Browsing Centre for Endocrinology by Author "Guo, M"
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MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo, D; Flanagan, SE; Walker, E; Quezado, R; de Sousa Barros, FA; Caswell, R; Johnson, MB; Wakeling, M; Brändle, M; Guo, M (2018-01-30)The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ... -
A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes
Iacovazzo, D; Flanagan, SE; Walker, E; Caswell, R; Brandle, M; Johnson, M; Wakeling, M; Guo, M; Dang, MN; Gabrovska, P -
Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males.
Walker, EM; Cha, J; Tong, X; Guo, M; Liu, J-H; Yu, S; Iacovazzo, D; Mauvais-Jarvis, F; Flanagan, SE; Korbonits, M (2021-10-12)A heterozygous missense mutation of the islet β cell-enriched MAFA transcription factor (p.Ser64Phe [S64F]) is found in patients with adult-onset β cell dysfunction (diabetes or insulinomatosis), with men more prone to ...