492delTG) in familial cardiac myxoma: A case report.

Ma S et al.

Medicine, 2019

Carney Complex.

Kamilaris CDC et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019

Carney complex with PRKAR1A gene mutation: A case report and literature review.

Liu Q et al.

Medicine, 2017

Corticotropinoma as a Component of Carney Complex.

Hernández-Ramírez LC et al.

Journal of the Endocrine Society, 2017

Novel PRKAR1A mutation in Carney complex with cardiac myxoma.

Kondo K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2017

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG.

Guo H et al.

World Journal of Surgical Oncology, 2015

Functional screen analysis reveals miR-26b and miR-128 as central regulators of pituitary somatomammotrophic tumor growth through activation of the PTEN-AKT pathway.

Palumbo T et al.

Oncogene, 2013

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

Briassoulis G et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2012

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.

Almeida MQ et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

[Carney complex].

Kacerovská D et al.

Ceskoslovenska Patologie, 2011

Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Almeida MQ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A et al.

Human Mutation, 2010

Carney complex and lentiginosis.

Horvath A et al.

Pigment Cell & Melanoma Research, 2009

Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.

Bimpaki EI et al.

European Journal of Endocrinology, 2009

Unraveling the molecular basis of micronodular adrenal hyperplasia.

Horvath A et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2008

Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.

Meoli E et al.

Cancer Research, 2008

PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes.

Robinson-White AJ et al.

Cancer Research, 2006

17079485 (PubMed )
Supplement: 00085472can062200-sup-supplementary_table_1.pdf

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

Robinson-White A et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Genetics of micronodular adrenal hyperplasia and Carney complex.

Tirosh A et al.

Presse Medicale (paris, France : 1983), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."