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Transcription factors dysregulated in three complex birth defects datasets

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Reproductive and Developmental Medicine 2022年第2期6卷 79-85页

作者： Zhong-Zhong Chen Yun-Qian Gao Hua Xie Yi-Chen Huang Fang Chen Yun-Ping Lei Department of Urology Shanghai Children’s HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200062China Pediatric Translational Medicine Institute Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghai 200127China Department of Laboratory Medicine Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghai 200127China Department of Urology Shanghai Jiao Tong University Affiliated Sixth People’s HospitalShanghai 200233 China Shanghai Eastern Urological Reconstruction and Repair InstituteShanghai 200233China Center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHoustonTX 77030USA

Objective::To investigate the roles of transcription factors (TFs) in the etiology of complex human birth defects, including neural tube defects (NTDs), congenital heart diseases (CHDs), and hypospadias.Methods::We examined the overlap of genetically associated genes among NTDs, CHDs, and hypospadias. We then compared the expression profiles of these diseases based on all the detected genes and disease-associated TFs. The differentially expressed TFs that we obtained were further subjected to functional enrichment analysis to elucidate their role in the development of these birth defects.Results::TF genes were significantly enriched in complex birth defects ( P= 5.95 × 10^(-24)). NTDs, CHDs, and hypospadias showed distinct gene expression profiles compared with the controls. Although TFs could not efficiently separate CHDs from normal subjects, distinct gene expression profiles of TFs could distinguish NTDs and hypospadias from controls. Differentially expressed TFs can be used to characterize NTDs, hypospadias, and controls. The enriched TFs in biological processes (BPs) reflected the different morphological processes of NTDs, CHDs, and hypospadias. Conclusions::This study indicates that abnormal expression patterns of specific TFs may disrupt the normal requirements for developmental equilibrium through the related BPs. The investigation of genetically associated genes and gene expression profiles for the three different complex birth defects provides new insights into how the dysregulation of TFs influences their developmental process.

关键词： Birth defects Congenital heart disease Hypospadias neural tube defect Transcription factor

Cilia and their role in neural tube development and defects

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Reproductive and Developmental Medicine 2022年第2期6卷 67-78页

作者： Lu Yan Yu-Fang Zheng Obstetrics and Gynecology Hospital of Fudan University Shanghai 200011China Deptartment of Cellular and Developmental Biology School of Life SciencesFudan UniversityShanghai 200438China

Cilia are microtubule-based filamentous organelles that play a vital role in embryogenesis. Multiple signal transduction pathways are orchestrated by cilia, such as Hedgehog and planar cell polarity signals. Various studies, spanning over last 2 decades, have emphasized the role of cilia-mediated signaling cascades in regulating neural tube patterning and development. Moreover, the deficiency of certain ciliary genes have been reported to cause neural tube defects (NTDs), which are a set of disorders that occur due to perturbation of normal neural tube closure. However, the mechanisms underlying cilia dysfunction resulting NTDs remain unclear. Recent studies have highlighted the association of phosphoinositide signaling with cilia, thereby conferring novel insights into the function of cilia during neural tube development. Here, we have reviewed recent studies on cilia, focusing on the molecular mechanism underlying the involvement of cilia in neural tube development and the role of ciliary disruption in the development of NTDs.

关键词： Cilia Sonic hedgehog Phosphoinositide Intra-flagellar transport neural tube defect

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis

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Journal of Genetics and Genomics 2011年第8期38卷 333-339页

作者： Yue Xiao Lingling Zhang Kuanjun He Xiang Gao Lun Yang Lin He Gang Ma Xizhi Guo Bio-X Center Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders Shanghai Jiao Tong University Shanghai 200240 China Medical School of Nanjing University Model Animal Research Center Nanjing 210093 China These authors contr-ibuted equally to this paper.

N-ethyl-N-nitrosourea （ENU） mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as SpxG. Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the SpxG was confined to a region between DIMIT415 and DIMIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that SpxG carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain （HD） DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired the transactivation capacity of Pax3 protein, but exerted no effect on Pax3 protein translation. The characterization of the new mutation expanded our understanding the transactivation and DNA-binding structure of Pax3 protein.

关键词： White spotting neural tube defect ENU Pax3 Transactivation

Brain stem global gene expression profiles in human spina bifida embryos

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neural Regeneration Research 2011年第5期6卷 366-372页

作者： Hong Zhao Xiang Li Wan-I Li Quanren He Ting Zhang Xiaoying Zheng Ran Zhou JunXie Department of Biochemistry and Molecular Biology Ministry of Education Key Laboratory of Cellular Physiology Shanxi Medical University Taiyuan 030001 Shanxi Province China Department of Physiology and Pharmacology University of Georgia Georgia 361004 USA Capital Institute of Pediatrics Beijing 100020 China Institute of Population Research Peking University Beijing 100732 China Shanxi Traditional Medical College Taiyuan 030024 Shanxi Province China

Environmental and genetic factors influence the occurrence of neural tube defects, such as spina bifida. Specific disease expression patterns will help to elucidate the pathogenesis of disease. However, results obtained from animal models, which often exhibit organism specificity, do not fully explain the mechanisms of human spina bifida onset. In the present study, three embryos with a gestational age of approximately 17 weeks and a confirmed diagnosis of spina bifida, as well as 3 age-matched normal embryos, were obtained from abortions. Fetal brain stem tissues were dissected for RNA isolation, and microarray analyses were conducted to examine profiles of gene expression in brain stems of spina bifida and normal embryos using Affymetrix HG-U133A 2.0 GeneChip arrays. Of the 14 500 gene transcripts examined, a total of 182 genes exhibited at least 2.5-fold change in expression, including 140 upregulated and 42 downregulated genes. These genes were placed into 19 main functional categories according to the Gene Ontology Consortium database for biological functions. Of the 182 altered genes, approximately 50% were involved in cellular apoptosis, growth, adhesion, cell cycle, stress, DNA replication and repair, signal transduction, nervous system development, oxidoreduction, immune responses, and regulation of gene transcription. Gene expression in multiple biological pathways was altered in the brain stem of human spina bifida embryos.

关键词： apoptosis GeneChip gene expression neural tube defect spina bifida

An Overview of Spina Bifida

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Open Journal of Orthopedics 2023年第10期13卷 443-456页

作者： Afroza Parvin Md Mahmudul Hasan Department of Biochemistry and Molecular Biology Jahangirnagar University Dhaka Bangladesh

A child born with untreatable birth defect encounters constant challenges in lifetime. Spina bifida is such type of defect mainly affecting neural tube. As a result, a child with spina bifida faces abnormal physical appearance to neurological dysfunctions. The incident rate of such birth defect is relatively common compared to other birth defects, therefore, an awareness among people is necessary to avoid such vulnerability. Therefore, this article provides a general outline of symptoms, types, risk factors, pathophysiology, preventive and therapeutic strategies of spina bifida which will help the general people for better understanding of the disease and be able to take precautions to combat such defect.

关键词： Birth defect neural tube defect Myelomeningocele Folic Acid Alpha-Fetoprotein

用原位缺日翻译法比较两种细胞死亡的DNA状态

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解剖学报 1994年第2期 207-207页

作者：牛建昭小路武彦中根一穗北京中医药大学组织学胚胎学教研室

用原位缺日翻译法比较两种细胞死亡的ＤＮＡ状态（北京中医药大学组织学胚胎学教研室．北京１０００２９牛建昭，小路武彦，中根一穗）ＤＮＡ断裂存在于不同细胞周期中（增殖、分化、死亡）。为研究不同组织细胞核内ＤＮＡ链切断（ＤＳ... 详细信息

用原位缺日翻译法比较两种细胞死亡的ＤＮＡ状态（北京中医药大学组织学胚胎学教研室．北京１０００２９牛建昭，小路武彦，中根一穗）ＤＮＡ断裂存在于不同细胞周期中（增殖、分化、死亡）。为研究不同组织细胞核内ＤＮＡ链切断（ＤＳＢ），我们采用了缺口翻译法（ＩＮＴ...

关键词： Fibronectin Laminin neural tube defect Retinoic acid Immunohistochemistry Hamster