Results 21 to 30 of about 26,254 (239)

FMR1: A gene with three faces [PDF]

Biochimica et Biophysica Acta (BBA) - General Subjects, 2009
The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein.
Rob Willemsen, Ben A. Oostra
openaire   +4 more sources

Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels [PDF]

Journal of Neurodevelopmental Disorders, 2013
Abstract Background Fragile X syndrome is caused by the loss of FMRP expression due to methylation of the FMR1 promoter. Treatment of fragile X syndrome patients’ lymphoblastoid cells with 5-azadeoxycytidine results in demethylation of the promoter and reactivation of the gene.
Brendel, Cornelia, Mielke, Benjamin, Hillebrand, Merle, Gärtner, Jutta, Huppke, Peter   +4 more
openaire   +4 more sources

Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. [PDF]

, 2018
To uncover the circuit-level alterations that underlie atypical sensory processing associated with autism, we adopted a symptom-to-circuit approach in the Fmr1-knockout (Fmr1-/-) mouse model of Fragile X syndrome.
A Contractor, A Estes, A Mullard, Aditi Newadkar, Anubhuti Goel, B Zupan, Barbara Todisco, BN Armbruster, BV Atallah, C He, CA Runyan, Carlos Portera-Cailliau, CD Harvey, CE Robertson, CM Niell, Craig A. Erickson, CS Kogan, CS Kogan, CX He, Daniel A. Cantu, Diego de Alba, Ernest Pedapati, F Farzin, G Fata La, Gunvant R. Chaudhari, HA Zariwala, HK Kato, IS Knoth, J Akerboom, J Poort, Janna Guilfoyle, JC Cottam, JJ LeBlanc, JM Pakan, JP Hamm, JT Gonçalves, K Juczewski, K Plaisted, L Pinto, Lauren M. Schmitt, M Dipoppa, M Rifé, MT Arnett, Nazim Kourdougli, PJ Mineault, SB Hofer, SH Lee, SR Hooper, TA Pologruto, The Dutch-Belgian Fragile X Consortium., TW Chen, Y Gonchar, Y Zhang, ZV Guo   +53 more
core   +2 more sources

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis

Journal of Neuroinflammation, 2021
Predisposition to autoimmunity and inflammatory disorders is observed in patients with fragile X-associated syndromes. These patients have increased numbers of CGG triplets in the 5’ UTR region of FMR1 (Fragile X Mental Retardation 1) gene, that affects ...
Scott Thomas, Odessa-Maud Fayet, Frédérique Truffault, Elie Fadel, Bastien Provost, Abderaouf Hamza, Sonia Berrih-Aknin, Jean-Paul Bonnefont, Rozen Le Panse   +8 more
doaj   +1 more source

Associated features in females with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions
Elizabeth Berry-Kravis, Molly Losh, John M Olichney, Scott M. Summers, Laia Rodriguez-Revenga, Anne Wheeler, Anne Wheeler, Jan S. Greenberg, Stephanie L. Sherman, Marsha R. Mailick, Randi J Hagerman, Jin Chen Yang, Donald B. Bailey, Montserrat Milà, Leann E. Smith   +14 more
openaire   +5 more sources

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

PLoS ONE, 2010
Fragile 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. Even though the repeat expansion mutation is a
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

The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes. [PDF]

Glia
Main Points Loss of FMRP impairs human and rat oligodendrocyte (OL) morphology in vitro. FMRP‐deficient OLs show impaired maturation when engrafted in hypomyelinated mice. Rat Fmr1 knockout OLs show a delay in myelin sheath formation in vivo. ABSTRACT The Fragile X Messenger Ribonucleoprotein (FMRP) is an RNA binding protein that regulates the ...
Ramesh V, Tsoukala E, Kougianou I, Kozic Z, Burr K, Viswanath B, Hampton D, Story D, Reddy BK, Pal R, Dando O, Kind PC, Chattarji S, Selvaraj BT, Chandran S, Zoupi L.   +15 more
europepmc   +2 more sources

Clinical and molecular correlates in fragile X premutation females. [PDF]

, 2017
The prevalence of the fragile X premutation (55-200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
AlOlaby, Reem R, Chutabhakdikul, Nuanchan, Durbin-Johnson, Blythe, Espinal, Glenda M, Hagerman, Paul J, Hagerman, Randi J, Hessl, David, Jiraanont, Poonnada, Rivera, Susan M, Schneider, Andrea, Silva, Marisol, Sweha, Stefan R, Tang, Hiu-Tung, Tassone, Flora   +13 more
core   +2 more sources

Developmental profiles of infants with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2016
Abstract Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known.
Wheeler, Anne C, Sideris, John, Hagerman, Randi, Berry-Kravis, Elizabeth, Tassone, Flora, Bailey, Donald B   +5 more
openaire   +5 more sources

FMR1 promotes the progression of colorectal cancer cell by stabilizing EGFR mRNA in an m6A-dependent manner

Cell Death and Disease, 2022
FMR1, a new m6A reader, is known to be involved in the regulation of cancer progression. However, its role, regulatory mechanism, and clinical significance in colorectal cancer (CRC) are elusive.
Yuhan Hu, Qingzu Gao, Shuai Ma, Pei Yu, Shuang Ding, Xiaofei Yao, Zheying Zhang, Shuya Lu, Manman Lu, Jinghang Zhang, Yanling Wang, Xinlai Qian, Jiateng Zhong   +12 more
doaj   +1 more source