The biallelic expression pattern of X‐linked genes in Klinefelter syndrome by pyrosequencing

Chung, In Hyuk; Lee, Han Chul; Park, Jung Hoon; Ko, Jung Jae; Lee, Sook Hwan; Chung, Tae-Gyu; Kim, Hyun‐Joo; Cha, Kwang-Yul; Lee, Suman

doi:10.1002/ajmg.a.31102

Cited by 4 publications

(3 citation statements)

References 29 publications

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“…The pyrosequencing assay for eNOS À786T>C and 894G>T polymorphism was performed using Primer3 (http://frodo.wi.mit.edu/cgi-bin/primer3/primer3_www.cgi) and Pyrosequencing Primer SNP Design Version 1.01 software (26)(27)(28). The sequences for pyrosequencing primers are shown in Table 1.…”

Section: Pyrosequencing Assay Of Enos L786t>c and 894g>t Polymorphismmentioning

confidence: 99%

The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men

Yun

Park

Song³

et al. 2008

Fertility and Sterility

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Section: Pyrosequencing Assay Of Enos L786t>c and 894g>t Polymorphismmentioning

confidence: 99%

The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men

Yun

Park

Song³

et al. 2008

Fertility and Sterility

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“…Whether this is due to differences in receptor expression at baseline, or in response to activation, or whether it is due to alterations in intra-cellular signalling pathways, has not been clarified. Moreover, both TLR7 and TLR8 can escape X-chromosome inactivation (XCI) in some individuals (Chung et al 2006;Souyris et al 2018). Given these observations, we first compared gene expression between males and females.…”

Section: Does Tlr7 and Tlr8 Gene Expression Differ Between Sexes?mentioning

confidence: 99%

“…An important consideration for the study of TLR7 and TLR8 is their reported escape from XCI (Chung et al 2006;Souyris et al 2018). Souyris et al (2018) findings indicate that approximately 20% of females express both TLR7 gene copies.…”

Section: Tlr7mentioning

confidence: 99%

The impact of asthma, toll-like receptors 7 and 8, genetic and clinical determinants on antiviral immune response

Murray¹

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Plasmacytoid dendritic cells (pDC) are an important type I interferon producer that play an important role in the first line of host defence during viral infection. Abnormalities in pDC numbers and function have been associated with several health conditions. Quantifying pDC is important for understanding pDC related immune responses in viral infections and other diseases, however the current methods for quantifying pDC using flow cytometry have limited utility in large cohort studies involving multiple centres with limited access to flow cytometry. We reasoned that examining gene expression of the pDC marker C-type lectin domain family 4 member C (CLEC4C, also known as CD303 and BDCA2) in combination with pDC exclusive leukocyte immunoglobulin like receptor A4 (LILRA4, also known as CD85g and ILT7) might provide a more practical method that could be applied to multi-centre studies. Our results show a moderate correlation between pDC numbers measured by surface staining and CLEC4C gene expression in whole blood (rho = 0.39, p = .037, as well as a high correlation between CLEC4C gene expression in whole blood and peripheral blood mononuclear cells (rho = 0.79, p < .001). LILRA4 gene expression did not provide additional useful information. Our results indicate that measuring CLEC4C gene expression can provide an alternative method for quantifying pDC numbers in human samples. vii Submitted manuscripts included in this thesis No manuscripts submitted for publication. Other publications during candidature Peer-reviewed papers Murray, Liisa; Xi, Yang and Upham, John W. (2019). CLEC4C gene expression can be used to quantify circulating plasmacytoid dendritic cells.

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Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility

Lee

Jeong

Lee³

et al. 2006

Human Reproduction

118

114

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The biallelic expression pattern of X‐linked genes in Klinefelter syndrome by pyrosequencing

Cited by 4 publications

References 29 publications

The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men

The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men

The impact of asthma, toll-like receptors 7 and 8, genetic and clinical determinants on antiviral immune response

Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility

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