keyword
MENU ▼
Read by QxMD icon Read
search

Fragile X Syndrome

keyword
https://www.readbyqxmd.com/read/28211606/nrf2-a-novel-therapeutic-target-in-fragile-x-syndrome-is-modulated-by-nnz2566
#1
Robert M J Deacon, Michael J Hurley, Camila Martínez Rebolledo, Mike Snape, Francisco J Altimiras, Leandro Farías, Michael Pino, Rodolfo Biekofsky, Larry Glass, Patricia Cogram
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism. Progress in basic neuroscience has led to identification of molecular targets for treatment in FXS; however, there is a gap in translation to targeted therapies in humans. The present study introduces a novel therapeutic target for FXS: nuclear factor (erythroid-derived 2)-like 2 (Nrf2), a transcription factor known to induce expression of over 100 cytoprotective genes...
February 17, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28210826/stranger-fear-and-early-risk-for-social-anxiety-in-preschoolers-with-fragile-x-syndrome-contrasted-to-autism-spectrum-disorder
#2
Jessica F Scherr, Abigail L Hogan, Deborah Hatton, Jane E Roberts
This study investigated behavioral indicators of social fear in preschool boys with fragile X syndrome (FXS) with a low degree of autism spectrum disorder (ASD) symptoms (FXS-Low; n = 29), FXS with elevated ASD symptoms (FXS-High; n = 25), idiopathic ASD (iASD; n = 11), and typical development (TD; n = 36). Gaze avoidance, escape behaviors, and facial fear during a stranger approach were coded. Boys with elevated ASD symptoms displayed more avoidant gaze, looking less at the stranger and parent than those with low ASD symptoms across etiologies...
February 16, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28203608/modeling-fragile-x-syndrome-in-neurogenesis-an-unexpected-phenotype-and-a-novel-tool-for-future-therapies
#3
Barbara Bardoni, Maria Capovilla, Enzo Lalli
FMRP is an RNA-binding protein involved in synaptic translation. Its absence causes a form of intellectual disability, the Fragile X syndrome (FXS). Small neuroanatomical abnormalities, present both in human and mouse FMRP-deficient brains, suggest a subtle critical role of this protein in neurogenesis. Stable depletion of FMRP has been obtained in a mouse embryonic stem cell line Fmr1 (shFmr1 ES) that does not display morphological alterations, but an abnormal expression of a subset of genes mainly involved in neuronal differentiation and maturation...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#4
Amy E Margolis, Katie S Davis, Lisa S Pao, Amy Lewis, Xiao Yang, Gregory Tau, Guihu Zhao, Zhishun Wang, Rachel Marsh
Verbal-spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the difference between verbal IQ (VIQ) and performance IQ (PIQ) scores (the VIQ>PIQ discrepancy) is associated with reduced thickness in frontal and parietal cortices (inferior frontal, anterior cingulate, inferior parietal lobule, and supramarginal gyrus) that support cognitive control...
February 15, 2017: Developmental Science
https://www.readbyqxmd.com/read/28193118/validation-of-polymerase-chain-reaction-based-assay-to-detect-actual-number-of-cgg-repeats-in-fmr1-gene-in-indian-fragile-x-syndrome-patients
#5
Madhumita Roy Chowdhury, Sandeepa Chauhan, Anjali Dabral, B K Thelma, Neerja Gupta, Madhulika Kabra
Molecular genetic testing for fragile X (FX) is complicated due to the large variation in the size of CGG expansion. The aim of this study was to apply this new technique using AmplideX FMR1 PCR assay, which is considered a better diagnostic tool for detecting expanded alleles in Indian population. The primary objective was to identify the carrier status of females and to correlate the instability of premutation alleles in females with the repeat sizes. 24 children with FX based on rapid PCR and 29 female relatives of these patients were included...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28192196/quantification-of-various-app-mrna-isoforms-and-epistasis-in-lesch-nyhan-disease
#6
Khue Vu Nguyen, William L Nyhan
The present work is the development of a simple and specific kinetic method based on RT-PCR technique coupled with direct sequencing for quantification of various amyloid precursor protein-mRNA isoforms (APP-mRNA isoforms) in biological samples, especially for identifying the most abundant one that may decisive for the normal status or disease risk. Application of this kinetic method to the Lesch-Nyhan disease (LND) was performed and results indicated an epistasis between mutated hypoxanthine phosphoribosyltransferase1 (HPRT1) and APP genes...
February 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28183735/new-insights-into-the-regulatory-function-of-cyfip1-in-the-context-of-wave-and-fmrp-containing-complexes
#7
Sabiha Abekhoukh, H Bahar Sahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas-Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea Stachon, Steven Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Szatmari Peter, Isabel M Smith, Montserrat Milà, Adam C Smith, Angela Giangrande, Isabelle Caillé, Barbara Bardoni
CYtoplasmic FMRP Interacting Protein 1 (CYFIP1) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy. It is a member of a family of proteins that is very conserved during evolution, sharing high homology with dCYFIP, its Drosophila homolog. CYFIP1 interacts with the Fragile X Mental Retardation Protein (FMRP), whose absence causes the Fragile X Syndrome, and with the translation initiation factor eIF4E. It is a member of the WAVE Regulatory Complex (WRC), thus representing a link between translational regulation and actin cytoskeleton...
February 9, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28181877/an-in-silico-biomarker-based-method-for-the-evaluation-of-virtual-neuropsychiatric-drug-effects
#8
Peter J Siekmeier
The recent explosion in neuroscience research has markedly increased our understanding of the neurobiological correlates of many psychiatric illnesses, but this has unfortunately not translated into more effective pharmacologic treatments for these conditions. At the same time, researchers have increasingly sought out biological markers, or biomarkers, as a way to categorize psychiatric illness, as these are felt to be closer to underlying genetic and neurobiological vulnerabilities. While biomarker-based drug discovery approaches have tended to employ in vivo (e...
February 9, 2017: Neural Computation
https://www.readbyqxmd.com/read/28176767/intragenic-fmr1-disease-causing-variants-a-significant-mutational-mechanism-leading-to-fragile-x-syndrome
#9
Angélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Patrick Callier, Jean Muller, Gaetan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoit Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean-Louis Mandel, Laurence Faivre, Amélie Piton
Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo variant c...
February 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28173181/the-fmr1-promoter-is-selectively-hydroxymethylated-in-primary-neurons-of-fragile-x-syndrome-patients
#10
Rustam Esanov, Nadja S Andrade, Sarah Bennison, Claes Wahlestedt, Zane Zeier
No abstract text is available yet for this article.
November 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28161297/signaling-of-noncomprehension-in-communication-breakdowns-in-fragile-x-syndrome-down-syndrome-and-autism-spectrum-disorder
#11
Gary E Martin, Jamie Barstein, Jane Hornickel, Sara Matherly, Genna Durante, Molly Losh
: The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages...
January 26, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28157260/incidence-of-fragile-x-syndrome-in-ireland
#12
James J O'Byrne, Michael Sweeney, Deirdre E Donnelly, Deborah M Lambert, Eleanor D Beattie, Celine M Gervin, David E Barton, Sally A Lynch
Described as the commonest single gene cause of learning disability internationally, the incidence of Fragile X syndrome (FXS) has never previously been determined in Ireland. The aim of this work was to determine the observed incidence of FXS in the island of Ireland; the Republic of Ireland (ROI) and Northern Ireland (NI) separately and combined. Ascertainment was achieved for a cross-sectional study by a retrospective, clinical and laboratory database review of positive FXS cases, born in either ROI or NI, between years 2000-2009 inclusive...
February 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28145469/high-throughput-screen-detects-calcium-signaling-dysfunction-in-typical-sporadic-autism-spectrum-disorder
#13
Galina Schmunk, Rachel L Nguyen, David L Ferguson, Kenny Kumar, Ian Parker, J Jay Gargus
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca(2+) signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP3)-mediated Ca(2+) release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2 syndromes. We now extend those findings to a cohort of subjects with sporadic ASD without any known mutations...
February 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28144878/diverse-profiles-of-anxiety-related-disorders-in-fragile-x-cornelia-de-lange-and-rubinstein-taybi-syndromes
#14
Hayley Crawford, Jane Waite, Chris Oliver
Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales...
January 31, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28140743/the-roles-of-motor-activity-and-environmental-enrichment-in-intellectual-disability
#15
Andrea De Giorgio
In people with intellectual disabilities, an enriched environment can stimulate the acquisition of motor skills and could partially repair neuronal impairment thanks to exploration and motor activity. A deficit in environmental and motor stimulation leads to low scores in intelligence tests and can cause serious motor skill problems. Although studies in humans do not give much evidence for explaining basic mechanisms of intellectual disability and for highlighting improvements due to enriched environmental stimulation, animal models have been valuable in the investigation of these conditions...
January 31, 2017: Somatosensory & Motor Research
https://www.readbyqxmd.com/read/28139839/a-15-year-long-southern-blotting-analysis-of-fmr1-to-detect-female-carriers-and-for-prenatal-diagnosis-of-fragile-x-syndrome-in-taiwan
#16
Ching-Cherng Tzeng, Li-Ping Tsai, Yin-Kuang Chang, Yi-Ju Hung, Yih-Yuan Chang, Yu-Ping Su, Jeng-Jier Jiang, Hsi-Mi Liang
Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3,911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only two carriers were in the low-risk group, which indicated a prevalence of 1/1,955 women (95% confidence interval: 1/7,156-1/539)...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28137726/molecular-analyses-of-neurogenic-defects-in-a-human-pluripotent-stem-cell-model-of-fragile-x-syndrome
#17
Michael J Boland, Kristopher L Nazor, Ha T Tran, Attila Szücs, Candace L Lynch, Ryder Paredes, Flora Tassone, Pietro Paolo Sanna, Randi J Hagerman, Jeanne F Loring
New research suggests that common pathways are altered in many neurodevelopmental disorders including autism spectrum disorder; however, little is known about early molecular events that contribute to the pathology of these diseases. The study of monogenic, neurodevelopmental disorders with a high incidence of autistic behaviours, such as fragile X syndrome, has the potential to identify genes and pathways that are dysregulated in autism spectrum disorder as well as fragile X syndrome. In vitro generation of human disease-relevant cell types provides the ability to investigate aspects of disease that are impossible to study in patients or animal models...
January 29, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28137394/corrigendum-to-fragile-x-syndrome-are-signaling-lipids-the-missing-culprits-biochimie-130c-2016-188-194
#18
Ricardos Tabet, Nicolas Vitale, Hervé Moine
No abstract text is available yet for this article.
January 27, 2017: Biochimie
https://www.readbyqxmd.com/read/28131561/-fragile-x-syndrome-and-white-matter-abnormalities-case-study-of-two-brothers
#19
E Wallach, E Bieth, A Sevely, C Cances
Fragile X syndrome is the most usual cause of hereditary intellectual deficiency. Typical symptoms combine intellectual deficiency, social anxiety, intense emotional vigilance, and a characteristic facial dysmorphy. This is subsequent to a complete mutation of the FMR1 gene, considering a semidominant transmission linked to the unstable X. The expansion of the CGG triplet greater than 200 units combined with a high methylation pattern lead to a transcriptional silence of the FMR1 gene, and the protein product, the FMRP, is not synthesized...
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28119500/interference-of-the-complex-between-ncs-1-and-ric8a-with-phenothiazines-regulates-synaptic-function-and-is-an-approach-for-fragile-x-syndrome
#20
Alicia Mansilla, Antonio Chaves-Sanjuan, Nuria E Campillo, Ourania Semelidou, Loreto Martínez-González, Lourdes Infantes, Juana María González-Rubio, Carmen Gil, Santiago Conde, Efthimios M C Skoulakis, Alberto Ferrús, Ana Martínez, María José Sánchez-Barrena
The protein complex formed by the Ca(2+) sensor neuronal calcium sensor 1 (NCS-1) and the guanine exchange factor protein Ric8a coregulates synapse number and probability of neurotransmitter release, emerging as a potential therapeutic target for diseases affecting synapses, such as fragile X syndrome (FXS), the most common heritable autism disorder. Using crystallographic data and the virtual screening of a chemical library, we identified a set of heterocyclic small molecules as potential inhibitors of the NCS-1/Ric8a interaction...
February 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
keyword
keyword
58441
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"