91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
24 citations
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September 2005 in “Journal of Cellular Biochemistry” This study found that all-trans and 9-cis retinoic acids increase steroid sulfatase activity in HL60 cells through mechanisms involving RARα/RXR heterodimers and multiple signaling pathways.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
11 citations
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July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.