Results 41 to 50 of about 15,002 (209)

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-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

Molecular dissection of the events leading to inactivation of the FMR1 gene [PDF]

Human Molecular Genetics, 2004
The analysis of a lymphoblastoid cell line (5106), derived from a rare individual of normal intelligence with an unmethylated full mutation of the FMR1 gene, allowed us to reconstruct the chain of molecular events leading to the FMR1 inactivation and to fragile X syndrome.
Roberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, Ilaria Zito, Alessandra Terracciano, Umberto Moscato, Claudia Bagni, Ben Oostra, Pietro Chiurazzi, Giovanni Neri   +9 more
openaire   +3 more sources

Generation and characterization of FMR1 knockout zebrafish.

PLoS ONE, 2009
Fragile X syndrome (FXS) is one of the most common known causes of inherited mental retardation. The gene mutated in FXS is named FMR1, and is well conserved from human to Drosophila.
Marjo J den Broeder, Herma van der Linde, Judith R Brouwer, Ben A Oostra, Rob Willemsen, René F Ketting   +5 more
doaj   +1 more source

Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay [PDF]

The Journal of Molecular Diagnostics, 2000
The fragile X syndrome is the most commonly inherited cause of mental retardation. Genetic diagnosis of this disease relies on the detection of triplet repeat expansion in the FMR1 gene on the X chromosome. Although the majority of disease in fragile X patients is due to mutations involving triplet repeat expansion, deletion of various portions of FMR1
T M, Daly, A, Rafii, R A, Martin, B A, Zehnbauer   +3 more
openaire   +2 more sources

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome

, 1994
Most fragile X patients have a significant increase in the number of CGG repeats in the FMR1 gene. Two patients were described with a deletion and one patient with a point mutation in the FMR1 gene.
Ng, J.M.Y. (Jessica), Graaff, E. (Esther) de, Wolfson, D.J. (Dik), Neri, G. (Giovanni), Chiurazzi, P. (Pietro), Oostra, B.A. (Ben), Fisch, G.S. (Gene), Verkerk, A., Kozak, L. (L.)   +8 more
core   +2 more sources

Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

Neurobiology of Disease, 2009
The pre-mRNA of the fragile X mental retardation 1 gene (FMR1) is subject to exon skipping and alternative splice site selection, which can generate up to 12 isoforms. The expression and function of these variants in vivo has not yet been fully explored.
Wen Xie, Natalia Dolzhanskaya, Giuseppe LaFauci, Carl Dobkin, Robert B. Denman   +4 more
doaj   +1 more source

A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)

Journal of Neurodevelopmental Disorders, 2022
Background Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidiol therapy. Design CONNECT-FX was a double-blind, randomized phase 3 trial assessing efficacy and safety of ZYN002 ...
Elizabeth Berry-Kravis, Randi Hagerman, Dejan Budimirovic, Craig Erickson, Helen Heussler, Nicole Tartaglia, Jonathan Cohen, Flora Tassone, Thomas Dobbins, Elizabeth Merikle, Terri Sebree, Nancy Tich, Joseph M. Palumbo, Stephen O’Quinn   +13 more
doaj   +1 more source

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   +1 more source

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

PLoS ONE, 2010
BackgroundFragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus.
Stephen C Collins, Brad Coffee, Paul J Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E Zwick, David J Cutler, Stephen T Warren   +9 more
doaj   +1 more source