Results 41 to 50 of about 3,423 (189)

Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population

Frontiers in Aging Neuroscience, 2023
ObjectiveThere is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD).
Juan Chen, Juan Chen, Yuwen Zhao, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jinchen Li, Jinchen Li, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Ranhui Duan, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Qiao Yu, Zhenhua Liu, Zhenhua Liu, Zhenhua Liu, Zhenhua Liu   +34 more
doaj   +1 more source

Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency

Reproductive and Developmental Medicine, 2017
Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method.
Qing Chen, Qi-Qi Wang, Bao-Zhu Cai, Xiao-Jun Ren, Feng Zhang, Xiao-Jin Zhang   +5 more
doaj   +1 more source

FMR1 alleles in women with idiopathic infertility

ABCS Health Sciences, 2022
Introduction: The frequency of the premutated alleles of the FMR1 gene varies from 1: 100 to 1: 260 Israeli, Canadian, Finnish and American women, but it is unknown in Brazil.
Mariana Mataruco Rodrigues, Bianca Bianco, Itatiana Ferreira Rodart, Caio Parente Barbosa, Denise Maria Christofolini   +4 more
doaj   +1 more source

Expanded clinical phenotype of women with the FMR1 premutation [PDF]

American Journal of Medical Genetics Part A, 2008
AbstractFragile X‐associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers.
Sarah M, Coffey, Kylee, Cook, Nicole, Tartaglia, Flora, Tassone, Danh V, Nguyen, Ruiqin, Pan, Hannah E, Bronsky, Jennifer, Yuhas, Mariya, Borodyanskaya, Jim, Grigsby, Melanie, Doerflinger, Paul J, Hagerman, Randi J, Hagerman   +12 more
openaire   +2 more sources

Altered expression of the FMR1 splicing variants landscape in premutation carriers [PDF]

, 2017
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder.
Tang, Hiu-Tung, Flora Tassone, AlOlaby, Reem Rafik, Reem Rafik AlOlaby, Tseng, Elizabeth, Luke Hickey, Hiu-Tung Tang, Tassone, Flora, Elizabeth Tseng, Hickey, Luke   +9 more
core   +1 more source

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms [PDF]

Brain Communications, 2021
Abstract CGG repeat expansions within the premutation range (55–200) of the FMR1 gene can lead to Fragile X-associated tremor/ataxia syndrome and Fragile X-associated neuropsychiatric disorders. These CGG repeats are translated into a toxic polyglycine-containing protein, FMRpolyG. Pathology of Fragile X-associated tremor/ataxia syndrome
Anke A Dijkstra, Saif N Haify, Niek A Verwey, Niels D Prins, Esmay C van der Toorn, Annemieke J M Rozemuller, Marianna Bugiani, Wilfred F A den Dunnen, Peter K Todd, Nicolas Charlet-Berguerand, Rob Willemsen, Renate K Hukema, Jeroen J M Hoozemans   +12 more
openaire   +6 more sources

Cardiovascular Problems in the Fragile X Premutation

Frontiers in Genetics, 2020
There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich, Nattaporn Tassanakijpanich, Jonathan Cohen, Rashelle Cohen, Uma N. Srivatsa, Randi J. Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

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, Yrigollen, Carolyn M, Raske, Chris, Loomis, Erick W, Tassone, Flora, Pretto, Dalyir I, Durbin-Johnson, Blythe, Hagerman, Paul J, Eid, John S   +8 more
core   +1 more source

Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers

Frontiers in Genetics, 2018
Approximately 30–40% of male and 8–16% of female carriers of the Fragile X premutation will develop a neurodegenerative movement disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, cognitive decline, and Parkinsonism during ...
Reem R. Al Olaby, Hiu-Tung Tang, Blythe Durbin-Johnson, Andrea Schneider, Andrea Schneider, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Flora Tassone, Flora Tassone   +10 more
doaj   +1 more source

Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression

Reproductive Biology and Endocrinology, 2022
Background The protein kinase B (AKT)/mammalian target of rapamycin (mTOR) signaling pathway regulates early follicular activation and follicular pool maintenance in female germline cells.
Julia Rehnitz, Birgitta Messmer, Ulrike Bender, Xuan Phuoc Nguyen, Ariane Germeyer, Katrin Hinderhofer, Thomas Strowitzki, Edison Capp   +7 more
doaj   +1 more source