Keywords: ALS; amyotrophic lateral sclerosis; ASD; autism spectrum disorder; BD; bipolar disorder; CAS; CRISPR-associated proteins; CRISPR; clustered regularly interspaced short palindromic repeats; ESC; embryonic stem cell; FXS; fragile X syndrome; FMR1; fragile X
مقالات ISI (ترجمه نشده)
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Keywords: ASD; autism spectrum disorders; BTBR; BTBR T+Itpr3tf/J mouse strain; cKO; conditional knockout; CNS; central nervous system; CNTNAP2; contactin-associated protein-like 2; DREADD; designer receptors exclusively activated by designer drugs; DSM-5; Diagnosti
Keywords: ASDs; Autism spectrum disorders; CNV; copy number variant; eIPSC; evoked IPSC; FMRP; fragile X mental retardation protein; FXS; fragile X syndrome; LOH; loss of heterozygosity; LTD; long-term depression; LTP; long-term potentiation; mEPSCs; miniature exci
Keywords: Fragile X; FMRP; Fmr1; Hippocampus; Dentate gyrus; Synaptic plasticity; LTP; NMDA; Stress
Keywords: Premature ovarian failure; BMP15; ESR1; FMR1; FSHR; INHA;
Keywords: CNS; central nervous system; CreERT2; inducible Cre; CSF; cerebral spinal fluid; EEG; electroencephalography; 4E-BP1; eIF4E-binding protein 1; E; embryonic day; fl; floxed; FCDs; focal cortical dysplasias; FMR1; FMRP gene; FMRP; fragile X mental retardati
Keywords: ANOVA; analysis of variance; dfmr1; drosophila Fragile X Syndrome model; EDTA; ethylenediaminetetraacetic acid; EGTA; ethylene glycol tetraacetic acid; ELISA; enzyme-linked immunosorbent assay; FMR1; Fragile X mental retardation gene; Fmr1 KO; Fragile X m
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry
Keywords: Fragile X premutation; FMR1; Premature ovarian insufficiency;
Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome
Keywords: global developmental delay; genetics; FMR1; autism; ASD; Autism spectrum disorder; FXS; Fragile X syndrome;
Premutations of FMR1 CGG repeats are not related to idiopathic premature ovarian failure in Iranian patients: A case control study
Keywords: POF; premature ovarian failure; FMR1; fragile X mental retardation 1; dNTP; deoxyribonucleotide triphosphate; Premature ovarian failure (POF); Idiopathic POF; CGG repeat; FMR1; Biomarker;
Dysregulation and restoration of homeostatic network plasticity in fragile X syndrome mice
Keywords: Fmr1; FXS; p53; Mdm2; Neural network; Plasticity;
PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions
Keywords: Pura (Pur-alpha); Purb; Pur-beta; Purg; Pur-gamma-A and Pur-gamma-B; AIDS; Myelodysplastic syndrome; Acute myelogenous leukemia; AML; Progressive multifocal leukoencephalopathy; PML; Polyomavirus JC; JCV; Fragile X syndrome; FXS; FMR1; Amyotrophic lateral
Analysis of microRNA expression in the thymus of Myasthenia Gravis patients opens new research avenues
Keywords: AChR; acetylcholine receptor; DGCR8; DiGeorge syndrome Critical Region gene 8; FC; fold change; FMR1; fragile X mental retardation 1; IFN-I/β; type-I interferon/interferon β; IFNAR; interferon alpha and beta receptor subunit; MG; Myasthenia Gravis; miRN
Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome
Keywords: Microsatellite expansion; FXTAS; FMR1; RAN translation; RNA gelation;
Rescue of Fmr1KO phenotypes with mGluR5 inhibitors: MRZ-8456 versus AFQ-056
Keywords: mGluR5; Fmr1; MRZ-8456; AFQ-056; MPEP; Amyloid-beta precursor protein; Aβ; amyloid-beta; ABC-C; Aberrant Behavior Checklist-Community Edition; AGS; audiogenic-induced seizures; APP; amyloid-beta protein precursor; CNS; central nervous system; CTEP; 2-chl
Long term verbal memory recall deficits in fragile X premutation females
Keywords: FMR1; Executive function; Verbal memory; CVLT;
Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study)
Keywords: Diminished ovarian reserve; FMR1; race/ethnicity; European Continental Ancestry Group; Asian Continental Ancestry Group; ovarian reserve; infertility; female;
Membrane-bound organelles versus membrane-less compartments and their control of anabolic pathways in Drosophila
Keywords: Cell compartmentalization; Membrane-bound organelles; Membrane-less compartments; Liquid droplets; Liquid-liquid phase separation; Low complexity sequence; Secretory pathway; ER exit sites; gurken translation; Drosophila; Oocyte; Orb; S2 cells; COPII; Sec
Archival ReportAstrocytic Contributions to Synaptic and Learning Abnormalities in a Mouse Model of Fragile X Syndrome
Keywords: Astrocytes; Dendritic spines; Fragile X syndrome; Fmr1; Motor cortex; Motor learning;
FMR1 and AKT/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells
Keywords: AKT/mTOR; FMR1; Follicle-stimulating hormone; Folliculogenesis; Granulosa cell;
Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation
Keywords: Fragile X; FXTAS; Fragile X premutation; FMR1; MRI; Neurodegenerative disorder;
Full length articlePhenobarbital use and neurological problems in FMR1 premutation carriers
Keywords: Premutation; Fragile X; FMR1; Neurotoxicity; Phenobarbital; Pesticides;
FMR1 gene CGG repeat variation within the normal range is not predictive of ovarian response in IVF cycles
Keywords: CGG repeats; FMR1; oocyte yield; preimplantation genetic screening;
Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review
Keywords: Fragile X Syndrome; FMR1; FMRP; Autism; Hypothalamic-pituitary-adrenal axis; Cortisol; Corticosterone; Glucocorticoid; Systematic review; KO mouse; HPA;
Is FMR1 CGG repeat length a predictor of in vitro fertilization stimulation response or outcome?
Keywords: ART; CGG repeats; FMR1; IVF; ovarian reserve;
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing
Keywords: Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Human pluripotent stem cell models of Fragile X syndrome
Keywords: Pluripotent stem cells; Human; Fragile X syndrome; Epigenetics; FMRP; FMR1; Autism; Neural development;
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts dire
Keywords: Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Validation of a robust PCR-based assay for quantifying fragile X CGG repeats
Keywords: Fragile X; PCR; FMR1; Full mutation; Trinucleotide repeats; Capillary electrophoresis;
Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome
Keywords: AMPAR; α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor; ASD; autism spectrum disorder; BrdU; 5-bromo-2â²-deoxyuridine; CA; cornu ammonis; CaMKII; calcium/calmodulin-dependent protein kinase II; CGG; cytosine-guanine-guanine; DG; dentate gy
Genetic analysis of FMR1 repeat expansion in essential tremor
Keywords: Essential tremor; FMR1; Fragile X; Gray zone alleles; Premutation alleles; Genetics
Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles
Keywords: AMH; anti-Müllerian hormone; ART; assisted reproductive technology; BMI; body mass index; FMR1; fragile X mental retardation 1; FOR; functional ovarian reserve; FSH; follicle stimulating hormone; FXPOI; fragile X primary ovarian insufficiency; GEE; gener
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome
Keywords: FXTAS; Iron; Fragile X; Neurodegeneration; FMR1; Autism; Premutation; CGG repeat; Choroid plexus
Abnormal neuronal morphology and neurochemistry in the auditory brainstem of Fmr1 knockout rats
Keywords: ABR; auditory brainstem response; CI; confidence interval; CR; Calretinin; Fmr1; Fragile X mental retardation 1 gene; FMRP; Fragile X mental retardation protein; FXS; Fragile X syndrome; GABA; gamma-aminobutyric acid; GAD; glutamic acid decarboxylase; GBC
Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome
Keywords: FMR1; Fragile X Mental Retardation-1; FXPOI; Fragile X-associated primary ovarian insufficiency; FXS; Fragile X syndrome; FXTAS; Fragile X-associated tremor ataxia syndrome;
Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening
Keywords: Fragile X syndrome; FMR1; Missense mutation; Mental retardation; High resolution melting (HRM) analysis
Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure
Keywords: AGG interruption; CGG repeat; FMR1; intermediate; premature ovarian failure
Channelopathies and dendritic dysfunction in fragile X syndrome
Keywords: Voltage-gated ion channels; Dendrites; Integration; Fmr1; FMRP
Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements
Keywords: Saccade; Eye tracking; Premutation carrier; Fragile X syndrome; FXS; FMR1; Response inhibition
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome
Keywords: FMR1; FMRP; Premutation; Fragile X tremor/ataxia syndrome; FXTAS; Glu transporters; EAAT1; EAAT2; mGluR5;
Anxiety, hyperactivity and stereotypy in a zebrafish model of fragile X syndrome and autism spectrum disorder
Keywords: ASD; autism spectrum disorder; fmr1; fragile X mental retardation; fps; frames per second; FXS; fragile X syndrome; IACUC; institutional animal care and use committee; KO; knockout; LTD; long-term depression; LTP; long-term potentiation; PCR; polymerase c
Fragile X gene expansions are not associated with dementia
Keywords: FMR1; Fragile X; Alzheimer's disease;
Translational endpoints in fragile X syndrome
Keywords: Fragile X syndrome; FMR1; Fmr1 KO mouse; Therapy; Outcome measures;
GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model
Keywords: 2iL; 2nd instar larval; AEL; after egg lay; ANOVA; analysis of variance; APL; anterior paired lateral; BSA; bovine serum albumin; ChAT; choline acetyltransferase; CSÂ +; conditioned stimulus; CSÂ â; control stimulus; dBrainbow; Drosophila Brainbow; dfmr
Short CommunicationMosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event
Keywords: 5â²UTR; 5â² unstranslated region; Array-CGH; array-Comparative Genomic Hybridization; FMR1; Fragile X Mental Retardation 1 gene; FMRP; Fragile X Mental Retardation Protein; IQ; Intelligence Quotient; PCR; Polymerase Chain Reaction; STR; Short Tandem Rep
MicroRNA-130b targets Fmr1 and regulates embryonic neural progenitor cell proliferation and differentiation
Keywords: Fmr1; miR-130b; Proliferation; Differentiation; Neural progenitor cells;
Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles
Keywords: FMR1; Diffusion tensor imaging; Working memory; Cognition; White matter; Tractography;
Identification of a patient with intellectual disability and de novo 3.7Â Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
Keywords: Mb; megabase; SNP; single nucleotide polymorphism; ID; intellectual disability; HC; head circumference; SD; standard deviation; MRI; magnetic resonance imaging; FMR1; fragile X mental retardation 1; PCR; polymerase chain reaction; FISH; fluorescence in si
Association of BRCA1/2 mutations with FMR1 genotypes: Effects on menarcheal and menopausal age
Keywords: BRCA; FMR1; Menarche; Menopause
Clinical characteristics and genetic analysis in women with premature ovarian insufficiency
Keywords: Premature ovarian insufficiency; FMR1; GDF-9; BMP-15; Genetic analysis