Journal of Bio-X Research最新文献_第7页

Estrogen enhances female small intestine epithelial organoid regeneration 雌激素促进雌性小肠上皮类器官再生

Journal of Bio-X Research Pub Date : 2019-03-01 DOI: 10.1097/JBR.0000000000000029

Greg S. Lee, Alexander S. Cody, Kent C. Johnson, Helong Zhao, S. Odelberg, Dean Y Li, Weiquan Zhu

引用次数: 2

Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome 综合面部分析和靶向测序鉴定出一种导致歌舞伎综合征的新型KDM6A致病变异

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000022

Weihui Shi, Yiyao Chen, Songchang Chen, Shuyuan Li, Chunxin Chang, Lanlan Zhang, Hongjun Fei, He-feng Huang, Jun-Yu Zhang, Chenming Xu

{"title":"Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome","authors":"Weihui Shi, Yiyao Chen, Songchang Chen, Shuyuan Li, Chunxin Chang, Lanlan Zhang, Hongjun Fei, He-feng Huang, Jun-Yu Zhang, Chenming Xu","doi":"10.1097/JBR.0000000000000022","DOIUrl":"https://doi.org/10.1097/JBR.0000000000000022","url":null,"abstract":"Abstract Kabuki syndrome (KS) is a rare congenital mental retardation condition characterized by facial dysmorphia, visceral and skeletal malformations, and developmental delay. The integrated phenotype and genotype-based prioritization is critical for diagnoses of genetic diseases. In this study, a Chinese woman, presenting with characteristic facial features of KS, came for pre-pregnancy consultation. We aimed to clarify the diagnosis and provide pre-pregnancy genetic counseling. Facial dysmorphology analysis and next-generation sequencing-based multigene panel approach were used to identify candidate syndromes and causative variants, respectively. The candidate variant was verified by Sanger sequencing. We identified a novel de novo KDM6A pathogenic variant (c.3521G>A) in the woman, which was in line with the Face2Gene analysis result. Peripheral blood RNA assay showed that the variant transcript underwent the nonsense-mediated mRNA decay and led to subsequent haploinsufficiency of KDM6A. Our study provides the genetic diagnosis method for KS type 2 and identifies the first KDM6A point variant in Chinese patient.","PeriodicalId":150904,"journal":{"name":"Journal of Bio-X Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114242126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Reproductive medicine and congenital heart disease 生殖医学和先天性心脏病

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000019

Wei Sheng, Guoying Huang

引用次数: 1

Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic probands with presumptive retinitis pigmentosa 全外显子组测序鉴定了中国95例散发性色素性视网膜炎先显子的多个基因突变

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000021

Lulin Huang, Jialiang Yang, Shiyao Xu, Yao Mao, Dean-Yao Lee, Jiyun Yang, Chao Qu, Yang Li, Zhenglin Yang

{"title":"Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic probands with presumptive retinitis pigmentosa","authors":"Lulin Huang, Jialiang Yang, Shiyao Xu, Yao Mao, Dean-Yao Lee, Jiyun Yang, Chao Qu, Yang Li, Zhenglin Yang","doi":"10.1097/JBR.0000000000000021","DOIUrl":"https://doi.org/10.1097/JBR.0000000000000021","url":null,"abstract":"Abstract Retinitis pigmentosa (RP), a major cause of inherited blindness worldwide, is highly heterogeneous. This study aimed to identify mutations in a Chinese cohort of sporadic probands with presumptive RP. Whole exome sequencing represents a considerable advancement in the identification of mutations associated with Mendelian diseases, such as RP. In this study, whole exome sequencing analysis was performed in a Chinese cohort of 95 sporadic probands who were initially diagnosed with RP, in order to identify disease mutations. All detected variations were confirmed by direct Sanger sequencing, and potential pathogenicity was assessed by predictions of the mutations’ functions. The overall mutation rate of presumptive RP genes for this cohort was 30.5% (n = 29 of 95 probands). Forty-four mutations were identified in 19 RP genes, among which 40 mutations were novel. Eleven probands carried mutations in autosomal dominant genes (38.0%), 16 probands carried mutations in autosomal recessive genes (55.2%), and 2 probands carried mutations in X-linked genes (6.9%). Twenty-eight mutations in 18 genes linked to other retinal diseases in 23 probands were also identified. Overall, mutations were detected in 52 probands (54.7%). The recurrent and novel mutations reported here will expand potential understanding of the pathogenesis of RP and other retinal diseases.","PeriodicalId":150904,"journal":{"name":"Journal of Bio-X Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130356806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Pharmacogenetic study of Asn680Ser and -29A>G in FSHR gene in Chinese women undergoing controlled ovarian hyperstimulation 中国控制性卵巢过度刺激女性FSHR基因Asn680Ser和-29A>G的药理学研究

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000018

Xiaohe Sun, T. Ni, Guangyu Li, Jingjing Jiang, Junhao Yan, Zi-jiang Chen

{"title":"Pharmacogenetic study of Asn680Ser and -29A>G in FSHR gene in Chinese women undergoing controlled ovarian hyperstimulation","authors":"Xiaohe Sun, T. Ni, Guangyu Li, Jingjing Jiang, Junhao Yan, Zi-jiang Chen","doi":"10.1097/JBR.0000000000000018","DOIUrl":"https://doi.org/10.1097/JBR.0000000000000018","url":null,"abstract":"Abstract The outcome of controlled ovarian hyperstimulation (COH) is various and unpredictable. According to previous studies, 2 single nucleotide polymorphisms, Asn680Ser and -29A/G, have a pharmacogenetic association with ovarian response to COH. However, studies on the Asn680Ser polymorphism have yielded inconsistent conclusions and only a few studies with small sample sizes have been performed on -29A/G. The association of these 2 polymorphisms with ovarian response remains unclear. The present study evaluated the association of Asn680Ser and -29A/G genotypes with COH. A total of 414 Chinese women undergoing in vitro fertilization-embryo transfer were included. Genotypes for these single nucleotide polymorphisms were identified by high-resolution melting-curve analysis. The value of exogenous follicle-stimulating hormone dosage per oocyte divided by the body surface area (Dosage/Oocyte × Surface) was calculated for each patient as an indicator of ovarian response. The results of statistical analyses showed no association between Asn680Ser genotype and ovarian response. As for -29A/G, heterozygote individuals had more oocytes retrieved (P = 0.034). Combinatorial analysis of these 2 single nucleotide polymorphisms showed that genotype A/G-Asn/Asn had lower basal-follicle-stimulating hormone and more oocytes retrieved. Analysis of genotype association with ovarian response also revealed this genotype had a significantly higher risk of developing hyper response (OR = 7.86; 95% CI: 1.31–9.43). To some extent, there were associations between the studied polymorphisms and ovarian response; however, the power of this link is weak and has limited value for clinical prediction.","PeriodicalId":150904,"journal":{"name":"Journal of Bio-X Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128374160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Epigenetic effects of male obesity on sperm and offspring 男性肥胖对精子和后代的表观遗传影响

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000023

Yin Zhou, Haiyan Wu, He-feng Huang

引用次数: 2

Physiological roles of activins in the human ovary 激活素在人卵巢中的生理作用

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000016

Hsun‐Ming Chang, P. Leung

{"title":"Physiological roles of activins in the human ovary","authors":"Hsun‐Ming Chang, P. Leung","doi":"10.1097/JBR.0000000000000016","DOIUrl":"https://doi.org/10.1097/JBR.0000000000000016","url":null,"abstract":"Abstract Initially discovered in the pituitary as stimulators of follicle stimulating hormone, activins are homo- or heterodimers of inhibin subunits, which belong to the transforming growth factor-&bgr; superfamily. Subsequent studies have demonstrated that these growth factors play multifaceted roles in regulating various functions in multiple organs, including the ovary. The spatial and temporal expression of inhibin subunits (&agr;, &bgr;A, &bgr;B, and &bgr;C), their cognate receptors, and activin-binding proteins (inhibins and follistatins) in the principal cells of growing follicles in human ovaries indicates that these activin isoforms are involved in ovarian biology. Information collected from animal studies and clinical samples suggests that these locally produced growth factors are crucial modulators of various ovarian functions, including primordial germ cell development, follicular growth and development, ovarian steroidogenesis, extracellular matrix remodeling, oocyte maturation, ovulation, and luteal function. Along with gonadotropins, intrafollicular activins exert synergistic and complementary effects on growing follicles to help them develop a mature, competent oocyte that is prepared for fertilization. Abnormal activin expression, an imbalanced activin/follistatin ratio, and the dysregulation of the activin signaling pathway have been observed in several ovarian pathologies, such as reproductive aging, polycystic ovary syndrome, and ovarian cancers. Recent advancements in our understanding of the molecular interactions and mechanisms that underlie activins and the development of related ovarian abnormalities have provided insights into disease pathogenesis and increased opportunities to achieve efficient and safe therapies.","PeriodicalId":150904,"journal":{"name":"Journal of Bio-X Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121179688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Effect of orlistat on obese women with polycystic ovary syndrome 奥利司他对肥胖女性多囊卵巢综合征的影响

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000017

Qi Jiang, Yuhua Shi

引用次数: 0

Perinatal outcome and postnatal health in children born from cryopreserved embryos 冷冻胚胎出生儿童的围产期结局和产后健康

Journal of Bio-X Research Pub Date : 2018-12-01 DOI: 10.1097/JBR.0000000000000020

Shiqin Zhu, L. Cui, Zi-jiang Chen

{"title":"Perinatal outcome and postnatal health in children born from cryopreserved embryos","authors":"Shiqin Zhu, L. Cui, Zi-jiang Chen","doi":"10.1097/JBR.0000000000000020","DOIUrl":"https://doi.org/10.1097/JBR.0000000000000020","url":null,"abstract":"Abstract Frozen-thawed embryo transfer (FET) has been increasingly adopted as an adjunct to in vitro fertilization or intracytoplasmic sperm injection in recent years. It can reduce the risks of ovarian hyperstimulation syndrome and multiple pregnancies, and may even improve pregnancy outcomes in some subgroups such as patients with polycystic ovary syndrome. However, embryo cryopreservation may cause DNA damage, epigenetic changes, and alterations to gene expression profiles, and the potential impacts of cryopreservation on the embryos and on the long-term health of the resulting offspring are receiving increasing attention. Here, we aim to summarize the impact of cryopreservation on the embryos, perinatal outcomes, and long-term health of the offspring, hoping to explore the potential mechanisms and help guide the next steps in designing clinical studies. In this review, we found that there was no apparent difference in most perinatal outcomes between neonates born following FET and fresh embryo transfer, except for higher risks of large-for-gestational age and macrosomia in FET neonates. Studies on the long-term health and development of FET children are currently lacking; however, the limited evidence so far has found no risk of growth retardation, or chronic or malignant diseases. Large, well-designed, prospective studies taking full consideration of the confounding factors, including parental information, lifestyle, and environmental factors, are needed to confirm these conclusions.","PeriodicalId":150904,"journal":{"name":"Journal of Bio-X Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133878697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of the Notch signaling pathway in liver injury and repair Notch信号通路在肝损伤和修复中的作用

Journal of Bio-X Research Pub Date : 2018-09-01 DOI: 10.1097/JBR.0000000000000014

Zhen Yue, B. Ruan, Juanli Duan, Hua Han, Lin Wang

引用次数: 2