Results 101 to 110 of about 3,423 (189)

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

, 2019
Background: Individuals with premutation alleles of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative condition affecting sensorimotor function.
McKinney, Walker S., Khemani, Pravin, White, Stormi P., Wang, Zheng, McKinney, Walker S, Kelly, Shannon, Lui, Su, White, Stormi P, Mosconi, Matthew W, Mosconi, Matthew W.   +9 more
core   +1 more source

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

Molecular Autism, 2010
Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP).
Hagerman Randi, Hoem Gry, Hagerman Paul
doaj   +1 more source

Warburg effect linked to cognitive‐executive deficits in FMR1 premutation

, 2016
A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carriers are affected by the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian ...
Napoli, Eleonora, Azarang, Atoosa, Giulivi, Cecilia, Song, Gyu, Schneider, Andrea, Hagerman, Randi, Al Azaim Eldeeb, Marwa Abd, Tassone, Flora   +7 more
core   +1 more source

FMRP Associates with Cytoplasmic Granules at the Onset of Meiosis in the Human Oocyte.

PLoS ONE, 2016
Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women.
Roseanne Rosario, Panagiotis Filis, Victoria Tessyman, Hazel Kinnell, Andrew J Childs, Nicola K Gray, Richard A Anderson   +6 more
doaj   +1 more source

Age-related functional brain changes in FMR1 premutation carriers [PDF]

, 2018
The FMR1 premutation confers a 40–60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and ataxia,
Andrew C. Stanfield, Basu, Shinjini, Brown, Stephanie S.G., Sibley, Heather, Stanfield, Andrew C., Stephanie S.G. Brown, Peter C. Kind, Shinjini Basu, Kind, Peter C., Heather C. Whalley   +9 more
core   +1 more source

Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj  

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Frontiers in Genetics, 2018
The fragile X syndrome arises from the FMR1 CGG expansion of a premutation (55–200 repeats) to a full mutation allele (>200 repeats) and is the most frequent cause of inherited X-linked intellectual disability.
Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R. Vermeesch   +6 more
doaj   +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

Clinical and laboratory characteristics of the study (carriers of FMR1 premutation) and control groups.

, 2014
Clinical and laboratory characteristics of the study (carriers of FMR1 premutation) and control groups.
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