Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.L206R
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PRKACA

NM_002730.4:p.L206R

Associated Papers

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 2025

ccfDNA analysis for the classification of adrenocortical adenomas.

Xu M et al.

Journal of Endocrinological Investigation, 2025

Molecular characterization of archival adrenal tumor tissue from patients with ACTH-independent Cushing syndrome.

Rege J et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2025

Diagnostic and therapeutic approaches to a case of pregnancy complicated by bilateral adrenocortical adenomas with primary aldosteronism and Cushing's syndrome.

Chen Y et al.

Endocrine, 2025

The molecular genetics of adrenal cushing.

Vaduva P et al.

Hormones (athens, Greece), 2024

Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism.

Caroccia B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Single-nucleus and spatial transcriptome reveal adrenal homeostasis in normal and tumoural adrenal glands.

Altieri B et al.

Clinical and Translational Medicine, 2024

39167619 (PubMed )
Supplement: CTM2-14-e1798-s002.docx

Rare correlation of somatic PRKACA mutations with pregnancy-associated aldosterone- and cortisol-producing adenomas: a case report and literature review.

Lin J et al.

Bmc Endocrine Disorders, 2024

Steroids-producing nodules: a two-layered adrenocortical nodular structure as a precursor lesion of cortisol-producing adenoma.

Fukumoto T et al.

Ebiomedicine, 2024

Cardiovascular risk assessments in patients with cortisol-producing adenoma: impact of clinical features and genetic characteristics.

Watanabe D et al.

Heart and Vessels, 2024

Gene Mutations in Cushing's Syndrome.

Ojha U et al.

Molecular Syndromology, 2023

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.

McGlacken-Byrne SM et al.

European Journal of Endocrinology, 2022

Cortisol-producing adenoma-related somatic mutations in unilateral primary aldosteronism with concurrent autonomous cortisol secretion: their prevalence and clinical characteristics.

Wu WC et al.

European Journal of Endocrinology, 2022

Targeted Mutational Analysis of Cortisol-Producing Adenomas.

Rege J et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Case Report: Primary Aldosteronism Due to Bilateral Aldosterone-Producing Micronodules With HISTALDO Classical and Contralateral Non-Classical Pathology.

Chen YJ et al.

Frontiers in Endocrinology, 2022

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

Primary aldosteronism: Pathophysiological mechanisms of cell death and proliferation.

Tetti M et al.

Frontiers in Endocrinology, 2022

Disorders of the adrenal cortex: Genetic and molecular aspects.

Pitsava G et al.

Frontiers in Endocrinology, 2022

The cAMP-signaling cancers: Clinically-divergent disorders with a common central pathway.

Bolger GB

Frontiers in Endocrinology, 2022

Genotype-specific cortisol production associated with Cushing's syndrome adenoma with PRKACA mutations.

Baba R et al.

Molecular and Cellular Endocrinology, 2021

Clinical and Molecular Characteristics of PRKACA L206R Mutant Cortisol-Producing Adenomas in Korean Patients.

Jang I et al.

Endocrinology and Metabolism (seoul, Korea), 2021

Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.

Ramms DJ et al.

Pharmacological Reviews, 2021

Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.

Shimada H et al.

Biomedicines, 2021

Unravelling the Genetic Basis of Primary Aldosteronism.

Mourtzi N et al.

Nutrients, 2021

PKA Cα subunit mutation triggers caspase-dependent RIIβ subunit degradation via Ser114 phosphorylation.

Weigand I et al.

Science Advances, 2021

Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.

Drougat L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Genomic classification of benign adrenocortical lesions.

Faillot S et al.

Endocrine-related Cancer, 2021

33151900 (PubMed )
Supplement: supplementary_table_3.xlsx › Sup3__Somatic_mutations_Exome_

Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.

Kamilaris CDC et al.

Frontiers in Endocrinology, 2021

Intratumoral heterogeneity of the tumor cells based on in situ cortisol excess in cortisol-producing adenomas; ∼An association among morphometry, genotype and cellular senescence∼.

Gao X et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2020

Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.

Vaduva P et al.

Journal of the Endocrine Society, 2020

Adrenocortical tumorigenesis: Lessons from genetics.

Kamilaris CDC et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2020

Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome.

Di Dalmazi G et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Molecular mechanisms in primary aldosteronism

De Sousa K et al.

Journal of Molecular Endocrinology, 2019

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.

Fujita A et al.

Neurology, 2019

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Nanba K et al.

Hypertension (dallas, Tex. : 1979), 2019

Alterations in Protein Kinase A Substrate Specificity as a Potential Cause of Cushing Syndrome.

Bathon K et al.

Endocrinology, 2019

Genetics of Cushing's Syndrome.

Hernández-Ramírez LC et al.

Endocrinology and Metabolism Clinics of North America, 2018

Kinetics and inhibition studies of the L205R mutant of cAMP-dependent protein kinase involved in Cushing's syndrome.

Luzi NM et al.

Febs Open Bio, 2018

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

Clinical Characteristics of Aldosterone- and Cortisol-Coproducing Adrenal Adenoma in Primary Aldosteronism.

Tang L et al.

International Journal of Endocrinology, 2018

Sleeping Beauty Insertional Mutagenesis in Mice Identifies Drivers of Steatosis-Associated Hepatic Tumors.

Tschida BR et al.

Cancer Research, 2017

Histopathological and genetic characterization of aldosterone-producing adenomas with concurrent subclinical cortisol hypersecretion: a case series.

Fallo F et al.

Endocrine, 2017

Lipofuscin Accumulation in Cortisol-Producing Adenomas With and Without PRKACA Mutations.

Angelousi A et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2017

Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma.

Tseng IC et al.

The Journal of Pathology, 2017

Mechanisms of Aberrant PKA Activation by Cα Subunit Mutations.

Calebiro D et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2017

Clinical characteristics of PRKACA mutations in Chinese patients with adrenal lesions: a single-centre study.

Li X et al.

Clinical Endocrinology, 2016

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

Ronchi CL et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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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."