Results 131 to 140 of about 15,002 (209)

FMR1 Disorders: Basics of Biology and Therapeutics in Development

Cells
Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed
Drew A. Gillett, Helene Tigro, Yuan Wang, Zucai Suo   +3 more
doaj   +1 more source

Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments

, 2005
The fragile X syndrome is caused by a >200 CGG repeat expansion within the FMR1 gene promoter, with consequent DNA hypermethylation and inactivation of its expression. To further clarify the mechanisms that suppress the activity of the mutant gene and
Giovanni Neri, Elisabetta Tabolacci, Umberto Moscato, Pietro Chiurazzi   +3 more
core   +1 more source

Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice

Molecular Autism
Background Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects.
Mehdi Hooshmandi, David Ho-Tieng, Kevin C. Lister, Weihua Cai, Calvin Wong, Nicole Brown, Jonathan Fan, Volodya Hovhannisyan, Sonali Uttam, Masha Prager-Khoutorsky, Nahum Sonenberg, Christos G. Gkogkas, Arkady Khoutorsky   +12 more
doaj   +1 more source

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis. [PDF]

Genes (Basel), 2022
Rodrigues B, Gonçalves A, Sousa V, Maia N, Marques I, Vale-Fernandes E, Santos R, Nogueira AJA, Jorge P.   +8 more
europepmc   +1 more source

FMR1 Gene [PDF]

, 2020
openaire   +1 more source

Epigenetic insights into Fragile X Syndrome

Frontiers in Cell and Developmental Biology
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie, Liangqun Xie, Huiying Li, MengLiang Xiao, Ningjing Chen, Xiaoxiao Zang, Yingying Liu, Hong Ye, Chaogang Tang   +8 more
doaj   +1 more source

Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis

, 1997
SummaryFragile X syndrome is associated with silencing of the FMR1 gene. We studied the transcriptional regulation, by analysis of the FMR1 promoter region for the presence of in vivo protein/DNA interactions and for cyto-sine methylation at the single ...
Wohrle, D, Wohrle, Doris, Just, Walter, Oostra, Ben A., Kennerknecht, I, Just, W, Steinbach, Peter, Vogel, Walther, Schwemmle, S, Deissler, H, Deissler, Heidrun, Graaff, Esther, Dorfler, Walter, Vogel, W, Schwemmle, Sabine, Dorfler, W, Kennerknecht, Ingo, De Graaff, Esther, Gläser, Dieter, Glaser, D, Oostra, Ben, Steinbach, P   +21 more
core   +1 more source

Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers. [PDF]

Neuroimage Clin, 2020
McKinney WS, Bartolotti J, Khemani P, Wang JY, Hagerman RJ, Mosconi MW.   +5 more
europepmc   +1 more source

Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice

, 2017
Fragile X syndrome is one of the most common genetic causes of mental retardation, yet the mechanisms controlling expression of the fragile X mental retardation gene FMR1 are poorly understood.
Schaffner, Walter, Gassmann, Max, Matsuo, Koichi, Lüscher, Bernhard, Aguzzi, Adriano, Hergersberg, Martin, Rülicke, Thomas   +6 more
core  

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation. [PDF]

Eur J Hum Genet, 2020
Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Nobile V, Pennacchio G, Gurrieri F, Neri G, Genuardi M, Chiurazzi P.   +9 more
europepmc   +1 more source