SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland
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چکیده
منابع مشابه
SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland
Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL). However, the SLC26A4 hyperactivity was recently associated with the emergence of autoimmune thyroid diseases (AITD) and asthma among human and mouse model. Here, by direct sequencing, we inves...
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nomously functioning thyroid nodule 505 InTROduCTIOn Diagnostic procedures for thyroid disorder include bio chemical evaluation: measurement of serum thyrotropin (TSH), free thyroid hormone (free thyroxine [FT4], free triiodothyronine [FT3]) and thyroid antibody levels, as well as imaging including ultrasonography (USG) and thyroid scan. In some cases fine needle aspiration bio psy (FNAB) shoul...
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BACKGROUND Pendred syndrome (PDS) is an autosomal recessive disorder characterized by sensorineural hearing impairment and variable degree of goitrous enlargement of the thyroid gland with a partial defect in iodine organification. The thyroid function phenotype can range from normal function to overt hypothyroidism. It is caused by loss-of-function mutations in the SLC26A4 (PDS) gene. The seve...
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The size and shape of the thyroid gland is subject to much variation, as stated by Wood Jones. Literature is replete with a large number of variations of the gland. By utilizing various techniques like gross dissection, histology, developmental anatomy, and recently thyroid scans and scintigraphy, some common and certain rare anomalies of the thyroid with their possible developmental bases are ...
متن کاملAnatomical variations of the thyroid gland: possible surgical implications.
INTRODUCTION The organogenesis of the thyroid gland in humans is often disturbed, leading to a variety of morphological variations of the gland, such as hypoplasia, ectopy, hemiagenesis and agenesis. As the morphological variations are usually diagnosed incidentally during examination for other thyroid gland diseases, the true incidence is therefore uncertain. METHODS This study was structure...
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ژورنال
عنوان ژورنال: Disease Markers
سال: 2010
ISSN: 0278-0240,1875-8630
DOI: 10.1155/2010/327518