62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
506 citations
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January 2012 in “Molecular and Cellular Endocrinology” This review details the expression and diverse functions of melatonin receptors in non-neural tissues and reports no new clinical findings, emphasizing their potential as therapeutic targets across various physiological and pathological processes.
82 citations
,
October 2019 in “Frontiers in Immunology” This review discusses the features of regulatory T cells and the modulation of Foxp3, emphasizing post-translational modifications' impact on Treg function but reports no new clinical results.