New research on Fragile X syndrome reinforces importance of early detection

(Vanderbilt University) New insights into the long-lasting effects of Fragile X syndrome on connections in the brain during early development highlight the importance of early detection and treatment.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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ACS Chemical NeuroscienceDOI: 10.1021/acschemneuro.8b00600
Source: ACS Chemical Neuroscience - Category: Neuroscience Authors: Source Type: research
Contributors : Stephen Tran ; Hyun-Ik Jun ; Jae H Bahn ; Adel Azghadi ; Gokul Ramaswami ; Eric Van Nostrand ; Thai Nguyen ; Yun-Hua E Hsiao ; Chang H Lee ; Gabriel Pratt ; Gene W Yeo ; Daniel H Geschwind ; Xinshu XiaoSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAutism spectrum disorder (ASD) is a neurodevelopmental disease with complex heterogeneity and aberrations in multiple levels of neurobiology. Recently, our understanding of the molecular abnormalities in ASD has been greatly expanded through transcriptomic analyses of postmortem brains. However, a crucial molecular pathway i...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Stephen Tran ; Hyun-Ik Jun ; Jae H Bahn ; Adel Azghadi ; Gokul Ramaswami ; Eric Van Nostrand ; Thai Nguyen ; Yun-Hua E Hsiao ; Chang H Lee ; Gabriel Pratt ; Gene W Yeo ; Daniel H Geschwind ; Xinshu XiaoSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAutism spectrum disorder (ASD) is a neurodevelopmental disease with complex heterogeneity and aberrations in multiple levels of neurobiology. Recently, our understanding of the molecular abnormalities in ASD has been greatly expanded through transcriptomic analyses of postmortem brains. However, a crucial molecular pathway i...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Stephen Tran ; Hyun-Ik Jun ; Jae H Bahn ; Adel Azghadi ; Gokul Ramaswami ; Eric Van Nostrand ; Thai Nguyen ; Yun-Hua E Hsiao ; Chang H Lee ; Gabriel Pratt ; Gene W Yeo ; Daniel H Geschwind ; Xinshu XiaoSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAutism spectrum disorder (ASD) is a neurodevelopmental disease with complex heterogeneity and aberrations in multiple levels of neurobiology. Recently, our understanding of the molecular abnormalities in ASD has been greatly expanded through transcriptomic analyses of postmortem brains. However, a crucial molecular pathway i...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Publication date: Available online 10 December 2018Source: Reproductive BioMedicine OnlineAuthor(s): Lisa M Pastore, Mindy S Christianson, Bailey McGuinness, Kamaria Cayton Vaught, Jacqueline Y. Maher, William G KearnsABSTRACTWhile it is well known that FMR1 CCG trinucleotide repeat expansions are associated with Fragile X Syndrome (full mutations) and primary ovarian insufficiency (premutation range), the effect of FMR1 on fertility treatment success is less clear. This paper reviews the impact of FMR1 CGG repeat lengths on in vitro fertilization (IVF) outcomes after controlled ovarian hyperstimulation has commenced. PubM...
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
New J. Chem., 2018, Accepted Manuscript DOI: 10.1039/C8NJ04686G, PaperZiqi Ren, Xiaoqian Zhu, Hehong Lv, Heng Liu, Hanping He, Xiuhua Zhang, Shengfu Wang Fragile X syndrome, which is difficult to treat, has great correlation with CGG trinucleotide repeat. Detection of the repeat sequence is very important for the early diagnosis of the neurodegenerative... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - New J. Chem. latest articles - Category: Chemistry Authors: Source Type: research
Conclusion Results suggest both similarities and differences in the pragmatic profiles observed across different neurodevelopmental disabilities, including idiopathic and FXS-associated cases of ASD, as well as an important sex difference in FXS-ASD. These findings and congruency between the 2 language sample analysis techniques together have important implications for assessment and intervention efforts.
Source: Journal of Speech, Language, and Hearing Research - Category: Speech-Language Pathology Source Type: research
Common-variant associations with fragile X syndrome, Published online: 07 December 2018; doi:10.1038/s41380-018-0290-3Common-variant associations with fragile X syndrome
Source: Molecular Psychiatry - Category: Psychiatry Authors: Source Type: research
Publication date: Available online 5 December 2018Source: Life SciencesAuthor(s): Chao Wang, Liang Ge, Jianban Wu, Xuan Wang, Liudi YuanAbstractAimsFragile X mental retardation protein (FMRP) plays a vital role in mRNA trafficking and translation inhibition to regulate the synthesis of local proteins in neuronal axons and dendritic terminals. However, there are no reports on microRNA (miRNA)-mediated regulation of FMRP levels in Drosophila. Here, we aimed to identify miRNAs regulating FMRP levels in Drosophila.Main methodsUsing online software, we predicted and selected 11 miRNAs potentially acting on the Drosophila fragil...
Source: Life Sciences - Category: Biology Source Type: research
Publication date: Available online 5 December 2018Source: NeuroscienceAuthor(s): Teresa H. Wen, Jonathan W. Lovelace, Iryna M. Ethell, Devin K. Binder, Khaleel A. RazakAbstractFragile X Syndrome (FXS) is a leading genetic cause of autism and intellectual disabilities. Sensory processing deficits are common in humans with FXS and an animal model, the Fmr1 knockout (KO) mouse, manifesting in the auditory system as debilitating hypersensitivity and abnormal electroencephalographic (EEG) and event-related potential (ERP) phenotypes. FXS is a neurodevelopmental disorder, but how EEG/ERP phenotypes change during development is u...
Source: Neuroscience - Category: Neuroscience Source Type: research
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