Results 91 to 100 of about 8,344 (152)

Associations Between Rate Of Speech And Cardiac Arousal Within Females That Express The Fmr1 Premutation

, 2016
The focus of this research is on women who have the FMR1 gene premutation. Those with the premutation are “carriers” of the fragile X mutation. The FMR1 premutation is highly prevalent within the United States, affecting 1 in every 151 women.
Harris, Emma
core   +1 more source

Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan

BMC Genomic Data
Objective To determine CGG repeat numbers in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene among 1,146 women of childbearing age in Northeast Sichuan, China, and to describe regional carrier prevalence. Methods A total of 1146 cases of women of
Liping Chen, Xuemei Zhang, Yi Song, Li Chen, Yongjun He, Yang Li, Yan Cai, Qi Shi   +7 more
doaj   +1 more source

Methylated FMR1 DNA (%) in granulosa cells according to the number of CGG repeats in premutation carriers (55–200) and full mutation (>200).

, 2014
Methylated FMR1 DNA (%) in granulosa cells according to the number of CGG repeats in premutation carriers (55–200) and full mutation (>200).
Oshrit Lebovitz (621449), Raoul Orvieto (621454), Yoram Cohen (267115), Shai E. Elizur (621448), Olga Dratviman-Storobinsky (621451), Sanaz Derech-Haim (621450), Jehoshua Dor (621453), Baruch Feldman (621452)   +7 more
core   +1 more source

Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X‐associated tremor/ataxia syndrome

Annals of Clinical and Translational Neurology
Objective Mitochondrial impairments have been implicated in the pathogenesis of Fragile X‐associated tremor/ataxia syndrome (FXTAS) based on analysis of mitochondria in peripheral tissues and cultured cells.
Pamela J. Yao, Apostolos Manolopoulos, Erden Eren, Susan Michelle Rivera, David R. Hessl, Randi Hagerman, Veronica Martinez‐Cerdeno, Flora Tassone, Dimitrios Kapogiannis   +8 more
doaj   +1 more source

Methylated FMR1 DNA (%) in granulosa cells in women with normal CGG repeats (<55), premutation carriers (55–200) and full mutation (>200).

, 2014
Methylated FMR1 DNA (%) in granulosa cells in women with normal CGG repeats (200).
Oshrit Lebovitz (621449), Raoul Orvieto (621454), Yoram Cohen (267115), Shai E. Elizur (621448), Olga Dratviman-Storobinsky (621451), Sanaz Derech-Haim (621450), Jehoshua Dor (621453), Baruch Feldman (621452)   +7 more
core   +1 more source

Differential usage of transcriptional start site and polyadenylation site in FMR1 premutation alleles.

, 2011
5'- and 3'-untranslated regions (UTRs) are important regulators of gene expression and play key roles in disease progression and susceptibility. The 5'-UTR of the fragile X mental retardation 1 (FMR1) gene contains a CGG repeat element that is expanded (>
Carosi C, Serpa G, BAGNI, CLAUDIA, De Rubeis, Raske C, Tassone F, De Rubeis, La Fata G., Carosi C, Serpa G, Raske C, Willemsen R, Hagerman PJ and Bagni C (2011)., Willemsen R, La Fata G., Hagerman PJ, Tassone F   +9 more
core   +1 more source

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions

eNeurologicalSci
Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome
Kunihiko Ishizawa, Kentaro Hashimoto, Hironori Oka, Takashi Sugawara, Masakuni Amari, Takeshi Kawarabayashi, Koichi Okamoto, Chisato Tamai, Jun Sone, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +11 more
doaj   +1 more source

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation

Neurobiology of Disease
Fragile X-associated tremor/ataxia syndrome (FXTAS), caused by the FMR1 premutation allele, is associated with brain degeneration, yet the mechanisms behind this neurodegeneration still need to be elucidated.
Poonnada Jiraanont, Jun Yi Wang, Blythe Durbin-Johnson, Ye Hyun Hwang, David Hessl, Susan M. Rivera, Randi J. Hagerman, Flora Tassone   +7 more
doaj   +1 more source

Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control. [PDF]

Exp Brain Res, 2023
Friedman L, Lauber M, Behroozmand R, Fogerty D, Kunecki D, Berry-Kravis E, Klusek J.   +6 more
europepmc   +1 more source

The Relationship Between General Anxiety and Language Dysfluencies in Mothers with the FMR1 Premutation

, 2017
The FMR1 premutation is an X-linked genetic mutation that causes an increase in CGG repeats on the FMR1 gene. This mutation affects one in every 151 females.
Nolan, Haley
core   +1 more source