Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Autoimmune thyroid disease (AITD) refers to a spectrum of various diseases, with two
extremes of clinical presentation, hypothyroidism (Hashimoto's thyroiditis (HT) and …

Background: An in-depth understanding of the fundamental principles that regulate thyroid
hormone homeostasis is critical for the development of new diagnostic and treatment …

Background Hypertension and bronchial asthma are a major issue for people's health. As of
2014, approximately one billion adults, or~ 22% of the world population, have had …

Abstract Background The 2015 American College of Medical Genetics and Genomics
(ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence …

Background: Thyroid diseases are the most common endocrine pathologies second to
diabetes. They have been shown to have high genetic impact, and variants in any of the …

Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …

Comorbid states of diseases significantly complicate diagnosis and treatment. Molecular
mechanisms of comorbid states of asthma and hypertension are still poorly understood …

Adequate iodide supply and metabolism are essential for thyroid hormones synthesis. In
thyrocytes, iodide uptake is mediated by the sodium-iodide symporter, but several proteins …