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https://www.readbyqxmd.com/read/29339535/functional-changes-of-ampa-responses-in-human-induced-pluripotent-stem-cell-derived-neural-progenitors-in-fragile-x-syndrome
#1
Venkat Swaroop Achuta, Tommi Möykkynen, Ulla-Kaisa Peteri, Giorgio Turconi, Claudio Rivera, Kari Keinänen, Maija L Castrén
Altered neuronal network formation and function involving dysregulated excitatory and inhibitory circuits are associated with fragile X syndrome (FXS). We examined functional maturation of the excitatory transmission system in FXS by investigating the response of FXS patient-derived neural progenitor cells to the glutamate analog (AMPA). Neural progenitors derived from induced pluripotent stem cell (iPSC) lines generated from boys with FXS had augmented intracellular Ca2+ responses to AMPA and kainate that were mediated by Ca2+-permeable AMPA receptors (CP-AMPARs) lacking the GluA2 subunit...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29336496/donepezil-reverses-dendritic-spine-morphology-adaptations-and-fmr1-epigenetic-modifications-in-hippocampus-of-adult-rats-after-adolescent-alcohol-exposure
#2
Patrick J Mulholland, Tara L Teppen, Kelsey M Miller, Hannah G Sexton, Subhash C Pandey, H Scott Swartzwelder
BACKGROUND: Adolescent intermittent ethanol (AIE) exposure produces persistent impairments in cholinergic and epigenetic signaling and alters markers of synapses in the hippocampal formation, effects that are thought to drive hippocampal dysfunction in adult rodents. Donepezil (Aricept), a cholinesterase inhibitor, is used clinically to ameliorate memory-related cognitive deficits. Given that donepezil also prevents morphological impairment in preclinical models of neuropsychiatric disorders, we investigated the ability of donepezil to reverse morphological and epigenetic adaptations in the hippocampus of adult rats exposed to AIE...
January 16, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29330421/premature-recruitment-of-oocyte-pool-and-increased-mtor-activity-in-fmr1-knockout-mice-and-reversal-of-phenotype-with-rapamycin
#3
E Mok-Lin, M Ascano, A Serganov, Z Rosenwaks, T Tuschl, Z Williams
While mutations in the fragile X mental retardation-1 (FMR1) gene are associated with varying reproductive outcomes in females, the effects of a complete lack of FMR1 expression are not known. Here, we studied the ovarian and reproductive phenotypes in an Fmr1 knockout (KO) mouse model and the role of mammalian target of rapamycin (mTOR) signaling. Breeding, histologic and mTOR signaling data were obtained at multiple time points in KO and wild type (WT) mice fed a control or rapamycin (mTOR inhibitor) diet...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#4
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29317220/acamprosate-rescues-neuronal-defects-in-the-drosophila-model-of-fragile-x-syndrome
#5
Russell L Hutson, Rachel L Thompson, Andrew P Bantel, Charles R Tessier
AIMS: Several off-label studies have shown that acamprosate can provide some clinical benefits in youth with Fragile X Syndrome (FXS), an autism spectrum disorder caused by loss of function of the highly conserved FMR1 gene. This study investigated the ability of acamprosate to rescue cellular, molecular and behavioral defects in the Drosophila model of FXS. MAIN METHODS: A high (100μM) and low (10μM) dose of acamprosate was fed to Drosophila FXS (dfmr1 null) or genetic control (w1118) larvae and then analyzed in multiple paradigms...
January 6, 2018: Life Sciences
https://www.readbyqxmd.com/read/29316893/frequency-of-sca8-sca10-sca12-sca36-fxtas-and-c9orf72-repeat-expansions-in-sca-patients-negative-for-the-most-common-sca-subtypes
#6
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T Epplen, Larissa Arning
BACKGROUND: Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72 gene. When no mutation has been identified in the aforementioned genes next-generation sequencing (NGS)-based diagnostics may also be applied. In order to define an optimal diagnostic strategy, more information about the frequency and phenotypic characteristics of rare repeat expansion disorders associated with ataxia should be at hand...
January 9, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29308622/epigenetic-aberration-of-fmr1-gene-in-infertile-women-with-diminished-ovarian-reserve
#7
Hossein Eslami, Ali Eslami, Raha Favaedi, Ummolbanin Asadpour, Shabnam Zari Moradi, Poopak Eftekhari-Yazdi, Tahereh Madani, Maryam Shahhoseini, Anahita Mohseni Meybodi
OBJECTIVES: The diminished ovarian reserve (DOR) is a condition characterized by a reduction in the number and/or quality of oocytes. This primary infertility disorder is usually accompanied with an increase in the follicle-stimulating hormone (FSH) levels and regular menses. Although there are many factors contributing to the DOR situation, it is likely that many of idiopathic cases have genetic/epigenetic bases. The association between the FMR1 premutation (50-200 CGG repeats) and the premature ovarian failure (POF) suggests that epigenetic disorders of FMR1 can act as a risk factor for the DOR as well...
April 2018: Cell Journal
https://www.readbyqxmd.com/read/29299012/tremor-ataxia-syndrome-and-primary-ovarian-insufficiency-in-an-fmr1-premutation-carrier
#8
Wilmar Saldarriaga-Gil, Tatiana Rodriguez-Guerrero, Andres Fandiño-Losada, Julian Ramirez-Cheyne
Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome. Case description: The patient was a 53-year-old female farmer with severe tremor in the upper limbs at rest that worsens with movement, tremor in the jaw and tongue, and generalized cerebral atrophy...
September 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/29291238/developmental-emergence-of-phenotypes-in-the-auditory-brainstem-nuclei-of-fmr1-knockout-mice
#9
Sarah E Rotschafer, Karina S Cramer
Fragile X syndrome (FXS), the most common monogenic cause of autism, is often associated with hypersensitivity to sound. Several studies have shown abnormalities in the auditory brainstem in FXS; however, the emergence of these auditory phenotypes during development has not been described. Here, we investigated the development of phenotypes in FXS model [Fmr1 knockout (KO)] mice in the ventral cochlear nucleus (VCN), medial nucleus of the trapezoid body (MNTB), and lateral superior olive (LSO). We studied features of the brainstem known to be altered in FXS or Fmr1 KO mice, including cell size and expression of markers for excitatory (VGLUT) and inhibitory (VGAT) synapses...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29289969/health-problems-in-females-carriers-of-premutation-in-the-fmr1-gene
#10
REVIEW
Małgorzata Zofia Lisik
Premutation in the FMR1 gene occur in the general population with an estimated prevalence 1 in 130-260 females and 1 in 250-810 males. Carriers of premutation are at risk of development of spectrum of neurological, psychiatric and immunological disorders in adulthood. Fragile X-associated disease caused by dynamic mutation (expansion of CGG repeats) can be divided into three disorders: FXS - Fragile X syndrome, FXPOI - Fragile X-associated primary ovarian insufficiency, FXTAS -Fragile X-associated tremor/ataxia syndrome, which can be present in few generations of one family...
October 29, 2017: Psychiatria Polska
https://www.readbyqxmd.com/read/29275276/fragile-x-associated-premature-ovarian-failure-in-a-large-turkish-cohort-findings-of-hacettepe-fragile-x-registry
#11
Gülen Eda Utine, Pelin Özlem Şimşek-Kiper, Özlem Akgün-Doğan, Gizem Ürel-Demir, Yasemin Alanay, Dilek Aktaş, Koray Boduroğlu, Ergül Tunçbilek, Mehmet Alikaşifoğlu
OBJECTIVE: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation carriers. STUDY DESIGN: FMR1 premutation is the single most common genetic cause of POI (FXPOI). Fragile X Registry at Hacettepe University has been reviewed for the frequency of FXPOI among female premutation carriers. Since 1991 when FMR1 testing was available, 760 individuals from 243 families have been registered. Actual data on menstrual status of female premutation carriers were gathered and analysed...
December 16, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29274095/alterations-in-ca1-hippocampal-synapses-in-a-mouse-model-of-fragile-x-syndrome
#12
Safdar Jawaid, Grahame J Kidd, Jing Wang, Carrie Swetlik, Ranjan Dutta, Bruce D Trapp
Fragile X Syndrome (FXS) is the major cause of inherited mental retardation and the leading genetic cause of Autism spectrum disorders. FXS is caused by mutations in the Fragile X Mental Retardation 1 (Fmr1) gene, which results in transcriptional silencing of Fragile X Mental Retardation Protein (FMRP). To elucidate cellular mechanisms involved in the pathogenesis of FXS, we compared dendritic spines in the hippocampal CA1 region of adult wild-type (WT) and Fmr1 knockout (Fmr1-KO) mice. Using diolistic labeling, confocal microscopy, and three-dimensional electron microscopy, we show a significant increase in the diameter of secondary dendrites, an increase in dendritic spine density, and a decrease in mature dendritic spines in adult Fmr1-KO mice...
December 23, 2017: Glia
https://www.readbyqxmd.com/read/29259781/fragile-x-syndrome-and-fragile-x-associated-disorders
#13
REVIEW
Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems...
2017: F1000Research
https://www.readbyqxmd.com/read/29223504/potential-pathogenic-mechanisms-underlying-fragile-x-tremor-ataxia-syndrome-ran-translation-and-or-rna-gain-of-function
#14
REVIEW
Manon Boivin, Rob Willemsen, Renate K Hukema, Chantal Sellier
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are progressive intention tremor and gait ataxia associated with brain atrophy, neuronal cell loss and presence of ubiquitin-positive intranuclear inclusions in both neurons and astrocytes. At the molecular level, FXTAS is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29218006/reduced-levels-of-the-synaptic-functional-regulator-fmrp-in-dentate-gyrus-of-the-aging-sprague-dawley-rat
#15
Roman Smidak, Fernando J Sialana, Martina Kristofova, Tamara Stojanovic, Dragana Rajcic, Jovana Malikovic, Daniel D Feyissa, Volker Korz, Harald Hoeger, Judit Wackerlig, Diana Mechtcheriakova, Gert Lubec
Fragile X mental retardation protein (FMRP) encoded by Fragile X mental retardation 1 (FMR1) gene is a RNA-binding regulator of mRNA translation, transport and stability with multiple targets responsible for proper synaptic function. Epigenetic silencing of FMR1 gene expression leads to the development of Fragile X syndrome (FXS) that is characterized by intellectual disability and other behavioral problems including autism. In the rat FXS model, the lack of FMRP caused a deficit in hippocampal-dependent memory...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29217836/drug-development-for-neurodevelopmental-disorders-lessons-learned-from-fragile-x-syndrome
#16
REVIEW
Elizabeth M Berry-Kravis, Lothar Lindemann, Aia E Jønch, George Apostol, Mark F Bear, Randall L Carpenter, Jacqueline N Crawley, Aurore Curie, Vincent Des Portes, Farah Hossain, Fabrizio Gasparini, Baltazar Gomez-Mancilla, David Hessl, Eva Loth, Sebastian H Scharf, Paul P Wang, Florian Von Raison, Randi Hagerman, Will Spooren, Sébastien Jacquemont
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal gene, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches...
December 8, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29209628/inhibitors-of-histone-deacetylases-are-weak-activators-of-the-fmr1-gene-in-fragile-x-syndrome-cell-lines
#17
Alexander A Dolskiy, Vladimir O Pustylnyak, Andrey A Yarushkin, Natalya A Lemskaya, Dmitry V Yudkin
Fragile X syndrome is the most common cause of inherited intellectual disability in humans. It is a result of CGG repeat expansion in the 5' untranslated region (5' UTR) of the FMR1 gene. This gene encodes the FMRP protein that is involved in neuronal development. Repeat expansion leads to heterochromatinization of the promoter, gene silencing, and the subsequent absence of FMRP. To date, there is no specific therapy for the syndrome. All treatments in clinic practice provide symptomatic therapy. The development of drug therapy for Fragile X syndrome treatment is connected with the search for inhibitors of enzymes that are responsible for heterochromatinization...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29201556/ns-pten-knockout-mice-show-sex-and-age-specific-differences-in-ultrasonic-vocalizations
#18
Matthew S Binder, Joaquin N Lugo
Objective: The goal of this study was to identify changes in quantitative and qualitative aspects of neonatal ultrasonic vocalizations USVs in neuron-subset specific (NS-Pten) knockout males and females when compared with wild-type male and female mice. Background: One signaling cascade that plays a crucial role in the development of an autistic-like phenotype is the PI3K/Akt/mTOR pathway. Mouse models that illustrate this connection include Fmr1, Tsc1, and NS-Pten-deficient mice...
November 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29188551/molecular-characterization-of-fmr1-gene-by-tp-pcr-in-women-of-reproductive-age-and-women-with-premature-ovarian-insufficiency
#19
Deepika Delsa Dean, Sarita Agarwal, Deepa Kapoor, Kuldeep Singh, Chandra Vati
BACKGROUND: Fragile X syndrome is caused by CGG repeat expansion mutation in the FMR1 gene. Normal alleles have 5-44 CGG repeats with AGG interruptions. The expanded gray zone (GZ) (45-54 repeats) and premutation (PM) (55-200 repeats) alleles are often uninterrupted and are unstably inherited in subsequent generations. The prevalence of PM and GZ carriers is high in the female population, at 1/66 and 1/113, respectively, and PM is associated with fertility problems in 20% of cases. OBJECTIVE: Our objective was to molecularly characterize CGG repeats and AGG interruption sequences in the FMR1 gene in women of reproductive age and in women with premature ovarian insufficiency (POI)...
November 29, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29178241/rare-fmr1-gene-mutations-causing-fragile-x-syndrome-a-review
#20
Adam F Sitzmann, Robert T Hagelstrom, Flora Tassone, Randi J Hagerman, Merlin G Butler
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, typically due to CGG-repeat expansions in the FMR1 gene leading to lack of expression. We identified a rare FMR1 gene mutation (c.413G>A), previously reported in a single patient and reviewed the literature for other rare FMR1 mutations. Our patient at 10 years of age presented with the classical findings of FXS including intellectual disability, autism, craniofacial findings, hyperextensibility, fleshy hands, flat feet, unsteady gait, and seizures but without the typical CGG-repeat expansion...
November 27, 2017: American Journal of Medical Genetics. Part A
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