Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation
, 2009 Expansion of the CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene within the premutation range is one of the known genetic factors associated with premature ovarian failure and earlier age at ...
Van Esch, Hilde +3 more
core +1 more source
Functional motor control deficits in older FMR1 premutation carriers.
, 2019 Individuals with fragile X mental retardation 1 (FMR1) gene premutations are at increased risk for fragile X-associated tremor/ataxia syndrome (FXTAS) during aging.
Christou, Evangelos A +6 more
core +1 more source
FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese.
PLoS ONE, 2014 BackgroundIn premature ovarian failure (POF), cessation of menstruation occurs before the expected age of menopause. Approximately 1% of women are affected.
Ting Guo +5 more
doaj +1 more source
Fibroblast phenotype in male carriers of FMR1 premutation alleles
, 2010 Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Iwahashi, C +16 more
core +1 more source
Reduced Eye Contact and Anxiety in Women with the FMR1 Premutation [PDF]
, 2017 Background. Mothers of children with fragile X syndrome (FXS) have the FMR1 premutation, which affects approximately 1 in 151 women (Seltzer et al., 2012).
Ruber, Alexis
core +1 more source
Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
Molecular Autism, 2010 Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP).
Hagerman Randi, Hoem Gry, Hagerman Paul
doaj +1 more source
Symptoms of Tremor In Women With the FMR1 Premutation
, 2020 Fragile X Syndrome is a genetic disorder caused by a mutation on the X chromosome and is known to be one of the leading causes of autism. Our research dealt with carriers of the Fragile X Mental Retardation 1 (FMR1) premutation, or, more specifically ...
Tindal, Emily, Johnson, Gabriella
core
Differential increases of specific FMR1 mRNA isoforms in premutation carriers [PDF]
, 2015 BackgroundOver 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an adult onset neurodegenerative disorder, while about 20% of female carriers will develop ...
Tang, Hiu-Tung +8 more
core +1 more source
FMRP Associates with Cytoplasmic Granules at the Onset of Meiosis in the Human Oocyte.
PLoS ONE, 2016 Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women.
Roseanne Rosario +6 more
doaj +1 more source
Fragile X Premutation: Medications, Therapy and Lifestyle Advice
Pharmacogenomics and Personalized Medicine, 2021 Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj