Article

A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family via up-regulation of the PI3K-Akt signaling pathway

2022-03-19

Abstract excerpt

<h4>Background</h4> The fimbrin protein family contains a variety of proteins, of which Plastin1 (PLS1) is an important member. The latest researches show that variations in the coding region of PLS1 gene is related to the development of deafness. However, it remains unknown about the molecular mechanism of deafness caused by PLS1 gene variants. <h4>Methods</h4> whole exome sequencing was performed on the affe...

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Literature Corpus work: 6addeaf0-2d16-5934-bd97-ffa82e34dafe
DOI: 10.1101/2022.03.17.484618

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