Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.G99R
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ATP1A1

NM_000701.8:p.G99R

Associated Papers

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Progress on Genetic Basis of Primary Aldosteronism.

Karwacka I et al.

Biomedicines, 2021

ATP1A1 Mutant in Aldosterone-Producing Adenoma Leads to Cell Proliferation.

Kobuke K et al.

International Journal of Molecular Sciences, 2021

Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.

Biondo ED et al.

American Journal of Physiology. Cell Physiology, 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

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Molecular mechanisms in primary aldosteronism

De Sousa K et al.

Journal of Molecular Endocrinology, 2019

Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function.

Meyer DJ et al.

Biochemistry, 2019

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.

Sweadner KJ et al.

Neurology. Genetics, 2019

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

On the effect of hyperaldosteronism-inducing mutations in Na/K pumps.

Meyer DJ et al.

The Journal of General Physiology, 2017

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

Pathogenesis of Adrenal Aldosterone-Producing Adenomas Carrying Mutations of the Na(+)/K(+)-ATPase.

Stindl J et al.

Endocrinology, 2015

Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas.

Gomez-Sanchez CE et al.

Molecular and Cellular Endocrinology, 2015

Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2014

Overview of the genetic determinants of primary aldosteronism.

Al-Salameh A et al.

The Application of Clinical Genetics, 2014

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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."