Increase of NADPH-diaphorase Expression in Hypothalamus of Stat4 Knockout Mice

Hong, Minha; Song, Jeong Yoon; Yun, Dong Hwan; Cho, Jeong-Je; Chung, Joo‐Ho

doi:10.4196/kjpp.2009.13.5.337

Cited by 2 publications

(1 citation statement)

References 23 publications

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“…Furthermore, they identified STAT3 as one of the four genes that are differentially expressed following 15q13.3 deletions [ 149 ]. It has been demonstrated that STAT4 null mice showed impaired IL12-mediated functions [ 150 ]. IL-2 is an activator of the nitric oxide synthase [ 89 ], which has been demonstrated to be important for synaptic plasticity [ 151 ] suggesting that 15q13.3 deletion might modulate the synaptic plasticity through the STAT4/IL12/NOS pathway.…”

Section: High-risk Copy-number Variants (Cnvs): a Link Between Genmentioning

confidence: 99%

Modulating Neuroinflammation to Treat Neuropsychiatric Disorders

Radtke

Chapman

Hall

et al. 2017

BioMed Research International

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Neuroinflammation is recognised as one of the potential mechanisms mediating the onset of a broad range of psychiatric disorders and may contribute to nonresponsiveness to current therapies. Both preclinical and clinical studies have indicated that aberrant inflammatory responses can result in altered behavioral responses and cognitive deficits. In this review, we discuss the role of inflammation in the pathogenesis of neuropsychiatric disorders and ask the question if certain genetic copy-number variants (CNVs) associated with psychiatric disorders might play a role in modulating inflammation. Furthermore, we detail some of the potential treatment strategies for psychiatric disorders that may operate by altering inflammatory responses.

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Section: High-risk Copy-number Variants (Cnvs): a Link Between Genmentioning

confidence: 99%

Modulating Neuroinflammation to Treat Neuropsychiatric Disorders

Radtke

Chapman

Hall

et al. 2017

BioMed Research International

View full text Add to dashboard Cite

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Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

Pichon

Kibiryeva

et al. 2013

Eur J Hum Genet

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We identified a novel homozygous 15q13.3 microdeletion in a young boy, with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness, congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. The mechanisms by which the genes in the deleted region exert their effect are unclear. In this paper, we probed the role of downstream effects of the deletions as a contributing mechanism to the molecular basis of the observed phenotype. We analyzed gene expression of lymphoblastoid cells derived from peripheral blood of the proband and his relatives to ascertain the relative effects of the homozygous and heterozygous deletions. We identified 267 genes with apparent differential expression between the proband with the homozygous deletion and 3 age-and sex-matched typically developing controls. Several of the differentially expressed genes are known to influence neurodevelopment and muscular function, and thus may contribute to the observed cognitive impairment and hypotonia. We further investigated the role of CHRNA7 by measuring TNFa modulation (a potentially important pathway in regulating synaptic plasticity). We found that the cell line with the homozygous deletion lost the ability to inhibit the activation of tumor necrosis factor-a secretion. Our findings suggest downstream genes that may have been altered by the 15q13.3 homozygous deletion, and thus contributed to the severe developmental encephalopathy of the proband. Furthermore, we show that a potentially important pathway in learning and development is affected by the deletion of CHRNA7.

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Increase of NADPH-diaphorase Expression in Hypothalamus of Stat4 Knockout Mice

Cited by 2 publications

References 23 publications

Modulating Neuroinflammation to Treat Neuropsychiatric Disorders

Modulating Neuroinflammation to Treat Neuropsychiatric Disorders

Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

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