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Université de Fribourg

The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

Ilaslan, Erkut ; Markosyan, Renata ; Sproll, Patrick ; Stevenson, Brian J. ; Sajek, Malgorzata ; Sajek, Marcin P. ; Hayrapetyan, Hasmik ; Sarkisian, Tamara ; Livshits, Ludmila ; Nef, Serge ; Jaruzelska, Jadwiga ; Kusz-Zamelczyk, Kamila

In: International Journal of Molecular Sciences, 2020, vol. 21, no. 21, p. 8403

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome...

Université de Fribourg

Auxin-transporting ABC transporters are defined by a conserved D/E-P motif regulated by a prolylisomerase

Hao, Pengchao ; Xia, Jian ; Liu, Jie ; Donato, Martin Di ; Pakula, Konrad ; Bailly, Aurélien ; Jasinski, Michal ; Geisler, Markus

In: Journal of Biological Chemistry, 2020, vol. 295, no. 37, p. 13094–13105

The plant hormone auxin must be transported throughout plants in a cell-to-cell manner to affect its various physiological functions. ABCB transporters are critical for this polar auxin distribution, but the regulatory mechanisms controlling their function is not fully understood. The auxin transport activity of ABCB1 was suggested to be regulated by a physical interaction with FKBP42/Twisted...