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https://www.readbyqxmd.com/read/28931075/excitability-is-increased-in-hippocampal-ca1-pyramidal-cells-of-fmr1-knockout-mice
#1
M Angeles Luque, Pablo Beltran-Matas, M Carmen Marin, Blas Torres, Luis Herrero
Fragile X syndrome (FXS) is caused by a failure of neuronal cells to express the gene encoding the fragile mental retardation protein (FMRP). Clinical features of the syndrome include intellectual disability, learning impairment, hyperactivity, seizures and anxiety. Fmr1 knockout (KO) mice do not express FMRP and, as a result, reproduce some FXS behavioral abnormalities. While intrinsic and synaptic properties of excitatory cells in various part of the brain have been studied in Fmr1 KO mice, a thorough analysis of action potential characteristics and input-output function of CA1 pyramidal cells in this model is lacking...
2017: PloS One
https://www.readbyqxmd.com/read/28929824/size-and-methylation-mosaicism-in-males-with-fragile-x-syndrome
#2
Poonnada Jiraanont, Madhur Kumar, Hiu-Tung Tang, Glenda Espinal, Paul J Hagerman, Randi J Hagerman, Nuanchan Chutabhakdikul, Flora Tassone
OBJECTIVES: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous Time Resolved Fluorescence methodology respectively. RESULTS: DNA analysis showed atypical size- or methylation-mosaicism with both, full mutation and smaller (normal to premutation) alleles, as well as a combination of methylated and unmethylated alleles...
September 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28927589/molecular-dynamics-of-carrageenan-composites-reinforced-with-cloisite-na-montmorillonite-nanoclay
#3
M J Sanchis, M Carsí, M Culebras, C M Gómez, S Rodriguez, F G Torres
Nanocomposites comprising biodegradable carrageenan and glycerol (KCg) as the host polymer, with different contents of natural montmorillonite (MMT) as filler, were prepared by a solution casting process. Different techniques have been used to determine the interaction/behavior among the different components of the samples such as Fourier transform infrared spectroscopy (FTIR), X-ray diffraction (XRD), Transmission electron microscope (TEM) and, mainly, Dielectric relaxation spectroscopy (DRS). FTIR indicates hydrogen interaction between carrageenan matrix and silicate that is confirmed by the XRD data indicating some kind of carrageenan intercalation between the MMT layers...
November 15, 2017: Carbohydrate Polymers
https://www.readbyqxmd.com/read/28926113/skeletal-fragility-in-diabetes
#4
REVIEW
Mishaela R Rubin
Fracture risk is heightened in patients with both type 1 diabetes (T1D) and type 2 diabetes (T2D). Although bone mineral density by dual-energy X-ray absorptiometry is decreased in T1D, it is paradoxically increased with T2D. To predict fracture risk, the Fracture Risk Assessment Tool (FRAX) can be used in diabetes patients, albeit with refinement. Skeletal abnormalities in diabetes include alterations in microarchitecture in T1D and T2D as well as compromised impact microindentation in T2D. Changes in bone microvasculature, advanced glycation end product accumulation, and bone formation may underlie these findings...
August 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28923933/longitudinal-identification-of-clinically-distinct-neurophenotypes-in-young-children-with-fragile-x-syndrome
#5
Jennifer L Bruno, David Romano, Paul Mazaika, Amy A Lightbody, Heather Cody Hazlett, Joseph Piven, Allan L Reiss
Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability. The cognitive, behavioral, and neurological phenotypes observed in affected individuals can vary considerably, making it difficult to predict outcomes and determine the need for interventions. We sought to examine early structural brain growth as a potential marker for identification of clinically meaningful subgroups. Participants included 42 very young boys with FXS who completed a T1-weighted anatomical MRI and cognitive/behavioral assessment at two longitudinal time points, with mean ages of 2...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28923376/visuo-spatial-construction-trajectories-in-fragile-x-syndrome-fxs-and-autism-spectrum-disorders-asd-evidence-of-cognitive-heterogeneity-within-neurodevelopmental-conditions
#6
Carrie J Ballantyne, María Núñez, Kallia Manoussaki
BACKGROUND/AIMS: There have been discrepancies reported in visuo-spatial construction ability in children with Autism Spectrum Disorders (ASD), fragile X Syndrome (FXS) and those with a comorbid diagnosis of FXS and ASD (AFXS). This study aimed to provide a better understanding of the visuo-spatial processing styles in these heterogeneous neurodevelopmental disorders. METHODS AND PROCEDURE: Navon-type tasks were used to assess visuo-spatial construction ability across 5 groups of children: typically developing, FXS, AFXS, ASD children who scored low-moderate (HFA) and ASD children that scored severe (LFA) on the Childhood Autism Rating Scale (CARS)...
September 15, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28919851/deficient-sleep-in-mouse-models-of-fragile-x-syndrome
#7
R Michelle Saré, Lee Harkless, Merlin Levine, Anita Torossian, Carrie A Sheeler, Carolyn B Smith
In patients with fragile X syndrome (FXS), sleep problems are commonly observed but are not well characterized. In animal models of FXS (dfmr1 and Fmr1 knockout (KO)/Fxr2 heterozygote) circadian rhythmicity is affected, but sleep per se has not been examined. We used a home-cage monitoring system to assess total sleep time in both light and dark phases in Fmr1 KO mice at different developmental stages. Fmr1 KOs at P21 do not differ from controls, but genotype × phase interactions in both adult (P70 and P180) groups are statistically significant indicating that sleep in Fmr1 KOs is reduced selectively in the light phase compared to controls...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28916840/a-novel-col1a2-c-propeptide-cleavage-site-mutation-causing-high-bone-mass-osteogenesis-imperfecta-with-a-regional-distribution-pattern
#8
T Rolvien, U Kornak, J Stürznickel, T Schinke, M Amling, S Mundlos, R Oheim
Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2). We report two cases of a 56-year-old woman and her 80-year-old mother who suffered from multiple vertebral and non-vertebral fractures with onset in early childhood. A full osteologic assessment including dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses pointed to a high bone mineral density (BMD) in the hip (DXA Z-score + 3...
September 15, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28915148/adult-fmr1-knockout-mice-present-with-deficiencies-in-hippocampal-interleukin-6-and-tumor-necrosis-factor-%C3%AE-expression
#9
Samantha L Hodges, Suzanne O Nolan, Joseph H Taube, Joaquin N Lugo
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a single genetic mutation in the FMR1 gene. Mutations in the FMR1 gene are the largest monogenic cause of autism spectrum disorder (ASD), and thus both disorders share many of the same cognitive and behavioral impairments. There is increasing evidence suggesting that dysregulated immune responses play a role in the pathophysiology of ASD; however, the association between FXS and altered immunity requires further investigation. This study examined whether Fmr1 knockout (KO) and wild-type mice on a FVB/NJ background strain had altered cytokine expression at baseline levels in the hippocampus...
September 14, 2017: Neuroreport
https://www.readbyqxmd.com/read/28914265/fragile-x-testing-as-a-second-tier-test
#10
Taila Hartley, Ryan Potter, Lauren Badalato, Amanda C Smith, Olga Jarinova, Kym M Boycott
No abstract text is available yet for this article.
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#11
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28902714/altered-subcellular-localization-of-fragile-x-mental-retardation-signaling-partners-and-targets-in-superior-frontal-cortex-of-individuals-with-schizophrenia
#12
S Hossein Fatemi, Timothy D Folsom, Paul D Thuras
Schizophrenia is a severe, debilitating, neurodevelopmental disorder that affects 1% of the world's population. Recent findings from our laboratory have identified reduced levels of fragile X mental retardation protein (FMRP) and several downstream FMRP targets in superior frontal cortex of individuals with schizophrenia. We hypothesized that altered subcellular expression of FMRP and its signaling partners may explain these changes. In the current study we employed subcellular fractionation and western blotting to determine levels of FMRP, phosphorylated-FMRP as well as selected signaling partners [protein phosphatase 2A catalytic subunit (PP2AC), p70 S6 kinase (p70 S6K), and amyloid-β A4 precursor protein (APP)] in the total homogenate, nuclear, and rough endoplasmic reticulum fractions in superior frontal cortex of individuals with schizophrenia versus controls (N=12/group)...
September 11, 2017: Neuroreport
https://www.readbyqxmd.com/read/28900386/altered-developmental-expression-of-the-astrocyte-secreted-factors-hevin-and-sparc-in-the-fragile-x-mouse-model
#13
Jessica Wallingford, Angela L Scott, Kelly Rodrigues, Laurie C Doering
Astrocyte dysfunction has been indicated in many neurodevelopmental disorders, including Fragile X Syndrome (FXS). FXS is caused by a deficiency in fragile X mental retardation protein (FMRP). FMRP regulates the translation of numerous mRNAs and its loss disturbs the composition of proteins important for dendritic spine and synapse development. Here, we investigated whether the astrocyte-derived factors hevin and SPARC, known to regulate excitatory synapse development, have altered expression in FXS. Specifically, we analyzed the expression of these factors in wild-type (WT) mice and in fragile X mental retardation 1 (Fmr1) knock-out (KO) mice that lack FMRP expression...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28900090/-method-for-the-molecular-cytogenetic-visualization-of-fragile-site-fraxa
#14
T S Bobokova, N A Lemskaya, I S Kolesnikova, D V Yudkin
Fragile X syndrome is one of the most common reasons for human hereditary mental retardation. It is associated with the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene, which results in the suppression of its expression and the development of the disease. At present, methods based on PCR and Southern blot analysis are used for diagnostics of the fragile X syndrome. The presence of a fragile site FRAXA on the X chromosome is typical for patients with this pathology. We developed a method of visualizing this site in cell cultures obtained from patients using the fluorescent in situ hybridization (FISH) and the combination of two probes...
July 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28899123/subchondral-bone-microarchitecture-analysis-in-the-proximal-tibia-at-7-t-mri
#15
Christoph A Agten, Stephen Honig, Punam K Saha, Ravinder Regatte, Gregory Chang
Background Bone remodels in response to mechanical loads and osteoporosis results from impaired ability of bone to remodel. Bone microarchitecture analysis provides information on bone quality beyond bone mineral density (BMD). Purpose To compare subchondral bone microarchitecture parameters in the medial and lateral tibia plateau in individuals with and without fragility fractures. Material and Methods Twelve female patients (mean age = 58 ± 15 years; six with and six without previous fragility fractures) were examined with dual-energy X-ray absorptiometry (DXA) and 7-T magnetic resonance imaging (MRI) of the proximal tibia...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28899012/reply-neuronal-intranuclear-hyaline-inclusion-disease-and-fragile-x-associated-tremor-ataxia-syndrome-a-morphological-and-molecular-dilemma
#16
Jun Sone, Tomohiko Nakamura, Haruki Koike, Masahisa Katsuno, Fumiaki Tanaka, Yasushi Iwasaki, Mari Yoshida, Gen Sobue
No abstract text is available yet for this article.
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28899011/neuronal-intranuclear-hyaline-inclusion-disease-and-fragile-x-associated-tremor-ataxia-syndrome-a-morphological-and-molecular-dilemma
#17
Ellen Gelpi, Teresa Botta-Orfila, Laia Bodi, Stefanie Marti, Gabor Kovacs, Oriol Grau-Rivera, Manuel Lozano, Raquel Sánchez-Valle, Esteban Muñoz, Francesc Valldeoriola, Javier Pagonabarraga, Gian-Gaetano Tartaglia, Montserrat Milà
No abstract text is available yet for this article.
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28895261/the-effects-of-optimism-religion-and-hope-on-mood-and-anxiety-disorders-in-women-with-the-fmr1-premutation
#18
E P Lowell, B L Tonnsen, D B Bailey, J E Roberts
BACKGROUND: The FMR1 premutation, caused by a CGG trinucleotide repeat expansion on the FMR1 gene, has been identified as a genetic risk factor for mood and anxiety disorders. Building on recent studies identifying increased risk for mood and affective disorders in this population, we examined effects of potential protective factors (optimism, religion, hope) on depression and anxiety diagnoses in a prospective, longitudinal cohort. METHODS: Eighty-three women with the FMR1 premutation participated in the Structured Clinical Interview for DSM-IV-TR Disorders at two-time points, 3 years apart...
October 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28894415/loss-of-fmrp-impaired-hippocampal-long-term-plasticity-and-spatial-learning-in-rats
#19
Yonglu Tian, Chaojuan Yang, Shujiang Shang, Yijun Cai, Xiaofei Deng, Jian Zhang, Feng Shao, Desheng Zhu, Yunbo Liu, Guiquan Chen, Jing Liang, Qiang Sun, Zilong Qiu, Chen Zhang
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the FMR1 gene that inactivate expression of the gene product, the fragile X mental retardation 1 protein (FMRP). In this study, we used clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) technology to generate Fmr1 knockout (KO) rats by disruption of the fourth exon of the Fmr1 gene. Western blotting analysis confirmed that the FMRP was absent from the brains of the Fmr1 KO rats (Fmr1(exon4-KO) )...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28888471/altered-expression-of-the-fmr1-splicing-variants-landscape-in-premutation-carriers
#20
Elizabeth Tseng, Hiu-Tung Tang, Reem Rafik AlOlaby, Luke Hickey, Flora Tassone
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. In addition, 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in FMR1 mRNA levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the FMR1 associated disorders observed in premutation carriers...
September 6, 2017: Biochimica et Biophysica Acta
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