Results 21 to 30 of about 2,751,167 (169)

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

FRA2A is a CGG repeat expansion associated with silencing of AFF3 [PDF]

, 2014
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID).
Douglas, Evelyn, Metsu Sofie, Reyniers Edwin, Liesbeth Rooms (555530), Chandra Sekhar Reddy Chilamakuri, Martin S. Taylor (257588), Rainger, J., Wilson, David I., Wilson, D., Gecz, J., David R Fitzpatrick, Taylor, Martin S; id_orcid, Kooy, R., David I. Wilson, Kooy, R. Frank, Harris Morrison, Geert Vandeweyer (555532), Thompson Geoffrey, Wilson David I., Evelyn Douglas, Kooy, R Frank, FitzPatrick, D., David R. FitzPatrick (215024), Chilamakuri Chandra Sekhar Reddy, Vandeweyer, Geert, Bengani Hemant, R Frank Kooy, FitzPatrick David R., Eric Haan, R. Frank Kooy, Gecz Jozef, Eric Haan (62063), Jozef Gecz (9483), Edwin Reyniers, Gecz, Jozef, Harris Morrison (34143), Geoffrey Thompson (555535), Thompson, Geoffrey, Vandeweyer, G., Reyniers, Edwin, Haan, E., Rooms Liesbeth, Rooms, Liesbeth, Fitzpatrick, David R, Metsu, Sofie, FitzPatrick, David R., Geert Vandeweyer, Morrison Harris, Jozef Gecz, Taylor Martin S., Taylor, Martin S., Jacqueline Rainger, R. Frank Kooy (555536), Chandra Sekhar Reddy Chilamakuri (523131), Martin S. Taylor, Metsu, S., Evelyn Douglas (555534), Hemant Bengani, Rainger Jacqueline, Bengani, Hemant, Liesbeth Rooms, David R. FitzPatrick, Hemant Bengani (425074), Sofie Metsu (555529), Morrison, Harris, Chilamakuri, C., Kooy R. Frank, Taylor, M., Reyniers, E., Rainger, Jacqueline, Bengani, H., Rooms, L., Thompson, G., Haan Eric, Wilson, David I, David I. Wilson (164352), Martin S Taylor, Haan, Eric, Chilamakuri, Chandra Sekhar Reddy, David I Wilson, Douglas, E., Jacqueline Rainger (555531), Vandeweyer Geert, Edwin Reyniers (555533), Geoffrey Thompson, Sofie Metsu, Douglas Evelyn, Morrison, H., et al.   +88 more
core   +1 more source

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +1 more source

In Silico Analysis of FMR1 Gene Missense SNPs [PDF]

, 2016
WOS: 000377830900004PubMed ID: 26880065The FMR1 gene, a member of the fragile X-related gene family, is responsible for fragile X syndrome (FXS). Missense single-nucleotide polymorphisms (SNPs) are responsible for many complex diseases.
Tekcan, Akin
core   +1 more source

STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]

, 2010
Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
core   +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-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

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

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.
Neri, G, Chiurazzi, P, Oostra, B A, Ng, J, Wolfson, S, de Graaff, E, Fisch, G S, Kozak, L, Verkerk, A J; id_orcid   +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