Perfluorooctane sulfonate （PFOS） is a class of stable organic compounds with wide industrial,commercial, and consumer applications, such as in textiles, paper, pesticides, and shampoos;. It is readily absorbed, but ...Perfluorooctane sulfonate （PFOS） is a class of stable organic compounds with wide industrial,commercial, and consumer applications, such as in textiles, paper, pesticides, and shampoos;. It is readily absorbed, but poorly eliminated, with the elimination half-life of approximately 5 years;.Hence, there have been concerns regarding its potential damage to human health. Some studies展开更多
Objective To explore promoter methylation of HIC1gene and the expression of HIC1/SIRT1 related to the occurrence,development,and metastasis of papillary thyroid carcinoma.Methods Using Bisulfite sequencing PCR to anal...Objective To explore promoter methylation of HIC1gene and the expression of HIC1/SIRT1 related to the occurrence,development,and metastasis of papillary thyroid carcinoma.Methods Using Bisulfite sequencing PCR to analyze the promoter methylation of HIC1 gene.Using quantitative real-time PCR and Western blot to analyze expression differences of HIC1 and SIRT1 genes展开更多
Microtia,a congenital malformation affecting the external and middle ear,arises from disruptions during the development of embryonic branchial arches and cranial neural crest cells(CNCCs),making it the second most pre...Microtia,a congenital malformation affecting the external and middle ear,arises from disruptions during the development of embryonic branchial arches and cranial neural crest cells(CNCCs),making it the second most prevalent maxillofacial birth defect and a leading cause of conductive hearing loss.1 Aberrant gene expression is pivotal in microtia pathogenesis by influencing chondrocyte activities.Homeobox(HOX)genes stand out as regulators for proper skeletal patterning,and mutations within the HOX family have been implicated in microtia.2 Our transcriptomic microarray analysis of microtia revealed a substantial reduction in HOXB6 expression in auricle cartilage.展开更多
Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis....Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis.The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing(RNA-seq)in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence.RNA-seq data can be used to identify aberrantly spliced genes,detect allele-specific expression,and identify gene expression outliers.Amongst eight studies utilizing RNA-seq,a mean diagnostic uplift of 15%has been reported.Here,we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders.展开更多
基金supported by awards from National Natural Science Foundation of China [No.81703260]the Education Department of Jiangsu Province [No.16KJB330010]+2 种基金the Science and Technology Department of Jiangsu Province [No.BK20160227]the China Postdoctoral Science Foundation funded project [No.2016M601892]the Priority Academic Program for the Development of Jiangsu Higher Education Institutions(PAPD)
文摘Perfluorooctane sulfonate （PFOS） is a class of stable organic compounds with wide industrial,commercial, and consumer applications, such as in textiles, paper, pesticides, and shampoos;. It is readily absorbed, but poorly eliminated, with the elimination half-life of approximately 5 years;.Hence, there have been concerns regarding its potential damage to human health. Some studies
文摘Objective To explore promoter methylation of HIC1gene and the expression of HIC1/SIRT1 related to the occurrence,development,and metastasis of papillary thyroid carcinoma.Methods Using Bisulfite sequencing PCR to analyze the promoter methylation of HIC1 gene.Using quantitative real-time PCR and Western blot to analyze expression differences of HIC1 and SIRT1 genes
基金supported by the National Natural Science Foundation of China(No.82271889,82371173)the National Key Research and Development Program of China(No.2021YFC2701000)+1 种基金the Natural Science Foundation Project of Shanghai Science and Technology Innovation Action Plan(China)(No.23ZR1409400)Shanghai Science and Technology Commission of China(No.21DZ2200700).
文摘Microtia,a congenital malformation affecting the external and middle ear,arises from disruptions during the development of embryonic branchial arches and cranial neural crest cells(CNCCs),making it the second most prevalent maxillofacial birth defect and a leading cause of conductive hearing loss.1 Aberrant gene expression is pivotal in microtia pathogenesis by influencing chondrocyte activities.Homeobox(HOX)genes stand out as regulators for proper skeletal patterning,and mutations within the HOX family have been implicated in microtia.2 Our transcriptomic microarray analysis of microtia revealed a substantial reduction in HOXB6 expression in auricle cartilage.
基金Bavarian State Ministry of Health and Care,Grant/Award Number:DMB-1805-0002。
文摘Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis.The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing(RNA-seq)in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence.RNA-seq data can be used to identify aberrantly spliced genes,detect allele-specific expression,and identify gene expression outliers.Amongst eight studies utilizing RNA-seq,a mean diagnostic uplift of 15%has been reported.Here,we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders.
