Functional sequence variants within the SIRT1 gene promoter in indirect inguinal hernia

Han, Qingluan; Li, Wei; Fan, Hongjin; Xing, Qining; Pang, Shuchao; Yan, Bo

doi:10.1016/j.gene.2014.05.058

Cited by 12 publications

(9 citation statements)

References 47 publications

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“…Consequently, disturbances in the regulation of SIRT1 expression or function have been connected to several major diseases, such as diabetes, cancer, and cardiac disease (22,(28)(29)(30). SIRT1 promoter polymorphisms have also been associated with many pathologies, including cardiovascular disease, type 2 diabetes, Parkinson's disease, systemic lupus erythematosus, and inguinal hernia, but in many cases the mechanisms involved have not been identified (31)(32)(33)(34)(35).…”

Section: Sirt1mentioning

confidence: 99%

Who watches the watchmen? Regulation of the expression and activity of sirtuins

2016

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Sirtuins (SIRT1-7) are a family of nicotine adenine dinucleotide (NAD)-dependent enzymes that catalyze post-translational modifications of proteins. Together, they regulate crucial cellular functions and are traditionally associated with aging and longevity. Dysregulation of sirtuins plays an important role in major diseases, including cancer and metabolic, cardiac, and neurodegerative diseases. They are extensively regulated in response to a wide range of stimuli, including nutritional and metabolic challenges, inflammatory signals or hypoxic and oxidative stress. Each sirtuin is regulated individually in a tissue- and cell-specific manner. The control of sirtuin expression involves all the major points of regulation, including transcriptional and post-translational mechanisms and microRNAs. Collectively, these mechanisms control the protein levels, localization, and enzymatic activity of sirtuins. In many cases, the regulators of sirtuin expression are also their substrates, which lead to formation of intricate regulatory networks and extensive feedback loops. In this review, we highlight the mechanisms mediating the physiologic and pathologic regulation of sirtuin expression and activity. We also discuss the consequences of this regulation on sirtuin function and cellular physiology.-Buler, M., Andersson, U., Hakkola, J. Who watches the watchmen? Regulation of the expression and activity of sirtuins.

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Section: Sirt1mentioning

confidence: 99%

Who watches the watchmen? Regulation of the expression and activity of sirtuins

2016

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“…1 For this reason, methods for predicting the impact of SNVs have historically focused on the high-yield category of non-synonymous coding SNVs. The existence of disease-associated synonymous mutations 32,33 and nocoding variations with effects on lincRNA, 34 miRNA, 35,36 and promoters 37,38 has produced interest in other types of mutations as well, but different tools will be needed to analyze these types of variations and such tools are comparatively still new and untested. [39][40][41] Most nsSNVs affect protein function but in distinct ways nsSNVs may affect folding, 42,43 binding affinity, 44,45 expression, 46 post-translational modification, 47,48 and other protein features.…”

Section: Most Tools Focus On Coding Snvs Rather Than Other Snvsmentioning

confidence: 99%

“…Future tools will hopefully expand upon this work and may also begin to predict how noncoding SNVs alter methylation patterns and other epigenetic changes. 203,204 With the discovery that SNVs in noncoding regions are sometimes disease associated, [34][35][36][37][38] additional methods to deal with these variants will likely arise over time to tackle this problem.…”

Section: Impact Of Protein Function Loss On Phenotypementioning

confidence: 99%

Single nucleotide variations: Biological impact and theoretical interpretation

Koire²,

et al. 2014

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Genome-wide association studies (GWAS) and whole-exome sequencing (WES) generate massive amounts of genomic variant information, and a major challenge is to identify which variations drive disease or contribute to phenotypic traits. Because the majority of known disease-causing mutations are exonic non-synonymous single nucleotide variations (nsSNVs), most studies focus on whether these nsSNVs affect protein function. Computational studies show that the impact of nsSNVs on protein function reflects sequence homology and structural information and predict the impact through statistical methods, machine learning techniques, or models of protein evolution. Here, we review impact prediction methods and discuss their underlying principles, their advantages and limitations, and how they compare to and complement one another. Finally, we present current applications and future directions for these methods in biological research and medical genetics.

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“…Zhang et al's [7] team have found that the functional sequence variants of some genes may be a risk factor for indirect inguinal hernia, such as gene TBX1, gene TBX3, gene SIRT1, and gene GATA6. These variants may affect the differentiation and proliferation of human skeletal muscles and fibroblasts [7][8][9][10]. …”

Section: Etiologymentioning

confidence: 99%

Individualized Treatment of Inguinal Hernia in Children

Chen¹,

Chu²,

Shen³

et al. 2017

Hernia

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The incidence of inguinal hernias in various age groups of children ranges from 0.8 to 4.4%. Pediatric indirect inguinal hernia is congenital, originating in the patent processus vaginalis. The inguinal hernia repair is one of the most common pediatric operations. The traditional high hernia sac ligation is the primary treatment for younger patients from 1 to 13 years of age and can correct the condition. The authors performed the high ligation of the hernia sac by the laparoscopic approach for the patients under 13 years old and achieved good therapeutic results in the last 10 years. However, through our clinical study, the authors found that the simple high ligation of hernia sac is inadequate for patients from 13 to 18 years of age, who had a longer medical history, larger diameter of the internal inguinal ring, and more serious defects of the transverse fascia. Pediatric inguinal hernias are prone to postoperative recurrence if the patients were only treated with the high ligation of hernia sac. To repair the transverse fascia and strengthen the posterior wall of the inguinal canal, Lichtenstein hernioplasty with a biological patch was performed for the patients from 13 to 18 years in the authors' department. The aims of this chapter are to narrate the individualized treatment of inguinal hernia in children and try to provide relatively reasonable operative methods.

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Functional sequence variants within the SIRT1 gene promoter in indirect inguinal hernia

Cited by 12 publications

References 47 publications

Who watches the watchmen? Regulation of the expression and activity of sirtuins

Who watches the watchmen? Regulation of the expression and activity of sirtuins

Single nucleotide variations: Biological impact and theoretical interpretation

Individualized Treatment of Inguinal Hernia in Children

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