Human MutationBray PJ, Cotton RG. Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum Mutat 2003, 21: 557–68.Bray P, Cotton R (2003) Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro ...
19. Completegrgene silencing is also likely not attained in an adult viable mutant zebrafish strain, namedgrs357/s357, in which a single base-pair mutation in the DNA-binding domain (DBD) disrupts GRE-dependent activity,
One novel mutation (Ala229Thr) was identified in a Hispanic individual. Linkage disequilibrium (LD) was strongest between polymorphisms spanning intron 2 to exon 9β. This data shows the variability of NR3C1 polymorphism frequencies between racial groups and confirms that NR3C1 non-synonymous coding ...
We have described a novel heterozygous mutation of the NR3C1 gene associated with primary GGRS. This case highlights the importance of raising awareness of clinical and laboratory features of this rare disorder, to enable early diagnosis and avoid unnecessary and potentially dangerous diagnostic and ...
2009. Mutation screen and association analysis of the glucocorticoid receptor gene (NR3C1) in childhood-onset mood disorders (COMD). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 150B(6): 866-73.Mill, J., Wigg, K., Burcescu, I., Vetro, A., Kiss, E., Kaporn...
2009. Mutation screen and association analysis of the glucocorticoid receptor gene (NR3C1) in childhood-onset mood disorders (COMD). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 150B(6): 866-73.Mill, J., Wigg, K., Burcescu, I., Vetro, A., Kiss, E., Kaporn...
( 2004 ) Identification of polymorphisms in the human glucocorticoid receptor gene (NR3C1) in a multi-racial asthma case and control screening panel . DNA Seq 15 , 167 – 173 .Hawkins GA, Amelung PJ, Smith RS, Jongepier H, Howard TD, Koppelman GH, Meyers DA, Bleecker ER, Postma DS ...
The differences in gene expression patterns between the zebrafish gr knock-out and the gr(s357) mutant line, in which a point mutation prevents binding of the receptor to the hormone-responsive elements, reveal an intricate network of GC-dependent transcription. Particularly, we show that Stat3 ...
The differences in gene expression patterns between the zebrafish gr knock-out and the grs357 mutant line, in which a point mutation prevents binding of the receptor to the hormone-responsive elements, reveal an intricate network of GC-dependent transcription. Particularly, we show that Stat3 ...