Results 41 to 50 of about 14,262 (208)

Effect of AGG Interruptions on FMR1 Maternal Transmissions [PDF]

Frontiers in Molecular Biosciences, 2020
There are four classes of CGG repeat alleles in the FMR1 gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200 repeats; those between 55 and 200 CGGs are considered FMR1 premutation alleles, because they are associated with maternal expansions of the number of CGGs in the next generation and finally, alleles ...
Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Hiart Maortua, Hiart Maortua, Ana Belén de la Hoz, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada   +15 more
openaire   +4 more sources

Fmr1-Deficiency Impacts Body Composition, Skeleton, and Bone Microstructure in a Mouse Model of Fragile X Syndrome

Frontiers in Endocrinology, 2019
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability, hyperactivity, and autism. FXS is due to the silencing of the X-linked FMR1 gene.
Antoine Leboucher, Patricia Bermudez-Martin, Xavier Mouska, Ez-Zoubir Amri, Didier F. Pisani, Laetitia Davidovic   +5 more
doaj   +1 more source

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

The influence of sex, genotype, and dose on serum and hippocampal cytokine levels in juvenile mice developmentally exposed to a human-relevant mixture of polychlorinated biphenyls

Current Research in Toxicology, 2020
Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early life ...
Lauren Matelski, Kimberly P. Keil Stietz, Sunjay Sethi, Sandra L. Taylor, Judy Van de Water, Pamela J. Lein   +5 more
doaj  

FMRP regulates the subcellular distribution of cortical dendritic spine density in a non-cell-autonomous manner

Neurobiology of Disease, 2021
Fragile X syndrome (FXS) is the most common form of intellectual disability that arises from the dysfunction of a single gene—Fmr1. The main neuroanatomical correlate of FXS is elevated dendritic spine density on cortical pyramidal neurons, which has ...
Katherine M. Bland, Adam Aharon, Eden L. Widener, M. Irene Song, Zachary O. Casey, Yi Zuo, George S. Vidal   +6 more
doaj  

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

Stem Cell Reports, 2014
Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cells ...
Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen   +14 more
doaj   +1 more source

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Acta Médica Portuguesa, 2021
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic ...
Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas   +9 more
doaj   +1 more source

miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis

Non-coding RNA Research, 2021
FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP.
Alexander A. Dolskiy, Andrey A. Yarushkin, Irina V. Grishchenko, Natalya A. Lemskaya, Alexey V. Pindyurin, Lidiya V. Boldyreva, Vladimir O. Pustylnyak, Dmitry V. Yudkin   +7 more
doaj  

Fragile X Messenger Ribonucleoprotein 1 (FMR1), a novel inhibitor of osteoblast/osteocyte differentiation, regulates bone formation, mass, and strength in young and aged male and female mice

Bone Research, 2023
Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild
Padmini Deosthale, Julián Balanta-Melo, Amy Creecy, Chongshan Liu, Alejandro Marcial, Laura Morales, Julita Cridlin, Sylvia Robertson, Chiebuka Okpara, David J. Sanchez, Mahdi Ayoubi, Joaquín N. Lugo, Christopher J. Hernandez, Joseph M. Wallace, Lilian I. Plotkin   +14 more
doaj   +1 more source

m6A Modulates RAN Translation From CAG Repeat Expansion RNA

Aggregate, EarlyView.
We described a novel role of N6‐methyladenosine in promoting non‐canonical repeat‐associated non‐AUG translation from CAG repeat expansion RNA. ABSTRACT Nucleotide repeat expansions contribute to the development of a number of neurodegenerative diseases.
Yuxiang Sun, Zhouxian Li, Hui Dai, Yinsheng Wang   +3 more
wiley   +1 more source