检索结果-南通市图书馆

Clinical characteristics and mutation analysis of propionic acidemia in Thailand

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of pediatrics 2014年第1期10卷 64-68页

作者： Nithiwat Vatanavicharn Somporn Liammongkolkul Osamu Sakamoto Mahattana Kamolsilp Achara Sathienkijkanchai Pornswan Wasant Division of Medical genetics Department of PediatricsFaculty of Medicine Siriraj HospitalMahidol UniversityBangkokThailand department of pediatrics Tohoku University School of MedicineSendaiJapan department of pediatrics Phramongkutklao HospitalBangkokThailand

Background:Propionic acidemia(PA)is caused by a deficiency of propionyl CoA carboxylase.A characteristic urine organic acid profile includes 3-hydroxypropionate,methylcitrate,tiglylglycine,and *** diagnosis of PA is confirmed by detection of mutations in the PCCA or PCCB *** herein report the clinical and molecular findings of four Thai patients with ***:Clinical findings of four Thai patients with PA were retrospectively *** organic acids were analyzed by gas chromatography-mass ***-sequencing analyses of encoding exons and intron/exon boundaries of the PCCA and PCCB genes were ***:All patients had neonatal onset of *** patient died of cardiomyopathy,and another one of pneumonia and metabolic *** remainder experienced significant neurocognitive *** analysis of the PCCA gene identified homozygous c.1284+1G>A in patient 1,c.230G>A(p.R77Q)and c.1855C>T(p.R619X)in patient 2,homozygous c.2125T>C(p.S709P)in patient 3,and only one mutant allele,c.231+1G>T in patient *** PCCB mutation was *** mutations including c.230G>A,c.231+1G>T,c.1855C>T,and c.2125T>C have not been reported ***:The clinical and molecular study of these Thai patients provided additional knowledge of the genotype and phenotype characteristics of *** results of the study suggested that PCCA mutations in Asian populations were distinct from those of other populations.

关键词： mutations propionic acidemia Thailand

Roles of the Y chromosome genes in human cancers

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2015年第3期17卷 373-380页

作者： Tatsuo Kido Yun-Fai Chris Lau Division of Cell and Developmental genetics Department of Medicine Veterans Affairs Medical Center Institute for Human Genetics University of California San Francisco California 94121 USA

Male and female differ genetically by their respective sex chromosome composition, that is, XY as male and XX as female. Although both X and Y chromosomes evolved from the same ancestor pair of autosomes, the Y chromosome harbors male-specific genes, which play pivotal roles in male sex determination, germ cell differentiation, and masculinization of various tissues. Deletions or translocation of the sex-determining gene, SRY, from the Y chromosome causes disorders of sex development （previously termed as an intersex condition） with dysgenic gonads. Failure of gonadal development results not only in infertility, but also in increased risks of germ cell tumor （GCT）, such as gonadoblastoma and various types of testicular GCT. Recent studies demonstrate that either loss of Y chromosome or ectopic expression of Y chromosome genes is closely associated with various male-biased diseases, including selected somatic cancers. These observations suggest that the Y-linked genes are involved in male health and diseases in more frequently than expected. Although only a small number of protein-coding genes are present in the male-specific region of Y chromosome, the impacts of Y chromosome genes on human diseases are still largely unknown, due to lack of in vivo models and differences between the Y chromosomes of human and rodents. In this review, we highlight the involvement of selected Y chromosome genes in cancer development in men.

关键词： germ cell tumors RBMY, Y-linked somatic cancers TSPY Y chromosome

Toward pluripotency by reprogramming:mechanisms and application

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Protein & Cell 2013年第11期4卷 820-832页

作者： Tao Wang Stephen TWarren Peng Jin department of human genetics Emory UniversityAtlantaGA 30322USA genetics and Molecular Biology Graduate Program Emory UniversityAtlantaGA 30322USA

The somatic epigenome can be reprogrammed to a pluri-potent state by a combination of transcription *** cell fate involves transcription factors coopera-tion,epigenetic reconfi guration,such as DNA methylation and histone modification,posttranscriptional regulation by microRNAs,and so ***,such reprogram-ming is *** suggests that during the early stage of reprogramming,the process is stochastic,but by the late stage,it is *** addition to con-ventional reprogramming methods,dozens of small mol-ecules have been identifi ed that can functionally replace reprogramming factors and signifi cantly improve induced pluripotent stem cell(iPSC)***,iPS cells have been created recently using chemical com-pounds *** are thought to display subtle genetic and epigenetic variability;this variability is not random,but occurs at hotspots across the *** we dis-cuss the progress and current perspectives in the fi *** into the reprogramming process today will pave the way for great advances in regenerative medicine in the future.

关键词： epigenetic reprogramming induced pluripo-tent stem cells embryonic stem cells disease modeling

HLA polymorphism of the Zhuang population reflects the common HLA characteristics among Zhuang-Dong language-speaking populations

在线全文

学校读者我要写书评

暂无评论

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第6期12卷 428-435页

作者： Li SHI Xiao-qin HUANG Lei SHI Yu-fen TAO Yu-feng YAO Liang YU Ke-qin LIN Wen YI Hao SUN Katsushi TOKUNAGA Jia-you CHU Institute of Medical Biology Chinese Academy of Medical Sciences & Peking Union Medical College Kunming 650118 China department of human genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan department of human genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan department of human genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan

A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, transplantation, and anthropology. In the present study, we report the comprehensive HLA-A, HLA-B, HLA-C, and HLA-DRB1 alleles and haplotypes in the Zhuang population of southern China for the first time. A total of 13 HLA-A, 24 HLA-B, 22 HLA-C, and 18 HLA-DRB1 were identified in 104 Zhuang individuals. The frequencies of HLA-A＊11：01, A^＊02：07, A^＊24：02, A^＊02：03, and A^＊33：03 on A loci, B^＊15：02, B^＊58：01, B^＊46：01, and B^＊13：01 on B loci, C^＊03：04, C^＊08：01, C^＊01：02, C^＊03：02, and C^＊07：02 on C loci, and DRBl＊15：01, DRBl^＊16：02, DRB1^＊14：01, DRBl^＊15：02, and DRBI^＊03：01 on the DRB1 loci were 〉10%. The A^＊33：03-C^＊03：02-B^＊58：01-DRBl^＊03：01 and A^＊02：07-C^＊01：02- B^＊46：01-DRB1^＊14：01 haplotypes were predominant in the Zhuang. The phylogenetic tree, as well as the analysis of haplotypes, suggested that the Zhuang are genetically similar to southern Chinese populations, especially the Zhuang-Dong language-speaking populations, such as the Bouyei, Dai, and Maonan. Even though the Zhuang and southern Chinese populations shared common alleles and haplotypes, the Zhuang has maintained its unique genetic characteristics.

关键词： human leukocyte antigen (HLA) alleles Haplotypes Zhuang population

Medical genetics:Towards precision medicine

在线全文

学校读者我要写书评

暂无评论

Journal of genetics and Genomics 2018年第2期45卷 55-56页

作者： Peng Jin department of human genetics Emory University School of MedicineAssociation of Chinese Geneticists in America

Medical genetics is defined as a branch of medicine that involves the diagnosis and management of hereditary disorders by applying genetics to medical *** human Genome Project,initiated in1990 and completed in 2004,has profoundly changed biology and is rapidly catalyzing a transformation of medical genetics and medicine in general（Collins and McKusick,2001;Green and Guyer,2011）.

关键词： Medical genetics:Towards precision medicine ctDNA

A Novel Missense Mutation(L296Q)in Cholesteryl Ester Transfer Protein Gene Related to Coronary Heart Disease

在线全文

学校读者我要写书评

暂无评论

Acta Biochimica et Biophysica Sinica 2004年第1期36卷 33-36页

作者： Ke-Qin ZHENG, Si-Zhong ZHANG, Li ZHANG, De-Jia HUANG, Lin-Chuan LIAO, and Yi-Ping HOU ( department of Medical genetics, West China Hospital Division of human Morbid Genomics, Key Laboratory ofBiotherapy of human Diseases of Ministry of Education, Sichuan University, Chengdu 610041, China department of Cardiology, West China Hospital, Sichuan University, Chengdu 610041, China School of Basic and Forensic Medicine, Sichuan University, Chengdu 610041, China) department of Medical genetics West China Hospita Division of human Morbid Genomics Key Laboratory of Biotherapy of Human Diseases of Ministry of Education Sichuan University Chengdu 610041 Chin

Cholesteryl ester transfer protein (CETP) is a key participant in the reverse transport of cholesterol from the peripheral tissues to the liver. To understand the role that CETP gene plays in the pathogenesis of coronary heart disease (CHD) , the promoter region, all 16 exons and adjacent intronic regions of CETP gene were screened for single nucleotide polymorphisms (SNPs) in 203 CHD patients and 209 controls by a combination of PCR, denaturing high performance liquid chromatography (DHPLC), molecular cloning, and DNA sequencing. A novel missense mutation in the CETP gene was identified. This mutation (L296Q) was a T-to-A conversion at codon 296 of exon 10 which replaced the codon for leucine (CTG) with the codon for glutamine (CAG). Association study revealed that L296Q mutation was associated with CHD with a significantly higher mutant allele frequency in the CHD patients than that in the controls (0. 160 vs. 0.091,x2= 9.014, P = 0.003), and that the odds ratio for the development of CHD was 1.83 for

关键词： cholesteryl ester transfer protein gene (CETP gene) coronary heart disease (CHD) missense mutation plasma lipids single nucleoti.de polymorphism (SNP)

Social-ecological correlates of fundamental movement skills in young children

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Journal of Sport and Health Science 2019年第2期8卷 122-129页

作者： Nan Zeng Susan L.Johnson Richard E.Boles Laura L.Bellows department of Food Science and human Nutrition Colorado State University department of pediatrics University of Colorado Anschutz Medical Campus

Purpose: To identify the social-ecological correlates associated with fundamental movement skills at the child, family, and environment levels in young ***: Preschool children from 4 Colorado Head Start/preschool centers were recruited from 2010 to 2012. Two hundred twenty-eight children(128 girls; age = 56.08 § 4.09 months; body mass index(BMI) z-score = 0.53 § 1.12(mean § SD); 42.1% Hispanic/Latino) and 159 families were included in the final analysis. Children's perceived competence and fundamental movement skills were assessed via the Pictorial Scale of Perceived Competence and Social Acceptance and the Bruininks-Oseretsky Test of Motor Proficiency, 2 nd edition. Data on the number of children in the family, parent age, BMI, education, employment status, family income, perception of child coordination, and home physical activity environment were collected via a questionnaire. Linear regressions adjusted for child BMI, age, sex, and school site were performed at each ***: Child perceived cognitive competence was positively associated with locomotor skills(p = 0.04; adjusted R2= 0.035) and object-control skills(p = 0.003; adjusted R2= 0.083) at the child level. Parent education, BMI, and perception of child coordination were positively associated with locomotor skills and explained 8.8% of variance, but only parent education was significant(p = 0.04) at the family level. In addition, physical environment was positively associated with locomotor skills(p = 0.02) and explained 5.5% of variance at the environment ***: Social-ecological correlates associated with young children's fundamental movement skills are multidimensional and differ according to skill category at the child, family, and environment levels.

关键词： Activity environment Fundamental movement skills Parent education Perceived cognitive competence Preschool children

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

在线全文

学校读者我要写书评

暂无评论

World Journal of pediatrics 2017年第4期13卷 392-394页

作者： Patra Yeetong Kanya Suphapeetiporn Vorasuk Shotelersuk Division of human genetics Department of BotanyFaculty of ScienceChulalongkorn UniversityBangkokThailand Excellence Center for Medical genetics King Chulalongkorn Memorial Hospitalthe Thai Red Cross SocietyBangkokThailand Center of Excellence for Medical genetics Department of PediatricsFaculty of MedicineChulalongkorn UniversityBangkokThailand

Griscelli syndrome type 2 (GS2;OMIM#607624) is a rare autosomal recessive disorder characterized by hypomelanosis with immunologic abnormalities and haemophagocytic lymphohistocytosis.[1] Neurological manifestations were reported in 67% of GS2 patients.[2]It is caused by mutations in the RAB27A gene.[3] The RAB27A gene encodes Rab27a,a member of the small GTPase superfamily,involved in vesicular fusion and trafficking.[3] Mutations in the MYO5A,RAB27A,or MLPH genes cause GS 1,GS2 or GS3,*** has been demonstrated that the tripartite protein complex (Rab27a/melanophilin/myosin Va) in melanocytes is needed for capturing mature melanosomes for transferring to keratinocytes.

关键词： Mutation analysis Griscelli syndrome Mutations

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Gastroenterology 2015年第14期21卷 4136-4149页

作者： Jun-Xiao Zhang Lei Fu Richarda M de Voer Marc-Manuel Hahn Peng Jin Chen-Xi Lv Eugène TP Verwiel Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Roland P Kuiper Jian-Qiu Sheng Ad Geurts van Kessel department of human genetics Radboud University Medical CenterRadboud Institute for Molecular Life Sciences department of Gastroenterology General Hospital of Beijing Military Region Third Military Medical University Chongqing 400038China department of human genetics and department of Pathology Radboud University Medical Center

AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer(CRC) predisposing genes in early-onset or familial CRC ***: We performed whole-exome sequencing in 23 Chinese patients from 21 families with nonpolyposis CRC diagnosed at ≤ 40 years of age, or from multiple affected CRC families with at least 1 firstdegree relative diagnosed with CRC at ≤ 55 years of *** DNA from blood was enriched for exome sequences using the Sure Select human All Exon Kit, version 2(Agilent Technologies) and sequencing was performed on an Illumina Hi Seq 2000 *** were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing ***: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger *** 6 of the 21 families(29%), we identified 7 mutations in 3 known CRC predisposing genes including MLH1(5 patients), MSH2(1 patient), and MUTYH(biallelic, 1 patient), five of which were reported as *** remaining 15 families, we identified 20 rare and novel potentially deleterious variants in 19 genes, six of which were truncating *** previously unreported variant identified in a conserved region of EIF2AK4(***738_Asp739insA rgA rg) was found to represent a local Chinese variant, which was significantly enriched in our early-onset CRC patient cohort compared to a control cohort of 100 healthy Chinese individuals scored negative by colonoscopy(33.3% vs 7%, P < 0.001).CONCLUSION: Whole-exome sequencing of early-onset or familial CRC cases serves as an efficient method to identify known and potential pathogenic variants in established and novel candidate CRC predisposing genes.

关键词： Colorectal cancer Cancer predisposition Early-onse