Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

Henry Sung Ching Wong; Ying Ju Lin; Hsing Fang Lu; Wen Ling Liao; Chien Hsiun Chen; Jer Yuarn Wu; Wei Chiao Chang; Fuu Jen Tsai

doi:10.1186/s12929-019-0581-2

Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

Henry Sung Ching Wong, Ying Ju Lin, Hsing Fang Lu, Wen Ling Liao, Chien Hsiun Chen, Jer Yuarn Wu, Wei Chiao Chang, Fuu Jen Tsai

研究成果: 雜誌貢獻 › 文章 › 同行評審

1 引文斯高帕斯（Scopus）

摘要

Background: Genetic factors, dysregulation in the endocrine system, cytokine and paracrine factors are implicated in the pathogenesis of familial short stature (FSS). Nowadays, the treatment choice for FSS is limited, with only recombinant human growth hormone (rhGH) being available. Methods: Herein, starting from the identification of 122 genetic loci related to FSS, we adopted a genetic-driven drug discovery bioinformatics pipeline based on functional annotation to prioritize crucial biological FSS-related genes. These genes were suggested to be potential targets for therapeutics. Results: We discovered five druggable subnetworks, which contained seven FSS-related genes and 17 druggable targerts. Conclusions: This study provides a valuable drug repositioning accompanied by corresponding targetable gene clusters for FSS therapy.

原文	英語
文章編號	91
期刊	Journal of Biomedical Science
卷	26
發行號	1
DOIs	https://doi.org/10.1186/s12929-019-0581-2
出版狀態	已發佈 - 11月 7 2019

ASJC Scopus subject areas

內分泌學、糖尿病和代謝
分子生物學
臨床生物化學
細胞生物學
生物化學（醫學）
藥學（醫學）

UN SDG

此研究成果有助於以下永續發展目標

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10.1186/s12929-019-0581-2

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MOESM9 of Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning
Wong, H.S.-C. (Creator), Tsai, F.-J. (Contributor), Lu, H.-F. (Contributor), Chang, W.-C. (Contributor), Lin, Y.-J. (Creator), Liao, W.-L. (Creator), Wu, J.-Y. (Contributor) & Chen, C.-H. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10270469.v1, https://doi.org/10.6084%2Fm9.figshare.10270469.v1
資料集: Dataset
MOESM4 of Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning
Chen, C.-H. (Contributor), Lu, H.-F. (Contributor), Liao, W.-L. (Creator), Wong, H.S.-C. (Creator), Wu, J.-Y. (Contributor), Chang, W.-C. (Contributor), Lin, Y.-J. (Creator) & Tsai, F.-J. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10270445.v1, https://doi.org/10.6084%2Fm9.figshare.10270445.v1
資料集: Dataset
MOESM3 of Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning
Liao, W.-L. (Creator), Chang, W.-C. (Contributor), Wu, J.-Y. (Contributor), Tsai, F.-J. (Contributor), Lin, Y.-J. (Creator), Wong, H.S.-C. (Creator), Chen, C.-H. (Contributor) & Lu, H.-F. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10270439.v1, https://doi.org/10.6084%2Fm9.figshare.10270439.v1
資料集: Dataset

引用此

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title = "Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning",

abstract = "Background: Genetic factors, dysregulation in the endocrine system, cytokine and paracrine factors are implicated in the pathogenesis of familial short stature (FSS). Nowadays, the treatment choice for FSS is limited, with only recombinant human growth hormone (rhGH) being available. Methods: Herein, starting from the identification of 122 genetic loci related to FSS, we adopted a genetic-driven drug discovery bioinformatics pipeline based on functional annotation to prioritize crucial biological FSS-related genes. These genes were suggested to be potential targets for therapeutics. Results: We discovered five druggable subnetworks, which contained seven FSS-related genes and 17 druggable targerts. Conclusions: This study provides a valuable drug repositioning accompanied by corresponding targetable gene clusters for FSS therapy.",

keywords = "Drug repositioning/repurposing, Familial short stature, Genome-wide association study, Pharmacogenomics, Single-nucleotide polymorphism",

author = "Wong, {Henry Sung Ching} and Lin, {Ying Ju} and Lu, {Hsing Fang} and Liao, {Wen Ling} and Chen, {Chien Hsiun} and Wu, {Jer Yuarn} and Chang, {Wei Chiao} and Tsai, {Fuu Jen}",

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AU - Wong, Henry Sung Ching

AU - Lin, Ying Ju

AU - Lu, Hsing Fang

AU - Liao, Wen Ling

AU - Chen, Chien Hsiun

AU - Wu, Jer Yuarn

AU - Chang, Wei Chiao

AU - Tsai, Fuu Jen

PY - 2019/11/7

Y1 - 2019/11/7

N2 - Background: Genetic factors, dysregulation in the endocrine system, cytokine and paracrine factors are implicated in the pathogenesis of familial short stature (FSS). Nowadays, the treatment choice for FSS is limited, with only recombinant human growth hormone (rhGH) being available. Methods: Herein, starting from the identification of 122 genetic loci related to FSS, we adopted a genetic-driven drug discovery bioinformatics pipeline based on functional annotation to prioritize crucial biological FSS-related genes. These genes were suggested to be potential targets for therapeutics. Results: We discovered five druggable subnetworks, which contained seven FSS-related genes and 17 druggable targerts. Conclusions: This study provides a valuable drug repositioning accompanied by corresponding targetable gene clusters for FSS therapy.

AB - Background: Genetic factors, dysregulation in the endocrine system, cytokine and paracrine factors are implicated in the pathogenesis of familial short stature (FSS). Nowadays, the treatment choice for FSS is limited, with only recombinant human growth hormone (rhGH) being available. Methods: Herein, starting from the identification of 122 genetic loci related to FSS, we adopted a genetic-driven drug discovery bioinformatics pipeline based on functional annotation to prioritize crucial biological FSS-related genes. These genes were suggested to be potential targets for therapeutics. Results: We discovered five druggable subnetworks, which contained seven FSS-related genes and 17 druggable targerts. Conclusions: This study provides a valuable drug repositioning accompanied by corresponding targetable gene clusters for FSS therapy.

KW - Drug repositioning/repurposing

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KW - Genome-wide association study

KW - Pharmacogenomics

KW - Single-nucleotide polymorphism

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Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

摘要

ASJC Scopus subject areas

UN SDG

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MOESM9 of Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

MOESM4 of Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

MOESM3 of Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

引用此