Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
نویسندگان
چکیده
منابع مشابه
Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice
Since estrogen is thought to protect pre-menopausal women from age-related hearing loss, we investigated whether variation in estrogen-signalling genes is linked to hearing status in the 1958 British Birth Cohort. This analysis implicated the estrogen-related receptor gamma (ESRRG) gene in determining adult hearing function and was investigated further in a total of 6134 individuals in 3 indepe...
متن کاملESRRG ( estrogen - related receptor gamma )
ERRgamma has 4 coding and 1 (presumed) non-coding transcript variants. ERRgamma transcript variant 1 (NCBI, NM_001438) is the longest isoform, while ERRgamma transcript variant 2 (NM_206594) utilizes an alternate 5' UTR and lacks the first 23 amino acids of the coding sequence of variant 1 (Heard et al., 2000). In 2006, a third splice variant (ERRgamma3, NM_206595) was identified (Kojo et al., ...
متن کاملHearing Loss Related Quality of Life in Adolescents with Hearing Loss
Objectives: Quality of life, when referring to an individual’s health, is called health-related quality of life. The purpose of this study is to assess self-perceived hearing loss related quality of life of adolescents with hearing loss and its relationship with sex, age sub-groups or school settings with domains of quality of life. Methods: A school based survey was conducted in Tehra...
متن کاملInner ear pathology and loss of hearing in estrogen receptor-beta deficient mice.
There are well known differences between males and females in hearing. In the present study, the role of estrogen receptor-beta (ER-beta; listed as ESR2 in the MGI Database) in hearing was investigated by comparing hearing and morphology of the inner ear in ER-beta knock-out mice (ER-beta(-/-)) with that of wild-type (WT) littermates. Hearing was analyzed with auditory brainstem response audiom...
متن کاملIdentification of Estrogen Receptor-Related Receptor Gamma as a Direct Transcriptional Target of Angiogenin
Nuclear translocation of angiogenin (ANG) is essential for the proliferation of its target cells. ANG promotes rRNA synthesis, while whether it regulates mRNA transcription remains unknown. Using the chromatin immunoprecipitation method, we have identified 12 ANG-binding sequences. One of these sequences lies in the estrogen receptor-related receptor gamma (ERRγ) gene which we designated as ANG...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2016
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.64