Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.L104R
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ATP1A1

NM_000701.8:p.L104R

Associated Papers

Adrenal histologic and genetic characteristics of primary aldosteronism in late adulthood.

Blinder AR et al.

European Journal of Endocrinology, 2026

Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.

Maeda LK et al.

Archives of Endocrinology and Metabolism, 2025

Two-hit model for the development of aldosterone-producing adenoma: supporting from two new cases.

Gao Y et al.

Journal of Hypertension, 2025

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

Caroccia B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.

Immanneni C et al.

Neurology. Genetics, 2024

Mutational landscape of cancer-driver genes across human cancers.

Sinkala M

Scientific Reports, 2023

37550388 (PubMed )
Supplement: 41598_2023_39608_MOESM6_ESM.xlsx › Sheet1

Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.

Wu X et al.

Nature Genetics, 2023

37291193 (PubMed )
Supplement: 41588_2023_1403_MOESM1_ESM.pdf

Hypomethylation associated vitamin D receptor expression in ATP1A1 mutant aldosterone-producing adenoma.

Nanao Y et al.

Molecular and Cellular Endocrinology, 2022

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

Primary aldosteronism: Pathophysiological mechanisms of cell death and proliferation.

Tetti M 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

Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism.

Wu CH et al.

Biomedicines, 2021

34572353 (PubMed )
Supplement: biomedicines-09-01167-s001.zip › biomedicines-1321403-supplementary.pdf

Single-Center Prospective Cohort Study on the Histopathology, Genotype, and Postsurgical Outcomes of Patients With Primary Aldosteronism.

Meyer LS et al.

Hypertension (dallas, Tex. : 1979), 2021

Somatic mutations in adrenals from patients with primary aldosteronism not cured after adrenalectomy suggest common pathogenic mechanisms between unilateral and bilateral disease.

Hacini I et al.

European Journal of Endocrinology, 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

Functional Characteristic and Significance of Aldosterone-Producing Cell Clusters in Primary Aldosteronism and Age-Related Hypertension.

Pauzi FA et al.

Frontiers in Endocrinology, 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

Prevalence of Somatic Mutations in Aldosterone-Producing Adenomas in Japanese Patients.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.

Vaduva P et al.

Journal of the Endocrine Society, 2020

Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma.

De Sousa K et al.

Hypertension (dallas, Tex. : 1979), 2020

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Stregapede F et al.

Clinical Genetics, 2020

Endoplasmic Reticulum Chaperone Calmegin Is Upregulated in Aldosterone-Producing Adenoma and Associates With Aldosterone Production.

Itcho K et al.

Hypertension (dallas, Tex. : 1979), 2020

Genetic causes of primary aldosteronism.

Seidel E et al.

Experimental & Molecular Medicine, 2019

Molecular mechanisms in primary aldosteronism

De Sousa K et al.

Journal of Molecular Endocrinology, 2019

RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas.

Backman S et al.

Scientific Reports, 2019

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

Meyer DJ et al.

Biochemistry, 2019

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Nanba K et al.

Hypertension (dallas, Tex. : 1979), 2019

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

Sweadner KJ et al.

Neurology. Genetics, 2019

Understanding the impacts of missense mutations on structures and functions of human cancer-related genes: A preliminary computational analysis of the COSMIC Cancer Gene Census.

Malhotra S et al.

Plos One, 2019

Timeline of Advances in Genetics of Primary Aldosteronism.

Meyer LS et al.

Experientia Supplementum (2012), 2019

[Clinical and genetic features of Kallmann syndrome: an analysis of 5 cases].

Chen J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Genetic Characterization of GnRH/LH-Responsive Primary Aldosteronism.

Gagnon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

Mouse Models of Primary Aldosteronism: From Physiology to Pathophysiology.

Aragao-Santiago L et al.

Endocrinology, 2017

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

Meyer DJ et al.

The Journal of General Physiology, 2017

Aldosterone-Producing Cell Clusters Frequently Harbor Somatic Mutations and Accumulate With Age in Normal Adrenals.

Omata K et al.

Journal of the Endocrine Society, 2017

Of channels and pumps: different ways to boost the aldosterone?

Bandulik S

Acta Physiologica (oxford, England), 2017

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL et al.

Journal of Molecular Endocrinology, 2017

The prevalence of CTNNB1 mutations in primary aldosteronism and consequences for clinical outcomes.

Wu VC et al.

Scientific Reports, 2017

The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease.

Clausen MV et al.

Frontiers in Physiology, 2017

Expression of CYP11B2 in Aldosterone-Producing Adrenocortical Adenoma: Regulatory Mechanisms and Clinical Significance.

Nakamura Y et al.

The Tohoku Journal of Experimental Medicine, 2016

Expression of inflammation-related genes in aldosterone-producing adenomas with KCNJ5 mutation.

Murakami M et al.

Biochemical and Biophysical Research Communications, 2016

Molecular Heterogeneity in Aldosterone-Producing Adenomas.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations.

Kitamoto T et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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