Results 111 to 120 of about 2,751,167 (169)

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

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

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

The role of FMR1 gene and autoimmunity in infertility [PDF]

, 2015
Introduction: The importance of genetic polymorphisms and autoimmune factors in infertility is still uncertain. The long arm of chromosome X is important in the control of functional ovarian reserve and the FMR1 gene at Xq17.3 is known to be associated ...
Said, Edith, IX Malta Medical School Conference, Mabrok Gherbal, Naema   +2 more
core  

Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages

, 2017
Up to 50% of recurrent miscarriage cases in women occur without an underlying etiology. In the current prospective case–control study, we determined the impact of CGG trinucleotide expansions of the fragile-X mental retardation 1 (FMR1) gene in 49 women ...
Qing-chun Li, Xiang-hui Zhang, Xin-hua Wang, Yan-lin Wang, Tong Li, Xiao-hua Song, Xiao-hui Deng, Xing-hua Diao   +7 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

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

Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion. [PDF]

J Assist Reprod Genet, 2019
Dean DD, Agarwal S, Muthuswamy S.
europepmc   +1 more source

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]

Mol Genet Genomic Med
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc   +1 more source

Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers. [PDF]

Front Integr Neurosci, 2019
McKinney WS, Wang Z, Kelly S, Khemani P, Lui S, White SP, Mosconi MW.   +6 more
europepmc   +1 more source