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GJB2 mutation spectrum in Inner Mongolia and its comparison with other Asian populations

Journal of Otology 2007年第2期2卷 81-91页

作者： Lee-Jun C. Wong department of Molecular and human genetics Baylor College of Medicine Houston Texas USA

Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the mutation spectrum and prevalence of mutations vary among different ethnic groups. Every year, 30, 000 babies are born with congenital hearing impairment in China. In order to provide appropriate genetic testing and counseling to the family, we investigated the molecular etiology of nonsyndromic deafness in 135 unrelated school children attending Chifeng Municipal Special Education School in Inner Mongolia, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. In addition, the 12S rRNA gene and tRNAser(UCN) of mitochondrial genome were screened for mutations responsible for hearing impairment. Sixty four GJB2 mutant alleles, including 60 confirmed pathogenic alleles and 4 unclassified variants, were identified in 31.1% (42/135) of the subjects. Twenty two subjects carried two pathogenic mutations and 20 subjects carried one mutant allele, including one subject with one autosomal dominant mutation. The 235delC was the most common mutation accounting for 65.6%(42/64) GJB2 mutant alleles. When compared to other Asian populations, our subject cohort had higher frequency of 235delC mutation than the Japanese population. The GJB2 mutant alleles account for 23.7% (64/270) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 4 most prevalent deleterious frame shift mutations(235delC, 29900delAT, 17691del16, and 56005ins46) in this cohort detected 90% of all GJB2 mutant alleles. These results demonstrate that effective genetic testing of the GJB2 gene for patients and families with nonsyndromic hearing impairment is possible in the Chinese population. Since the most common 309kb GJB6 deletion is not detected and only one 1555 A>G mutation in mitochondrial DNA is detected in our patients, investigation of mutations in other nuclear genes and/or environmental factors responsible for nonsyndromic hearin

关键词： GJB2 mutation non-syndromic hearing impairment

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Double trisomy 48,XXX,+18 with multiple dysmorphic features

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World Journal of pediatrics 2015年第1期11卷 83-88页

作者： Zi-Yan Jiang Xiao-Hui Wu Chao-Chun Zou department of pediatrics Children's Hospital Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics(Zhejiang University) Ministry of Education

Background:Chromosomal abnormality is a common cause of congenital anomalies,psychiatric disorders,and mental ***,the double trisomy 48,XXX,+18 is a rare chromosome ***:Case report and literature ***:A 7-hour-old girl presented to our unit because of poor response after *** presented with multiple dysmorphic features,including small for gestational age infant,flat nasal bridge,widely-spaced eyes,the left thumb deformities,flat facial profile,raised sternum,ventricular septal defect,the third lateral brain ventricle enlargement,and small *** case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+*** literature on 16 fetuses or infants with the 48,XXX,+18 were also ***:These data suggested that in patients with clinical features similar to trisomy 18,especially with anomalies of the ears and/or reproductive malformations,double trisomy(48,XXX,+18)should be considered and karyotyping should be performed although it is a rare disease.

关键词： 48,XXX,+18 chromosome abnormality double trisomy multiple dysmorphic features

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Delivering on the promise of gene editing for cystic fibrosis

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Genes & Diseases 2019年第2期6卷 97-108页

作者： Craig A.Hodges Ronald A.Conlon department of pediatrics Case Western Reserve UniversityClevelandOHUSA department of genetics and Genome Sciences Case Western Reserve UniversityClevelandOHUSA

In this review,we describe a path for translation of gene editing into therapy for cystic fibrosis(CF).Cystic fibrosis results from mutations in the CFTR gene,with one allele predominant in patient *** simple,genetic etiology makes gene editing appealing for treatment of this *** already have been success in applying this approach to cystic fibrosis in cell and animal models,although these advances have been modest in comparison to advances for other *** than six years after its first demonstration in animals,CRISPR/Cas gene editing is in early clinical trials for several *** clinical trials,thus far,attempt to edit genes in cells of the blood *** advantage of the blood is that the stem cells are known,can be isolated,edited,selected,expanded,and returned to the *** likely next trials will be in the liver,which is accessible to many delivery *** cystic fibrosis,the biggest hurdle is to deliver editors to other,less accessible *** outline a path by which delivery can be *** translation of new therapies doesn’t occur in isolation,and the development of gene editors is occurring as advances in gene therapy and small molecule therapeutics are being *** advances made in gene therapy may help develop delivery vehicles for gene editing,although major improvements are ***,the approval of effective small molecule therapies for many patients with cystic fibrosis will raise the bar for translation of gene editing.

关键词： CFTR gene CRISPR/Cas9 Cystic fibrosis Gene editing Gene therapy

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Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia

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World Journal of pediatrics 2019年第1期15卷 66-71页

作者： Pei-Zhong Bao Jun Ye Lian-Shu Han Wen-Juan Qiu Hui-Wen Zhang Yong-Guo Yu Jian-Guo Wang Xue-Fan Gu department of Endocrinology and genetics Shanghai Institute of PediatricsXinhua HospitalShanghai Jiaotong University School of Medicine1665 Kong Jiang RoadShanghai 200092China

Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of *** We compared the urine neopterin (N),biopterin (B),isoxanthopterin (Iso),B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD,and found the most specific pterin biomarkers by ROC analysis.A positive cut-off value of urine pterins was *** effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated,and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were *** concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was *** (1) Urinary B,B%,Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01);(2) Iso%,B%,and B were the most specific markers;(3) The positive cut-off values of B,B%,Iso% for PTPSD were < 0.17 mmoL/moLCr,< 5.0%,and < 9.5%,respectively;(4) urinary B +B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional *** Iso% levels in FPTPSD group were higher than the ones in PTPSD group;(5) an accuracy of diagnosis for PTPSD was increased by 9-19% when Iso% was introduced to urinary pterin *** Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of *** approach is worthy of further development and increased utilization.

关键词： 6-Pyruvoyltetrahydropterin synthase Hyperphenylalaninemia Isoxanthopterin Phenylalanine hydroxylase Pterin

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Post-Mortem MRI and Histopathology in Neurologic Disease:A Translational Approach

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Neuroscience Bulletin 2019年第2期35卷 229-243页

作者： Laura E.Jonkman Boyd Kenkhuis Jeroen J.G.Geurts Wilma D.J.van de Berg department of Anatomy and Neurosciences Amsterdam Neuroscience Amsterdam UMC Vrije Universiteit Amsterdam department of human genetics Leiden University Medical Center department of Radiology Leiden University Medical Center

In this review, combined post-mortem brain magnetic resonance imaging(MRI) and histology studies are highlighted, illustrating the relevance of translational approaches to de?ne novel MRI signatures of neuropathological lesions in neuroin?ammatory and neurodegenerative disorders. Initial studies combining post-mortem MRI and histology have validated various MRI sequences,assessing their sensitivity and speci?city as diagnostic biomarkers in neurologic disease. More recent studies have focused on de?ning new radiological(bio)markers and implementing them in the clinical(research) setting. By combining neurological and neuroanatomical expertise with radiological development and pathological validation,a cycle emerges that allows for the discovery of novel MRI biomarkers to be implemented in vivo. Examples of this cycle are presented for multiple sclerosis, Alzheimer's disease, Parkinson's disease, and traumatic brain *** applications have been shown to be successful, while others require further validation. In conclusion, there is much to explore with post-mortem MRI and histology studies, which can eventually be of high relevance for clinical practice.

关键词： MRI Histology Biomarkers Multiple sclerosis Alzheimer’s disease Parkinson’s disease

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EDISON-WMW: Exact Dynamic Programing Solution of the Wilcoxon–Mann–Whitney Test

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Genomics, Proteomics & Bioinformatics 2016年第1期14卷 55-61页

作者： Alexander Marx Christina Backes Eckart Meese Hans-Peter Lenhof Andreas Keller Chair for Clinical Bioinformatics Medical Faculty Saarland University department of human genetics Saarland University University Hospital Chair for Bioinformatics Saarland University

In many research disciplines, hypothesis tests are applied to evaluate whether findings are statistically significant or could be explained by chance. The Wilcoxon-Mann-Whitney （WMW） test is among the most popular hypothesis tests in medicine and life science to analyze if two groups of samples are equally distributed. This nonparametric statistical homogeneity test is commonly applied in molecular diagnosis. Generally, the solution of the WMW test takes a high combinatorial effort for large sample cohorts containing a significant number of ties. Hence, P value is frequently approximated by a normal distribution. We developed EDISON-WMW, a new approach to calcu- late the exact permutation of the two-tailed unpaired WMW test without any corrections required and allowing for ties. The method relies on dynamic programing to solve the combinatorial problem of the WMW test efficiently. Beyond a straightforward implementation of the algorithm, we pre- sented different optimization strategies and developed a parallel solution. Using our program, the exact P value for large cohorts containing more than 1000 samples with ties can be calculated within minutes. We demonstrate the performance of this novel approach on randomly-generated data, benchmark it against 13 other commonly-applied approaches and moreover evaluate molec- ular biomarkers for lung carcinoma and chronic obstructive pulmonary disease （COPD）. We foundthat approximated P values were generally higher than the exact solution provided by EDISON- WMW. Importantly, the algorithm can also be applied to high-throughput omics datasets, where hundreds or thousands of features are included. To provide easy access to the multi-threaded version of EDISON-WMW, a web-based solution of our algorithm is freely available at http：// ***/software/wtest/.

关键词： Wilcoxon-Mann-Whitneytest:Wilcoxon rank-sum test Dynamic programing Exact permutation Parallel optimization

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Developing DNA methylation-based diagnostic biomarkers

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Journal of genetics and Genomics 2018年第2期45卷 87-97页

作者： Hyerim Kim Xudong Wang Peng Jin department of human genetics School of Medicine Emory University Atlanta CA 30322 USA department of Gastroenterological Surgery The Second Hospital Jilin University Changchun 130041 China

An emerging paradigm shift for disease diagnosis is to rely on molecular characterization beyond traditional clinical and symptom-based examinations. Although genetic alterations and transcription signature were first introduced as potential biomarkers, clinical implementations of these markers are limited due to low reproducibility and accuracy. Instead, epigenetic changes are considered as an alternative approach to disease diagnosis. Complex epigenetic regulation is required for normal biological functions and it has been shown that distinctive epigenetic disruptions could contribute to disease pathogenesis. Disease-specific epigenetic changes, especially DNA methylation, have been observed,suggesting its potential as disease biomarkers for diagnosis. In addition to specificity, the feasibility of detecting disease-associated methylation marks in the biological specimens collcted noninvasively,such as blood samples, has driven the clinical studies to validate disease-specific DNA methylation changes as a diagnostic biomarker. Here, we highlight the advantages of DNA methylation signature for diagnosis in different diseases and discuss the statistical and technical challenges to be overcome before clinical implementation.

关键词： DNA methylation Epigenetics Molecular diagnosis Biomarker Liquid biopsy Cancer Brain disorders

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Helicobacter pylori infection and atopic diseases:Is there a relationship? A systematic review and meta-analysis

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World Journal of Gastroenterology 2014年第46期20卷 17635-17647页

作者： Elena Lionetti Salvatore Leonardi Angela Lanzafame Maria Teresa Garozzo Martina Filippelli Stefania Tomarchio Viviana Ferrara Carmelo Salpietro Alfredo Pulvirenti Ruggiero Francavilla Carlo Catassi department of pediatrics University of Catania95100 CataniaItaly department of pediatrics Unit of Pediatric Genetics and ImmunologyUniversity of Messina98125 MessinaItaly department of Clinical and Molecular Biomedicine University of Catania95100 CataniaItaly department of Developmental Medicine University of Bari70124 BariItaly department of pediatrics Università Politecnica delle Marche60123 AnconaItaly

AIM: To review and conduct a meta-analysis of the existing literature on the relationship between Helicobacter pylori (H. pylori), atopy and allergic diseases.

关键词： Atopy Allergic diseases Helicobacter pylori Hygiene hypothesis Infection

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Genetic and epigenetic alterations associated with gestational diabetes mellitus and adverse neonatal outcomes

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World Journal of Clinical pediatrics 2025年第1期14卷 6-20页

作者： Amreen Shamsad Tanu Gautam Renu Singh Monisha Banerjee Molecular and human genetics Laboratory Department of ZoologyUniversity of LucknowLucknow 226007Uttar PradeshIndia department of Obstetrics and Gynecology King George’s Medical UniversityLucknow 226003Uttar PradeshIndia

Gestational diabetes mellitus(GDM)is a metabolic disorder,recognised during 24-28 weeks of *** is linked with adverse newborn outcomes such as macrosomia,premature delivery,metabolic disorder,cardiovascular,and neurological *** investigations have focused on the correlation of genetic factors such asβ-cell function and insulin secretary genes(transcription factor 7 like 2,potassium voltage-gated channel subfamily q member 1,adipo-nectin etc.)on maternal metabolism during gestation leading to *** alterations like DNA methylation,histone modification,and miRNA expression can influence gene expression and play a dominant role in feto-maternal meta-bolic *** between genes and environment,resulting in differ-ential gene expression patterns may lead to *** suggested that GDM women are more susceptible to insulin resistance,which alters intrauterine surroundings,resulting hyperglycemia and *** modi-fications in genes affecting neuroendocrine activities,and metabolism,increase the risk of obesity and type 2 diabetes in *** is currently no treatment or effective preventive method for GDM,since the molecular processes of insulin resistance are not well *** present review was undertaken to un-derstand the pathophysiology of GDM and its effects on adverse neonatal *** addition,the study of genetic and epigenetic alterations will provide lead to researchers in the search for predictive molecular biomarkers.

关键词： Gene expression Gestational diabetes mellitus Feto-maternal outcome Epigenetic alteration Molecular biomarkers

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Multi-biological defects caused by lead exposure exhibit transferable properties from exposed parents to their progeny in Caenorhabditis elegans

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Journal of Environmental Sciences 2007年第11期19卷 1367-1372页

作者： WANG Da-yong YANG Peng department of genetics and Developmental Biology Southeast University Nanjing 210009 China Key Laboratory of Developmental Genes and human Disease Ministry of Education of China Nanjing 210009 China

Whether the multi-biological toxicity from lead exposure could be transferred to progeny has not been clarified. In the present study, we explored the Caenorhabditis elegans to analyze the multiple toxicities from lead exposure and their possibly transferable properties. The lead exposure could cause series of severe multi-biological defects with a concentration-dependent manner by affecting the endpoints of life span, development, reproduction and locomotion behaviors in nematodes. Moreover, most of these toxicities could be transferred to progeny from lead exposed animals and some of the defects in progeny appeared even more severe than in their parents, such as the body sizes and mean life spans. We summarized the defects caused by lead exposure into three groups according to their transferable properties or rescue patterns. That is, the defects caused by lead exposure could be largely, or partially, or became even more severe in progeny animals. Therefore, our results suggest that lead exposure can cause severely multi-biological defects, and most of these multiple toxicities can be considered as transferable for exposed animals in C. elegans.

关键词： lead exposure toxicity transferable phenotype behavior Caenorhabditis elegans

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