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A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

Publikováno v: Brain Sciences, Vol 10, Iss 694, p 694 (2020)
Brain Sciences
Volume 10
Issue 10

Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized
however, deli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a4aa0123f2f7e3639c7905a098599c
https://doi.org/10.3390/brainsci10100694

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Retracted: Upregulation of Ras/Raf/ERK1/2 signaling and ERK5 in the brain of autistic subjects

Autor: H. Zou, Ashfaq M. Sheikh, Mazhar Malik, W. T. Brown, X. Li, K. Yang, G. Wen

Publikováno v: Genes, Brain and Behavior. 10:834-843

Autism is a neurodevelopmental disorder characterized by impairments in social interaction, verbal communication and repetitive behaviors. A number of studies have shown that the Ras/Raf/ERK1/2 (extracellular signal-regulated kinase) signaling pathwa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ccd7dc673a4e2a9477f76fc160bc0fef
https://doi.org/10.1111/j.1601-183x.2011.00723.x

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Retracted: Association of upregulated Ras/Raf/ERK1/2 signaling with autism

Autor: Kathryn K. Chadman, X. Li, Ashfaq M. Sheikh, K. Yang, G. Wen, Mazhar Malik, Y. Yu, H. Zou, W. T. Brown

Publikováno v: Genes, Brain and Behavior. 10:615-624

Autism is a neurodevelopmental disorder characterized by impairments in social interaction, verbal communication and repetitive behaviors. BTBR mouse is currently used as a model for understanding mechanisms that may be responsible for the pathogenes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b312693d66a70817250a6d09b39722a
https://doi.org/10.1111/j.1601-183x.2011.00702.x

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Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism

Autor: Abha Chauhan, W T Brown, Kulbir Kaur, Ved Chauhan, Feng Gu, Musthafa Mohamed Essa, Jerzy Wegiel

Publikováno v: Journal of Neurochemistry. 117:209-220

Mitochondria play important roles in generation of free radicals, ATP formation, and in apoptosis. We studied the levels of mitochondrial electron transport chain (ETC) complexes, that is, complexes I, II, III, IV, and V, in brain tissue samples from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d672f47f693f9d394dc01cf7ce21b59f
https://doi.org/10.1111/j.1471-4159.2011.07189.x

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Association of autism severity with a monoamine oxidase A functional polymorphism

Autor: Xudong Liu, Edmund C. Jenkins, Bradley N. White, Ira L. Cohen, W. T. Brown, J. J. A. Holden, Chris K. Schutz

Publikováno v: Clinical Genetics. 64:190-197

A functional polymorphism (the upstream variable-number tandem repeat region, or uVNTR) in the monoamine oxidase A (MAOA) promoter region has been reported to be associated with behavioral abnormalities as well as increased serotonergic responsivity.

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https://doi.org/10.1034/j.1399-0004.2003.00115.x

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Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

Autor: P Parfrey, Dorota N. Moroziewicz, Rocksheng Zhong, N Zhong, W T Brown, J R Currie, W Ju, S Moore

Publikováno v: Journal of Medical Genetics. 39:822-825

NCL2, the neuronal ceroid lipofuscinosis (NCL) with a classical late infantile onset (LINCL or Jansky-Bielschowsky disease, MIM 204500) is among the most common childhood neurodegenerative disorders. Usually, affected children show generalised tonic-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca259cc36768b9e9a8a874152cdf585
https://doi.org/10.1136/jmg.39.11.822

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Stereological study of the neuronal number and volume of 38 brain subdivisions of subjects diagnosed with autism reveals significant alterations restricted to the striatum, amygdala and cerebellum

Autor: Thomas Wisniewski, Humi Imaki, W T Brown, Jarek Wegiel, Krzysztof Nowicki, Shuang Yong Ma, Eric London, Michael Flory, Jerzy Wegiel, Izabela Kuchna, Ira L. Cohen

Publikováno v: Acta Neuropathologica Communications

Introduction A total of 38 brain cytoarchitectonic subdivisions, representing subcortical and cortical structures, cerebellum, and brainstem, were examined in 4- to 60-year-old subjects diagnosed with autism and control subjects (a) to detect a globa

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https://doi.org/10.1186/s40478-014-0141-7

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Increased low-level chromosome 21 mosaicism in older individuals with Down syndrome

Autor: D. Devenny, B. Canto, Edmund C. Jenkins, Nicole Schupf, Marilyn Genovese, D. Kapell, Ling Ling Ye, W. T. Brown, M. Harris, Joseph H. Lee

Publikováno v: American Journal of Medical Genetics. 68:147-151

During a study of the familial aggregation of Down syndrome (DS) and Alzheimer disease (AD), we observed an increase in mosaicism for disomy 21 in older individuals with DS. In a total of 213 DS subjects who were studied cytogenetically, only 1 of 12

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5357aa01b431e42f36de957011cc1fcb
https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<147::aid-ajmg5>3.0.co

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Characterization of the of the Pathological and Biochemical Markers That Correlate to the Clinical Features of Autism. Subproject 2. Contribution of Significant Delay of Neuronal Development and Metabolic Shift of Neurons to Clinical Phenotype of Autism

Autor: Jerzy Wegiel, W. T. Brown

The postmortem study of the historically largest cohort including 32 brains of individuals with idiopathic autism, 12 brains of individuals with autism associated with chromosome15 duplication and 28 brains of control subjects, and examination of 36

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::378c3d0beffeda925d90ff3a7112b8d9
https://doi.org/10.21236/ada584307

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