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Updated: Jun 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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在NR3C1基因的新型突变与可逆性葡萄糖皮质激素耐药性相关

Margaux Laulhé1, Emmanuelle Kuhn2, Jérôme Bouligand1,3

  • 1Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, 94276 Le Kremlin-Bicêtre, France.

European journal of endocrinology
|April 8, 2024
PubMed
概括

一种新的葡萄糖皮质体受体变体 (GRR569Q) 导致可逆的葡萄糖皮质体耐药性. 这种罕见的内分泌综合征涉及基因表达和核转位受损,但较高的皮质醇水平可以克服耐药性.

关键词:
这种基因是NR3C1基因.上腺腺瘤腺瘤葡萄糖皮质类受体受体葡萄糖皮质类药物耐药综合征

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Reverse Yeast Two-hybrid System to Identify Mammalian Nuclear Receptor Residues that Interact with Ligands and/or Antagonists10:51

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Transducer Mechanism: Nuclear Receptors01:31

Transducer Mechanism: Nuclear Receptors

Nuclear receptors, or NRs, are unique transcription factors that regulate gene transcription and affect the cellular pathways involved in reproduction, development, or metabolism. Their ability to be stimulated by small lipophilic ligands and control vital cellular processes makes them ideal drug targets. Nearly 10-15% of currently prescribed drugs target these receptors.
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:
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NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
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