Results 91 to 100 of about 3,423 (189)

Gene Therapy for Fragile X Syndrome, Challenges, and Promises

The Journal of Gene Medicine, Volume 27, Issue 11, November 2025.
Supplying the functional protein product of the FMR1 gene to the brain is an attractive concept for curative treatment of Fragile X syndrome. Despite existing challenges, recent developments establish the basis for developing efficient gene therapy protocols for this condition.
Milen Velinov
wiley   +1 more source

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins [PDF]

Frontiers in Genetics, 2018
Mitochondrial dysfunction (MD) has been identified in lymphocytes, fibroblasts and brain samples from adults carrying a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene (premutation; PM); however, limited data are available on the bioenergetics of pediatric carriers.
Eleonora Napoli, Andrea Schneider, Andrea Schneider, Randi Hagerman, Randi Hagerman, Gyu Song, Sarah Wong, Flora Tassone, Flora Tassone, Cecilia Giulivi, Cecilia Giulivi   +10 more
openaire   +4 more sources

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, Volume 98, Issue 3, Page 471-481, September 2025.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

Elevated FMR1 mRNA in premutation carriers is due to increased transcription

, 2007
Carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene have levels of FMR1 mRNA that are elevated by as much as 10-fold in peripheral blood leukocytes and CNS tissue. The excess expanded-repeat mRNA, per se,
Hagerman, Paul J., Beilina, Alexandra, Beilina A., Glover, Kira, Glover K., Bentley D., Carosi C., Li, Lexin, Hagerman P. J., Tassone, Flora, Tassone F., Carosi, Chiara, Bentley, David, Li L., Bagni, Claudia, Tassone F., Beilina A., Carosi C., Albertosi S., Bagni C., Li L., Glover K., Bentley D., Hagerman P.J., Albertosi, Serena, Albertosi S.   +17 more
core   +1 more source

GADD45A is Essential for Granulosa Cells Differentiation and Ovarian Reserve in Human and Mice

Journal of Cellular and Molecular Medicine, Volume 29, Issue 17, September 2025.
ABSTRACT Diminished ovarian reserve (DOR) poses significant challenges in reproductive health, with emerging evidence implicating DNA damage repair pathways. While GADD45A is a critical regulator of DNA repair, cell cycle and apoptosis, its role in DOR pathogenesis remains unexplored. We employed transcriptome sequencing, qPCR and Western Blot analyses
Juncen Guo, Yuanyuan Hu, Qi Cao, Ying Zhang, Yihe Jia, Lan Liu, Yanru Zeng, Xiao Wu, Yuelin Song, Maosen Yang, Wenming Xu, Yang Hu, Wei Huang, Tian Tang   +13 more
wiley   +1 more source

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)

Scientific Reports, 2020
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55–200 CGG repeats in the Fragile X mental retardation (FMR1 ...
Marwa Zafarullah, Hiu-Tung Tang, Blythe Durbin-Johnson, Emily Fourie, David Hessl, Susan M. Rivera, Flora Tassone   +6 more
doaj   +1 more source

FMR1 premutation and full mutation molecular mechanisms related to autism [PDF]

, 2011
Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5′ un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein
Jacky Au, Hagerman, Paul, Au, Jacky, Hagerman, Randi, Randi Hagerman, Paul Hagerman   +5 more
core   +1 more source

Health problems in females carriers of premutation in the FMR1 gene

Psychiatria Polska, 2017
Nosicielstwo premutacji w genie FMR1 dotyczy 1 na 130-260 kobiet oraz 1 na 250-810 mężczyzn. Obecnie wiadomo, że nosiciele premutacji są w grupie ryzyka rozwinięcia spektrum zaburzeń neurologicznych, psychiatrycznych oraz immunologicznych w wieku dorosłym.
openaire   +2 more sources

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, Yingying Qin, Xue Jiao, Guangyu Li, Joe Leigh Simpson, Zi-Jiang Chen   +5 more
doaj   +1 more source