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FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve

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Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5’-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population. CGG-repeat-lengths with 55-200 repeats (pre-mutation = PM) show instable here...

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Hauptverfasser: Rehnitz, Julia (VerfasserIn) , Alcoba, Diego Duarte (VerfasserIn) , Dietrich, Jens Erik (VerfasserIn) , Youness, Berthe (VerfasserIn) , Hinderhofer, Katrin (VerfasserIn) , Messmer, Birgitta (VerfasserIn) , Freis, Alexander (VerfasserIn) , Strowitzki, Thomas (VerfasserIn) , Germeyer, Ariane (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 7 July 2018
In: Reproductive biology and endocrinology
Year: 2018, Jahrgang: 16
ISSN:1477-7827
DOI:10.1186/s12958-018-0383-5
Online-Zugang:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1186/s12958-018-0383-5
Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s12958-018-0383-5
Volltext
Verfasserangaben:Julia Rehnitz, Diego D. Alcoba, Ilma S. Brum, Jens E. Dietrich, Berthe Youness, Katrin Hinderhofer, Birgitta Messmer, Alexander Freis, Thomas Strowitzki and Ariane Germeyer
Beschreibung
Zusammenfassung:Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5’-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population. CGG-repeat-lengths with 55-200 repeats (pre-mutation = PM) show instable heredity with a tendency to increase and are associated with premature-ovarian-insufficiency or failure (POI/POF) in about 20%. FMR1-mRNA-expression in leucocytes and granulosa cells (GCs) increases with CGG-repeat-length in PM-carriers, but variable FMR1-expression profiles were also described in women with POI without PM-FMR1 repeat-length. Additionally, associations between low numbers of retrieved oocytes and elevated FMR1-expression levels have been shown in GCs of females with mid-range PM-CGG-repeats without POI. Effects of FMR1-repeat-lengths-deviations (n < 26 or n > 34) below the PM range (n < 55) on ovarian reserve and response to ovarian stimulation remain controversial.
Beschreibung:Gesehen am 26.07.2018
Beschreibung:Online Resource
ISSN:1477-7827
DOI:10.1186/s12958-018-0383-5

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