检索结果-南通市图书馆

Isobaric tags for relative and absolute quantitation-based quantitative proteomic analysis of x-linked inhibitor of apoptosis and H2Ax in etoposide-induced renal cell carcinoma apoptosis

引用

Chinese Medical Journal 2019年第24期132卷 2941-2949页

作者： Tian-Shu Liu Chao Chen Biao Zhou Bo-Wen xia Zong-Ping Chen Yong Yan Department of Urology Beijing Shijitan HospitalCapital Medical UniversityBeijing 100038China Department of Vascular Surgery People's Hospital of Peking UniversityBeijing 100044China Department of Urology The Affiliated Hospital of Zunyi Medical CollegeZunyiGuizhou 563000China

Background:x-linked inhibitor of apoptosis(xIAP)is a vital factor in the anti-apoptosis mechanism of tumors and is highly expressed in renal cell carcinoma(RCC).However,the mechanism through which xIAP regulates DNA damage repair is *** study investigated the regulatory mechanism of xIAP in etoposide-induced apoptosis in two Caki-1 cell lines with high or low xIAP ***:The two cell lines were established using RNA interference *** differentially expressed proteins in the two cell lines were globally analyzed through an isobaric tags for relative and absolute quantitation-based quantitative proteomics *** analysis revealed 255,375,362,and 5 differentially expressed proteins after 0,0.5,3,and 12 h of drug stimulation,respectively,between the two cell *** identified differentially expressed proteins were involved in numerous biological *** addition,the expression of histone proteins(H1.4,H2Ax,H3.1,H3.2,and H3.3)was drastically altered,and the effects of xIAP silencing were accompanied by the marked downregulation of ***-protein interactions were assessed and confirmed through immunofluorescence and Western blot ***:The results suggested that xIAP may act as a vital cell signal regulator that regulates the expression of DNA repair-related proteins,such as H2Ax,and influences the DNA repair ***:Given these functions,xIAP may be the decisive factor in determining the sensitivity of RCC cell apoptosis induction in response to chemotherapeutic agents.

关键词： Apoptosis H2Ax iTRAQ Renal cell carcinoma x-linked inhibitor of apoptosis

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese x-linked Recessive Family

引用

Chinese Medical Journal 2017年第1期130卷 88-92页

作者： Wan Du Ming-Kun Han Da-Yong Wang Bing Han Liang Zong Lan Lan Ju Yang Qi Shen Lin-Yi xie Lan Yu Jing Guan Qiu-Ju Wang Department of Otolaryngology Head and Neck Surgery Institute of Otolaryngology Chinese People's Liberation Army General Hospital Beijing 100853 China

Background： The molecular genetic research showed the association between x-linked bearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic x-linked recessive hearing loss family. Methods： A series of clinical evaluations including medical history, otologic examinations, l：amily history, audiologic testing, and a high-resolution computed tomography scan were performed t＇or each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products or＇the samples. Moreover, 834 controls with normal hearing were also tested. Results： The pedigree showed x-linkage recessive inheritance pattern, and pathogenic mutation （c.499C〉T） was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with bearing loss in this family. No mutation ofPOU3F4 gene was found in 834 controls. Conclusions： A nonsense mutation is identified in a family displaying the pedigree consistent with x-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.

关键词： c.499C〉T Nonsyndromic Hearing Loss POU3F4 x-linked

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

CNKSR2 mutation causes the x-linked epilepsy-aphasia syndrome:A case report and review of literature

引用

World Journal of Clinical Cases 2018年第12期6卷 570-576页

作者： Ying Sun Yi-Dan Liu Zhi-Feng xu Qing-xia Kong Yan-Ling Wang Cheeloo College of Medicine Shandong University First Hospital of Handan Department of Neurology Affiliated Hospital of Jining Medical University

The mutation in CNKSR2 leads to a broad spectrum of phenotypic variability and manifests as an x-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disability but also epileptic seizures. In addition, there were progressive language impairment, attention deficit hype-ractivity disorder and autism. Electroencephalograms showed continuous spike-and-wave during sleep. Genetic testing revealed a de novo mutation of the CNKSR2 gene(c.2185C >T, ***729Ter) in the child that was not detected in the parents. Therefore, the child was diagnosed with x-linked epilepsy aphasia syndrome. Deletion of the CNKSR2 gene has been rarely reported in epilepsy aphasia syndrome, but no de novo mutation has been found in this gene. This report not only adds to the spectrum of epilepsy aphasia syndrome but also helps clinicians in diagnosis and genetic counseling.

关键词： Epilepsy Language impairment Mental retardation De novo mutation of CNKSR2 x-linked epilepsy-aphasia syndrome

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Immunofluorescence study of type Ⅳ collagen α chains in epidermal base-ment membrane : application in diagnosis of x-linked Alport syndrome

引用

Chinese Medical Journal 1997年第8期 8-10页

作者：丁洁杨霁云刘景城俞礼霞

Objective To detect the distribution of α5(Ⅳ) chain of collagen on the glomerular basement membrane (GBM) and epidermal basement membrane (EBM) in the Chinese Alport syndrome (AS) kindreds and to develop a simple diagnostic alternative method to electronic microscopy for diagnosis of AS. Methods Four male patients from 4 unrelated families manifested with hematuria, sensorineural hearing loss and had distinct family history. All patients had the characteristic AS pathologic changes by electron microscopy on their renal biopsy tissues. Three normal skin samples and 2 normal kidney samples were used as normal controls. Monoclonal antibody based IF test was performed to examine the α5(Ⅳ)NC1 domain in EBM of normal controls, x linked AS patients and their parents, and in GBM of normal controls and AS patients. Results In normal controls as well as the patients' fathers, all the monoclonal antibodies used in EBM and GBM staining showed positive reactions along basement membranes in a linear pattern. Characteristically, in AS patients there were negative reactions to monoclonal antibodies anti α5(Ⅳ)NC1 domain in EBM and anti α3 5(Ⅳ)NC1 domains in GBM. In patients' mothers, α5(Ⅳ) chain was distributed segmentally in EBM. Conclusion The staining of α5(Ⅳ) NC1 domain in EBM by IF can be used to diagnose patients and screen defect gene carriers of x linked AS.

关键词： epidermal collagen x-linked syndrome base-ment membrane Alport

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

x-linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in xq27.1

引用

Open Journal of Genetics 2014年第6期4卷 415-425页

作者： David J. Bunyan David O. Robinson Anthony G. Tyers Shuwen Huang Vivienne K. Maloney Francis H. Grand Sarah Ennis Samantha R. de Silva John A. Crolla Tristan F. W. McMullan Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury UK Human Genetics Division Southampton University School of Medicine Southampton UK Ophthalmology Department Salisbury District Hospital Salisbury UK Manchester Centre for Genomic Medicine Saint Mary’s Hospital Manchester UK Genetic Epidemiology and Genomic Informatics Group Faculty of Medicine University of SouthamptonSouthampton UK Oxford Eye Hospital John Radcliffe Hospital Oxford UK Ophthalmology Department Northampton General Hospital Northampton UK

Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previously we have carried out linkage analysis on a family with dominantly inherited congenital bilateral isolated ptosis and found the condition to be linked to a region of approximately 20 megabases of chromosome xq24-xq27.1 with a cumulative LOD score of 5.89. We now describe further analysis using array comparative genomic hybridisation (array CGH), fluorescence in situ hybridisation (FISH), long range PCR and sequencing. This has enabled us to identify and characterise at the level of DNA sequence an insertional duplication and rearrangement involving chromosomes 1p21.3 and a small quasipalindromic sequence in xq27.1, disruption of which has been associated with other phenotypes but which is cosegregating with x-linked congenital bilateral isolated ptosis in this family. This work highlights the significance of the small quasipalindromic sequence in genomic rearrangements involving xq27.1 and the importance of comprehensive molecular and molecular cytogenetic investigations to fully characterise genomic structural complexity.

关键词： Ptosis x-linked Dominant Insertional Duplication

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Non-syndromic x-linked deafness(DFN2)is caused by decreased functional mutations in PRPS1

Non-syndromic X-linked deafness(DFN2)is caused by decreased ...

引用

第八次全国医学遗传学学术会议(中华医学会2009年医学...

作者： YUAN Hui-Jun,LIU xue- Zhong~*,LI Jian-Zhong,HAN Bing,CHENG Jing,WANG You-Qin~(**),CHEN Jing,LIU Yuqing~(**),DAI Pu,HAN Dong-Yi Institute Of Otolaryngology,Chinese PLA General Hospital,Beijing 100853,China * Department of Otolaryngology,University of Miami, Miami,FL 33136,USA * * Hearing Center,Guizhou Provincial People’s Hospital,GuiYang 550002,China

Hereditary nonsyndromic hearing loss(NSHL)is extremely *** the past decade,remarkable progress has been made towards determining the deafness-causing *** date,over 110 loci have been mapped for NSHL,and 47 deafness genes from these loci have been *** vast majority of cases of NSHL are associated with mutations in autosomal *** deafness is clinically and genetically a heterogeneous disorder accounting for about 5%of all congenital deafness,and for less than 2%of non-syndromic hearing *** first deafness-causing gene,POU3F4,was identified in a family with x-linked non-syndromic hearing loss in *** seven non-syndromic deafness loci(DFN2-8)have been mapped to the x chromosome over the last 15 years,the second x-linked deafness gene has not yet been *** DFN2 locus was mapped to xq13-q24 and previously defined by three different *** age at detection of the hearing loss in affected males in these families varied from birth to 20 years of age,indicating that DFN2 can cause either congenital or post-lingual *** the present study,we ascertained a five generation Chinese family characterized by x-linked postlingual,progressive,non-syndromic sensorineural hereditary hearing impairment. We mapped the disease locus to a 5.4 cM region on xq22 between DxS8020 and DxS8055 overlapping with the known DFN2 *** in the phosphoribosyl pyrophosphate synthetase 1(PRPS1)gene were found in all identified DFN2 families, demonstrating that PRPS1 is likely the gene responsible for DFN2 deafness.

关键词： DFN2 x-linked hearing impairment PRPS1 mutation

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

A Novel Bruton’s Tyrosine Kinase Mutation in Russian Patient with x-linked Agammaglobulinemia

引用

Case Reports in Clinical Medicine 2017年第10期6卷 241-249页

作者： S. Deryabina I. Tuzankina E. Vlasova A. Pavlova M. Bolkov Institute of Immunology and Physiology UB RAS Ural Federal University Yekaterinburg Russia Regional Clinical Children Hospital No.1 Yekaterinburg Russia D. Rogachev National Research Center of Pediatric Hematology Oncology and Immunology Moscow Russia

x-linked Agammaglobulinemia (xLA) is the major primary immunodeficiency in which the body is unable to produce the antibodies responsible for the defense against bacteria and viruses. The patient (a 6-month-old boy) was born at term to non-consanguineous parents. Both parents and older sister are clinically healthy. At 3, 5 months of age he presented acute viral infection with glue ear. At 4 month—serous meningitis, at 5 month—laryngotracheitis and serous meningitis. The levels of immunoglobulins were decreased for Ig A and IgG isotypes. The virtual lack of CD19+ B-lymphocytes was defined. Additionally there was found a complete absence of KREC (kappa-deleting recombination excision circle) in dried blood spot. The molecular diagnostics of coding region of the BTK gene was performed. DNA sequencing analysis of patient showed a 13-bp deletion in exon 2 (c.64_76delCCTCTAAACTTCA), leading to occurrence of frameshift and premature termination codon (***22fsTer28). This mutation was not described earlier. The mother and the sister of proband showed heterozygosity at the same position. Prenatal diagnostic testing has become available to this family for next pregnancy.

关键词： x-linked Agammaglobulinemia Primary Immunodeficiency BTK-Gene

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Four Cases of x-linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing

引用

Open Journal of Genetics 2014年第1期4卷 40-45页

作者： David Vila-Pérez Sílvia Marín-del-Barrio Jordi Vila-Cots Jose Antonio Camacho-Díaz Marcos Morey Lourdes Loidi Department of Endocrinology Hospital Sant Joan de Déu Barcelona Spain Department of genomics Fundación Pública Galega de Medicina Xenómica Santiago de Compostela Spain Department of Nephrology Hospital Sant Joan de Déu Barcelona Spain

One of the major causes of congenital hypophosphatemic rickets is the x-linked hypophosphatemic rickets (xHR), due to a defect on PHEx gene. The xHR increases the renal elimination of phosphate, that condition leads a defective mineralization of bones and also affects the growth in children. Clinical diagnosis should be suspected in children with signs of rickets and hypophosphatemia with normal calcium levels. We describe clinical characteristics and genetic results of four patients diagnosed and treated in our Nephrology Section. All patients have a “de novo” xHR as none familiars are affected. Early diagnosis should be suspected before the bone deformities have been submitted and the growth would have been impaired.

关键词： Rickets x-linked Hypophosphatemic Rickets xHR PHEx Gene

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

x-linked deafness: A review of clinical and radiological findings and current management strategies

引用

World Journal of Otorhinolaryngology 2016年第1期6卷 19-22页

作者： Sonia Kumar Thomas Mawby Vanaja Sivapathasingam Jane Humphries James Ramsden ENT Department John Radcliffe Hospital

x-linked deafness is a rare genetic disorder causing a severe mixed hearing loss. This is due to an abnormal connection between the internal auditory meatus(IAM) and the basal turn of the cochlear leading to a "3rd window effect" and cochlear conductive hearing loss. Patients are traditionally treated with conventionalhearing aids however these are often unsatisfactory. Cochlear implantation is a high-risk procedure in such cases due to the risk of inadvertent electrode placement in the IAM. We present three paediatric cases where the hearing loss was managed with a combination of a bone anchored hearing aid in combination with a conventional behind the ear hearing aid. We also present a review of the current literature regarding the management of x-linked deafness.

关键词： x-linked deafness Bone anchored hearing aid 3^rd window Cochlear implantation Paediatric Conductive hearing loss Sensori-neural hearing loss

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Microdeletion on xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies

引用

Biomedical and Environmental Sciences 2024年第5期37卷 503-510页

作者： LI Min ZHANG Yu Lan ZHANG Kai Li LI Ping Ping LYU Yu Han LIANG Ya xin YU Yue Department of Gynecology and Obstetrics Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Chinese Academy of Medical Sciences and Peking Union Medical College Beijing HospitalBeijing 100730China The Key Laboratory of Geriatrics Beijing Institute of GeriatricsBeijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China

Objective VATER/VACTERL-like association is associated with adverse pregnancy *** evidence of this disorder is *** this study,we aimed to provide genetic insights to improve the diagnosis of *** We have described a Chinese family in which four members were affected by renal defects or agenesis,anal atresia,and anovaginal fistula,which is consistent with the diagnosis of a VACTERL-like *** and genetic analyses were conducted using genome and exome *** Segregation analysis revealed the presence of a recessive x-linked microdeletion in two living affected individuals,harboring a 196–380 kb microdeletion on xq27.1,which was identified by familial exome *** sequencing was performed on the affected male,confirming a-196 kb microdeletion in xq27.1,which included a 28%loss of the CDR-1 *** family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in *** These results suggest that the 196–380 kb microdeletion in xq27.1 could be a possible cause of the VATER/VACTERL-like ***,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.

关键词： Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing x-linked

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：