Results 131 to 140 of about 19,944 (229)
Absence of BRCA/FMR1 correlations in women with ovarian cancers.
Previously reported findings in Austrian BRCA1/2 mutation carriers suggested a possible dependency of embryos with BRCA1/2 mutations on so-called low alleles of the fragile X mental retardation 1 (FMR1) gene, characterized by less than 26 CGG repeats ...
C Blake Gilks +15 more
core +1 more source
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 +12 more
doaj +1 more source
FMR1是引起X染色體脆折症的基因。X 染色體脆折症是由染色體Xq27.3位置的脆 折點而命名。FMR1篩選到以後,只需要去 測量基因CGG重覆片段的長度及基因的甲 基化,就可以診斷患者、帶原者,及產前 診斷。可是由於FMR1是直接靠它在染色體 上的位置而被選殖到的,所以直到現在它 的功能仍不清楚,X染色體脆折症也缺乏有 效的治療。 為了能瞭解FMR1的功能,我們首先研 究其基因的調控。我們以診斷X染色體脆折 症的經驗為基礎,首先分析了FMR1啟動子 的構造,並証明FMR1啟動子會被甲基化抑 制(Hwu
王作仁
core
Rin cooperates with FMR1 to suppress growth.
(A–C) Scanning electron micrographs of adult control (A), FMR1D113M (B) and rin2 (C) mutant eyes generated by eyFLP/FRT-mediated mitotic recombination. Scale bar represents 100 µm.
Hugo Stocker (2648) +2 more
core +1 more source
FMR1 Iso-Seq intermediate files: FLNC and nFL reads
<p>Over 40% of males and ~16% of female carriers of <em>FMR1</em> premutation allele (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder.
Tang, Hiu-Tung +9 more
core +1 more source
Capr cooperates with FMR1 and Rin to suppress growth.
(A–B) Scanning electron micrographs of adult control (A) and Capr2 (B) eyes generated by eyFLP/FRT Minute mediated mitotic recombination from flies reared on 25% yeast food (A–B). Scale bar represents 100 µm.
Hugo Stocker (2648) +2 more
core +1 more source
A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core
FMRP regulates neuronal RNA granules containing stalled ribosomes, not where ribosomes stall. [PDF]
Li JT +8 more
europepmc +1 more source

