Results 111 to 120 of about 18,012 (216)

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

Cell Reports
Summary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois, Yu Guo, Meng Li, Natalie E. Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M.M. Sousa, Anita Bhattacharyya, Xinyu Zhao   +11 more
doaj   +1 more source

A nonsense mutation in FMR1 causing fragile X syndrome

, 2010
Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1.
Brøndum-Nielsen, Karen, Dedic, Alma, Grønskov, Karen, Alma Dedic, Hjalgrim, Helle, Karen Grønskov, Helle Hjalgrim, Gronskov, Karen, Karen Brøndum-Nielsen   +8 more
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Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice

Molecular Autism
Background Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects.
Mehdi Hooshmandi, David Ho-Tieng, Kevin C. Lister, Weihua Cai, Calvin Wong, Nicole Brown, Jonathan Fan, Volodya Hovhannisyan, Sonali Uttam, Masha Prager-Khoutorsky, Nahum Sonenberg, Christos G. Gkogkas, Arkady Khoutorsky   +12 more
doaj   +1 more source

Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis

, 1997
SummaryFragile X syndrome is associated with silencing of the FMR1 gene. We studied the transcriptional regulation, by analysis of the FMR1 promoter region for the presence of in vivo protein/DNA interactions and for cyto-sine methylation at the single ...
Wohrle, D, Wohrle, Doris, Just, Walter, Oostra, Ben A., Kennerknecht, I, Just, W, Steinbach, Peter, Vogel, Walther, Schwemmle, S, Deissler, H, Deissler, Heidrun, Graaff, Esther, Dorfler, Walter, Vogel, W, Schwemmle, Sabine, Dorfler, W, Kennerknecht, Ingo, De Graaff, Esther, Gläser, Dieter, Glaser, D, Oostra, Ben, Steinbach, P   +21 more
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Destabilization of LTP in Fmr1 KO mice.

, 2014
A. Average synaptic potentiation shown in different time windows (15, 30 and 60 min). B. Decay slope in four groups (WT early, WT late, KO early and KO late).
Jae-Sung Park (533618), Sungchil Yang (613899), Sunggu Yang (322155), Shaowen Bao (260952), Alfredo Kirkwood (538165)   +4 more
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Characterization of FMR1 proteins isolated from different tissues

, 1995
: FMR1 protein expression was studied in different tissues, In human, monkey and murine tissues, high molecular mass FMR1 proteins (67-80 kDa) are found, as shown in lymphoblastoid cell lines. The identity of these proteins was confirmed by their absence
Galjaard, Hans, Willems, Patrick J., Hoogeveen, Andr\ue9 T., Oostra, Ben A., Meijer, Nicolle, Willemsen, Rob, Bakker, Cathy E., de Graaff, Esther, Verheij, Coleta, Reuser, Arnold J.J.   +9 more
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Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations

, 2002
The Fragile X mental retardation ′gene (FMR1) contains a polymorphic trinucleotide CGG repeat in the 5 untranslated region (UTR) of the FMR1 messenger.
Amaldi, F., Tassone, F., Bagni, C, Primerano, B., Hagerman, P, Hagerman, RJ, PAUL HAGERMAN, AMALDI, FRANCESCO, CLAUDIA BAGNI, FLORA TASSONE, Amaldi, F, Hagerman, P., FRANCESCO AMALDI, RANDI J. HAGERMAN, Tassone, F, BEATRICE PRIMERANO, Hagerman, R.J., Bagni, Claudia, Primerano, B   +18 more
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The FMR1 Gene, Infertility and Reproductive Decision-Making: A Review

, 2014
The strongest association between FMR1 and the ovary in humans is the increased risk of premature ovarian failure in women who carry the premutation level of CGG repeats (55-199 CGGs).
Joshua eJohnson, Lisa M Pastore
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FMR1 Gene [PDF]

, 2020
openaire   +1 more source

FMR1啟動子轉殖魚之研究

, 2006
X 染色體脆折症是引起遺傳性智能不足的 主要原因之一，在X 染色體脆折症患者， FMR1 基因內的CGG 重覆序列長度會增加， 並引起基因的甲基化。FMR1 基因的篩選雖 然解釋了X 染色體脆折症特殊的遺傳模 式，但是FMR1 的功能至今仍不清楚。 在我們過去的研究中，我們證實甲基 化是FMR1 基因表現抑制的直接原因 。我們進一步 分析FMR1 啟動子的構造，並發現FMR1 啟 動子中有一段序列(MSE)可以被cAMP 活化 。 然而過去我們想看細胞株內部FMR1表現變 ...
楊千立
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