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J Clin Endocrinol Metab 2021 Feb 25. Epub 2021 Feb 25.

Section on Endocrinology & Genetics (SEGEN), Bethesda, MD, USA.

Context: Pathogenic variants in KCNJ5, encoding the GIRK4 (Kir3.4) potassium channel, have been implicated in the pahogenesis of familial hyperaldosteronism (FH) type-III (FH-III) and sporadic primary hyperaldosteronism (PA). In addition to aldosterone, glucocorticoids (GCs) are often found in PA in association with KCNJ5 pathogenic variants, albeit at subclinical levels. Read More

Brain Dev 2021 Mar 14;43(3):470-474. Epub 2020 Nov 14.

Department of Biochemistry, Hamamatsu University School of Medicine, Japan.

Background: The periodic paralyses are a group of skeletal muscle channelopathies caused by variants in several ion channel genes. Potassium Inwardly Rectifying Channel Subfamily J Member 5 (KCNJ5) encodes the G-protein-activated inwardly rectifying potassium channel 4 (Kir3.4) and the heterozygous KCNJ5 variants cause familial hyperaldosteronism and long QT syndrome (LQTS). Read More

Am J Hypertens 2020 02;33(2):124-130

Section on Genetics & Endocrinology, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

Background: Somatic variants in KCNJ5 are the most common cause of primary aldosteronism (PA). There are few patients with PA in whom the disease is caused by germline variants in the KCNJ5 potassium channel gene (familial hyperaldosteronism type III-FH-III).

Methods: A 5-year-old patient who developed hypertension due to bilateral adrenocortical hyperplasia (BAH) causing PA had negative peripheral DNA testing for any known genetic causes of PA. Read More

Hypertens Res 2019 10 6;42(10):1536-1543. Epub 2019 Aug 6.

Hypertension Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.

The genetic factors related to early-onset hypertension are largely unknown. This study aimed to determine the spectrum of steroid metabolism gene variants and the clinical relationships of these variants to phenotypes in Chinese patients with early-onset hypertension. A total of 306 consecutive early-onset hypertensive patients were recruited. Read More

Endocr Relat Cancer 2019 04 1;26(4):463-470. Epub 2019 Feb 1.

Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, Michigan, USA.

Somatic variants in genes that regulate intracellular ion homeostasis have been identified in aldosterone-producing adenomas (APA). Although the mechanisms leading to an increased aldosterone production in APA cells has been well studied, the molecular events that cause cell proliferation and tumor formation are poorly understood. In the present study, we have performed whole exome sequencing (WES) to characterize the landscape of somatic alterations in a homogeneous series of APA with pathogenic KCNJ5 variants. Read More