Article
Phenotypic analysis of mice carrying human-type MAFB p.Leu239Pro mutation.
Biochemical and biophysical research communications - 5 Mar 2020
Kanai Maho, Jeon Hyojung, Ojima Masami, Nishino Teppei, Usui Toshiaki, Yadav Manoj Kumar, Kulathunga Kaushalya, Morito Naoki, Takahashi Satoru, Hamada Michito
Abstract excerpt
The transcription factor, MafB, plays important role in the differentiation and functional maintenance of various cells and tissues, such as the inner ear, kidney podocyte, parathyroid gland, pancreatic islet, and macrophages. The rare heterozygous substitution (p.Leu239Pro) of the DNA binding domain in MAFB is the cause of Focal Segmental Glomerulosclerosis associated with Duane Retraction Syndrome, which is...
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