Results 31 to 40 of about 8,344 (152)

The role of AGG interruptions in the transcription of FMR1 premutation alleles.

PLoS ONE, 2011
Fragile X associated disorders are caused by a premutation allele in the fragile X mental retardation 1 gene (FMR1) and are hypothesized to result from the toxic effect of elevated levels of expanded FMR1 transcripts.
Carolyn M Yrigollen, Federica Tassone, Blythe Durbin-Johnson, Flora Tassone   +3 more
doaj   +1 more source

Additional file 1 of FMRpolyG accumulates in FMR1 premutation granulosa cells

, 2020
Additional file 1S. Mural granulosa cells of FMR1 premutation carriers exhibited FMRpolyG accumulation without ubiquitin inclusions. Two additional FMR1 premutation carriers demontrated FMRpolyG positive staining withoout co-localization with ubiquitin ...
H. Raanani (8498406), O. Dratviman-Storobinsky (8498400), R. Orvieto (8498409), M. Friedman-Gohas (8498394), S. Elizur (8498397), Y. Cohen (2254525), J. Haas (7015940), A. Aizer (8498403)   +7 more
core   +1 more source

Phenobarbital use and neurological problems in FMR1 premutation carriers [PDF]

, 2016
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats)
Girirajan, Santhosh, Isaza, Carolina, Teshima, Laura Yuriko González, Hagerman, Randi, Saldarriaga, Wilmar, Lein, Pamela, Silva, Marisol, Rosa, Lina, Polyak, Andrew, Tassone, Flora   +9 more
core   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core   +1 more source

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

FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome [PDF]

, 2017
This is a report of FMR1 premutation with Prader-Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation.
Mirna Lechpammer, Jeanelle Ariza, Hagerman, Paul, Hagerman, Randi, Martínez‐Cerdeño, Verónica, Randi Hagerman, Noctor, Stephen, Paul Hagerman, Lechpammer, Mirna, Ariza, Jeanelle, Verónica Martínez-Cerdeño, Stephen Noctor   +11 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

Association between the FMR1 CGG repeat lengths and the severity of idiopathic primary ovarian insufficiency: a meta analysis

Artificial Cells, Nanomedicine, and Biotechnology, 2019
Aim Reports on the association of the CGG repeat length in the FMR1 gene with the severity of idiopathic POI are inconclusive. Therefore, a meta analysis was performed to investigate the relationship between the expansion of repeat CGG and idiopathic POI
Jing Huang, Wenxiang Zhang, Yingchun Liu, Ying Liu, Jing Wang, Hong Jiang   +5 more
doaj   +1 more source

Executive Function and Working Memory Deficits in Females with Fragile X Premutation

Life, 2023
The Fragile X premutation is a genetic instability of the FMR1 gene caused by 55–199 recurrences of the CGG sequence, whereas there are only 7–54 repeats of the CGG sequence in the normal condition.
Osnat Segal, Tamar Kowal, Yonit Banet-Levi, Lidia V. Gabis   +3 more
doaj   +1 more source