Associated Papers
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Ezell KM et al.
American Journal of Medical Genetics. Part A, 2024
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
Wu X et al.
Nature Genetics, 2023
Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways.
Nagy ZF et al.
Biomedicines, 2023
Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.
Nanba K et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.
Santana LS et al.
Frontiers in Endocrinology, 2022
Characteristics of a Novel ATP2B3 K416_F418delinsN Mutation in a Classical Aldosterone-Producing Adenoma.
Liao HW et al.
Cancers, 2021
Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.
Shimada H et al.
Biomedicines, 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
Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma.
De Sousa K et al.
Hypertension (dallas, Tex. : 1979), 2020
Genetic causes of primary aldosteronism.
Seidel E et al.
Experimental & Molecular Medicine, 2019
Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.
Nanba K et al.
Hypertension (dallas, Tex. : 1979), 2019
Cellular and Genetic Causes of Idiopathic Hyperaldosteronism.
Omata K et al.
Hypertension (dallas, Tex. : 1979), 2018
Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.
Pinggera A et al.
Channels (austin, Tex.), 2018
Genetic Causes of Functional Adrenocortical Adenomas.
Zennaro MC et al.
Endocrine Reviews, 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
Histopathological Classification of Cross-Sectional Image-Negative Hyperaldosteronism.
Yamazaki Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Genetics of primary hyperaldosteronism.
Dutta RK et al.
Endocrine-related Cancer, 2016
Molecular Heterogeneity in Aldosterone-Producing Adenomas.
Nanba K et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.
Fernandes-Rosa FL et al.
Hypertension (dallas, Tex. : 1979), 2015
Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.
Wang B et al.
Medicine, 2015
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.
Monticone S et al.
Molecular and Cellular Endocrinology, 2015
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
Fernandes-Rosa FL 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