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Journal of Genetics and Genomics 2020年第12期47卷 770-780页

作者： Tingting Lin Lihua Luo Weiwei Guo Wei Ren Chuanhong Liu Hong Wei Shiming Yang Yong Wang Department of Laboratory Animal Science College of Basic Medical ScienceArmy Medical UniversityChongqing 400038China College of Otolaryngology Head and Neck Surgery Chinese PLA General HospitalBeijing 100853China National Clinical Research Center for Otolaryngologic Diseases Beijing 100853China

SOX10 is a causative gene of waardenburg syndrome(WS)that is a rare genetic disorder characterized by hearing loss and pigment *** than 100 mutations of SOX10 have been found in patients with Type 2 WS(WS2),Type 4 WS(WS4),and more complex ***,no mutation hotspot has been detected in SOX10,and most cases are sporadic,making it difficult to establish a correlation between the high phenotypic and genetic *** this study,a duplication of the 321th cytosine(c.321dupC)was introduced into SOX10 in pigs,which induced premature termination of the translation of SOX10(p.K108QfsX45).The premature stop codon in Exon 3 triggered the degradation of mutant mRNA through nonsense-mediated mRNA ***,SOX10^(c.321dupC) induced a highly similar phenotype of WS2 with heterogeneous inner ear malformation compared with its adjacent missense mutation SOX10^(c.325A>T).In addition,a site-saturation mutation analysis of the SOX10 N-terminal nuclear localization signal(n-NLS),where these two mutations located,revealed the correlation between SOX10 haploinsufficiency and WS by an in vitro reporter *** analysis combining the in vitro assay with clinical cases may provide a clue to clinical diagnoses.

关键词： HMG domain Inner ear malformation SOX10 waardenburg syndrome Pigment disturbance

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Dystrophia canthorum in waardenburg syndrome with a novel MITF mutation

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International Journal of Ophthalmology(English edition) 2020年第7期13卷 1054-1059页

作者： Xia-Jing Tang Xi-Yuan Ping Chen-Qi Luo Xiao-Ning Yu Ye-Lei Tang Xing-Chao Shentu Eye Center of the Second Affiliated Hospital of Zhejiang University School of MedicineHangzhouZhejiang ProvinceChina The Second Affiliated Hospital of Zhejiang University School of MedicineHangzhouZhejiang ProvinceChina

AIM:To reveal a novel MITF gene mutation in waardenburg syndrome(WS),which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes,hair and ***:The genetic analysis of the Chinese family was conducted by whole-exome sequencing,then the results were confirmed by Sanger ***:WS is classified into type I to IV,which are identified by the W index,clinical characteristics and additional *** MITF gene mostly accounts for WS type *** this study,a de novo heterozygous mutation in the MITF gene,c.638 A>G in exon 7,was identified in the patient diagnosed with WS type I features,as the W index was 2.17(over 2.10),with dystrophia canthorum,congenital bilateral profound hearing loss,bilateral heterochromia irides,premature greying of the hair,and excessive freckling on the face at *** also underwent refractive errors and esotropia,reduced pigmentation of the choroid and visible choroid *** mutation was not found in previous studies or mutation ***:The novel mutation in the MITF gene,which altered the protein in amino acids 213 from the glutamic acid to glycine,is the genetic pathological cause for WS features in the *** characteristics of this family revealed a novel genetic heterogeneity of MITF in WS,which expanded the database of MITF mutations and offered a possible in correcting the W index value of WS in distinct ***,ocular symptoms should be emphasized in all types of WS patients.

关键词： waardenburg syndrome gene MITF dystrophia canthorum whole-exome sequencing

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STUDIES ON PATHOGENESIS OF waardenburg syndrome TYPE Ⅱ AND TIETZ syndrome RESULTING FROM MITF GENE MUTATIONS

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Journal of Otology 2013年第2期8卷 97-103页

作者： ZHANG Hua LI Jiada LUO Hunjin CHEN Hongsheng MEI Lingyun HE Chufeng JIANG Lu FENG Yong Department of Otolaryngology First Affiliated HospitalXinjiang Medical University State Key Laboratory of Medical Genetics Central South University Department of Otolaryngology Xiangya Hospital Central South University

Microphthalmia-associated transcription factor (MITF) controls melanocyte survival and differentiation through directly regulating the expression of the tyrosinase (TYR) and tyrosinase-related proteins 1 and 2 (TYRP1 and TYRP2) genes. MITF mutations have been reported to result in an abnormal melanocyte devel-opment and lead to waardenburg syndrome type 2 (WS2), characterized by variable degrees of sensorineu-ral hearing loss and patchy regional distribution of hypopigmentation. Recently, MITF was also indicated as a causative gene for a more severe syndrome, the Tietz syndrome (TS), characterized by generalized hy-popigmentation and complete hearing loss. However, few functional studies have been performed to com-pare the diseases-causing mutations. Here, we analyzed the in vitro activity of two recent identified WS2-as-sociated mutation (p.R217I and p.T192fsX18) and one TS-associated mutation p.N210K. The R217I MITF retained partial activity, normal DNA-binding ability and nuclear distribution, whereas the T192fsX18 MITF failed to activate TYR promoter due to loss of DNA-binding activity, and aberrant subcellular localization. The aberrant subcellular localization of T192fsX18 MITF may be caused by deletion of a putative nuclear localization signal (NLS) at aa 213-218 (ERRRRF). Indeed, MITF with deletion of the NLS fragment failed to translocate into the nucleus and activated the TYR promoter. Tagging this NLS to GFP promoted the green fluorescence protein (GFP) translocated into the nucleus. The surprising finding of our study is that a TS-as-sociated MITF mutation, N210K, showed comparable in vitro activity as WT. Thus, the possible involve-ment of MITF in TS and its underlying mechanisms still need further investigation.

关键词： waardenburg syndrome Teitz syndrome MITF mutation haploinsufficiency

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Cochlear implants in genetic deafness

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Journal of Otology 2014年第4期9卷 156-162页

作者： Xuezhong Liu Department of Otolaryngology University of Miami Miller School of Medicine

Genetic defects are one of the most important etiologies of severe to profound sensorineural hearing loss and play an important role in determining cochlear implantation *** the pathogenic mutation types of a number of deafness genes have been cloned,the pathogenesis mechanisms and their relationship to the outcomes of cochlear implantation remain a hot research *** auditory performance is considered to be affected by the etiology of hearing loss and the number of surviving spiral ganglion cells,as well as *** research advances in cochlear implantation for hereditary deafness,especially the relationship among clinic-types,genotypes and outcomes of cochlear implantation,will be discussed in this review.

关键词： Connexin Cx26/Cx30 Usher syndrome Mitochondria genes waardenburg syndrome Auditory neuropathy

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Hereditary sensorineural hearing loss in Chinese Rongchang pigs result from promoter mutations in MITF

Hereditary sensorineural hearing loss in Chinese Rongchang p...

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第七届中国畜牧科技论坛

作者： Chen lei Guo weiwei Zhang tinghuan Zhu dan Jing lan Chen siqing Bai xiaoqing Zhang fengming Wang tao Ge liangpeng Liu zuohua Yang shiming Li ning Wang jingyong Key Laboratory of Pig Industry Sciences(Ministry of Agriculture) Chongqing Academy of Animal Science Department of Otolaryngology Head &Neck SurgeryInstitute of OtolaryngologyChinese PLA General Hospital State Key Laboratory for Agrobiotechnology College of Biological SciencesNational Engineering Laboratory for Animal BreedingChina Agricultural University

(Background) Genesis of novel gene regulatorymodules is largely responsible formorphological and functional *** active cisz-regulatory elements(CREs) can arise from transposition,promoter switching,co-option or de novo ***,the last model,de novo genesis of CREs could be a rare event in genome evolution,due to the odds of creating totally novel CREs aremuch lower than that of altering existing *** is only reported by a sole case in ***,genetic variation drives either new genesis of CREs or phenotypic alteration has not been ***:Here,we took advantage of a spontaneous hearing loss model found in pigs,and studied the mutation in a non-regulatory region of the melanocyte-specific promoter of microphthalmia-associated transcription factor(MITF) *** mutation generated a novel silencer and eliminated expression of *** consequently caused the early degeneration of intermediate cells of the cochlear stria vascularis and profound hearing loss,similar to the typical phenotype of waardenburgsyndrome in *** found that the mutation exclusively affected MITF-M,not other *** essential function of Mitf-m in hearing development was further validated using a knock-out mouse ***:These results demonstrated that dysfunction in the MITF-M isoform alone was sufficient to cause deafness and *** our knowledge,this study provides the first evidence of a systemic functional de novo CRE in mammals.

关键词： de novo silencer MITF-M hearing loss waardenburg syndrome cisregulatory element pig

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Hereditary sensorineural hearing loss in Chiese Rongchang pigs result from promoter mutations in MITF

Hereditary sensorineural hearing loss in Chiese Rongchang pi...

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第七届中国畜牧科技论坛

作者： Chen lei Guo weiwei Zhang tinghuan Zhu dan Jing lan Chen siqing Bai xiaoqing Zhang fengming Wang tao Ge liangpeng Liu zuohua Yang shiming Li ning Wang jingyong Key Laboratory of Pig Industry Sciences(Ministry of Agriculture) Chongqing Academy of Animal Science Department of Otolaryngology Head & Neck SurgeryInstitute of OtolaryngologyChinese PLA General Hospital State Key Laboratory for Agrobiotechnology College of Biological SciencesNational Engineering Laboratory for Animal BreedingChina Agricultural University

(Background) Genesis of novel gene regulatorymodules is largely responsible formorphological and functional *** active c/.s-regulatory elements(CREs) can arise from transposition,promoter switching,co-option or de novo ***,the last model,de novo genesis of CREs could be a rare event in genome evolution,due to the odds of creating totally novel CREs aremuch lower than that of altering existing *** is only reported by a sole case in ***,genetic variation drives either new genesis of CREs or phenotypic alteration has not been reported.(Results) Here,we took advantage of a spontaneous hearing loss model found in pigs,and studied the mutation in a non-regulatory region of the melanocyte-specific promoter of microphthalmia-associated transcription factor(MITF) *** mutation generated a novel silencer and eliminated expression of *** consequently caused the early degeneration of intermediate cells of the cochlear stria vascularis and profound hearing loss,similar to the typical phenotype of waardenburgsyndrome in *** found that the mutation exclusively affected MITF-M,not other *** essential function of Mitf-m in hearing development was further validated using a knock-out mouse model.(Conclusions) These results demonstrated that dysfunction in the MITF-M isoform alone was sufficient to cause deafness and *** our knowledge,this study provides the first evidence of a systemic functional de novo CRE in mammals.

关键词： de novo silencer MITF-M hearing loss waardenburg syndrome cis-regulatory element pig

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2例2型waardenburg综合征基因检测并文献复习

2例2型Waardenburg综合征基因检测并文献复习

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作者：陈志伟福建医科大学

学位级别：硕士

目的耳聋是引起人类交流障碍最常见的疾病,而大部分的耳聋,由遗传引起的占了相当大的一部分。这里涉及的耳聋基因在正常听力人群同样携带,不同的携带者结合而来的子代就有了耳聋发病的风险。在国内外,随着对耳聋基因的探索、发现、研究... 详细信息

目的耳聋是引起人类交流障碍最常见的疾病,而大部分的耳聋,由遗传引起的占了相当大的一部分。这里涉及的耳聋基因在正常听力人群同样携带,不同的携带者结合而来的子代就有了耳聋发病的风险。在国内外,随着对耳聋基因的探索、发现、研究,使越来越多的致聋基因被临床医生所了解。本课题收集临床相对少见的2例2型waardenburg syndrome(WS)先证者血样并检测相关的基因证实目前已知基因上是否有突变位点及对该疾病的文献复习。方法收集厦门聋校2位确诊WS的患者血样,分别编号为:XJ008、XJ012。对其做听力检查,知情同意下收集两者的外周静脉血液样本,当日飞航送北京301医院耳研所,后续提取基因组DNA,PCR扩增后进行样本测序。因患者已有的症状、体征符合WS2型诊断标准,故仅对该2位患者进行目前国内外已知的引起WS2型的基因片段进行基因片段测序,结果利用GENE TOOL软件排查引起该病的突变位点,进行基因突变证实,如若突变位点不在目前已知国内外检测的突变位点上,则将后续进一步研究是否有新发的突变,进而丰富该领域的基因库。结果因结合WS诊断标准,2位经采外周血液标本的患者考虑基因分型2型,结合国内外目前基因检测结果文献报道,EDN3与EDNRB基因上的突变主要发生在4型WS,故仅对2位患者进行PAX3、SOX10、MITF、SNAI2基因的测序。经相关测序公司送检回来的报告结果经专业人员结合GENE TOOl软件分析,在上述4个检测的基因片段测序未发现有关的基因位点突变。结论:1基因检测的2例WS综合征患者属于上述检测阳性率以外的区间,可能是一种正常现象。2目前的检测技术局限无法探及突变点。3是否有其他引起WS2型的基因座?4大量耳聋患者的致病因素仍不明确,遗传性耳聋的致病基因数据库仍需完善。

关键词：遗传性耳聋 waardenburg syndrome 基因

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