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three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA, are reported.
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We have identified RORalpha as a regulator of Treg genes responsible for suppressing allergic skin inflammation and also documented higher expression of RORalpha in skin-resident Tregs than in peripheral blood circulating Tregs in humans, suggesting that RORalpha and the TL1A-DR3 circuit could be therapeutically targeted in atopic dermatitis.
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RORA downregulation may be a potential indicator of positive response to interferon beta treatment of multiple sclerosis patients
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In the present study we have detected an association between rs4774388 genotype and breast cancer risk in a population of Iranian breast cancer patients.
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rs4774388-TT genotype was significantly higher in patients compared with controls and was associated with autism spectrum disorder risk in dominant inheritance model
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human melanoma development and aggressiveness is associated with decreased expression of RORalpha and RORgamma, suggesting that RORs could be important in melanoma progression and host responses against the tumor
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CYP11A1- derived hydroxyvitamin D derivatives as "inverse" agonists on ROR-alpha and ROR-gamma.
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The expression RORalpha is significantly elevated under hypoxic conditions in keratinocytes in an HIF-1alpha dependent manner.
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RORgammat and RORalpha have overlapping roles in human Th17 cell differentiation through regulation of a defined common set of Th17 genes
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Retinoid-related orphan receptor alpha-regulated development of the mouse cerebellum has a distinct critical period for (1) lengthening Purkinje cell (PC) primary dendrite stems and the eventual increase in the thickness of the molecular layer and (2) the establishment of mGluR signaling and associated removal of surplus climbing fibers from PCs.
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findings strongly suggest that CLDND1 is a direct RORalpha target
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TRIB3 promotes acute promyelocytic leukemia progression through stabilization of the oncoprotein PML-RARalpha and inhibition of p53-mediated senescence.
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Retinoid-related orphan receptor alpha (RORalpha) reduction occurs in gastric cancer leading to the survival of tumor cells, which is attenuated by AMP-activated protein kinase (AMPK), therefore, both RORalpha and AMPK are potential targets for the intervention and therapy in gastric carcinoma.
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the RAR-related orphan receptor-a gene (RORA) and the Peroxisome Proliferator-Activated Receptor Gamma, Coactivator 1 Alpha gene (PPARGC1A or PGC-1alpha) were significantly associated with the Li response. Our results suggest genetic associations between Li response and these two close biological partners: PPARGC1A and RORA involved in circadian rhythms and bioenergetics processes in Li response
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The present study is to determine if any relation exists between RORA rs11639084 and rs4774388 gene polymorphisms on the individual susceptibility of multiple sclerosis.
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ROR-alpha may regulate signaling receptor activity, and transmembrane transport activity through its potential target genes.
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Association between RORA gene polymorphisms and the DSM-5 posttraumatic stress disorder symptoms in male earthquake survivors in China.
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this animal model study suggests that the NR, RORalpha4, has a critical regulatory role in the phenotype associated with decreased subcutaneous fat deposition, fatty liver and impaired glucose tolerance.
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The RORA intronic SNP rs11632098 was associated with greater odds of reporting depressive symptoms in older adults.
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A common SNP in the RORA gene (rs2899663) was associated with a 21% reduced odds of placental abruption.
