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湖北省遗传学会第八次代表大会暨学术讨论会

作者： Yong Gao~(1#),Shujiang Xu~(2#),Cheng Wang~1,Juan Liu~1,Mingxiong Yuan~1,Xiao Ping luo~3,Mugen Liu ~1 Qing K Wang~(1,4),Jing Yu Liu~(1*) 1 Key Laboratory of molecular Biophysics of the Ministry of Education,Center for Human Genome research,College of Life Science and Technology,Huazhong university of Science and Technology, Wuhan,430074,China 2 Development of orthopaedics,Renmin Hospital of Tanghe,Tanghe,473600, China 3 department of Pediatrics,Tongji Hospital of Tongji Medical College,Huazhong university of Science and Technology,Wuhan 430030,China 4 department of molecular cardiology,lerner research institute,the cleveland clinic foundation,case western reserve university,44195, cleveland,ohio,usa

A Chinese family with three siblings and autosomal recessive mucolipidosisⅢc was identified and the proband was evaluated by detecting the activity of several lysosomal *** detected results were significantly elevated in the *** analysis with markers spanning 2 known genes for mucolipidosisⅢrevealed linkage of the family to the *** analysis of all exons and exon-intron boundaries of GNPTG was carried out using direct DNA sequence *** this study, novel compound heterozygous mutations for a Chinese family with MLⅢc are founded,c.471 del C mutation in exon 7(p.C157fs) from the carrier father and a splicing mutation IVS4-1G>C from the carrier *** mutations exist in three *** c.471 del C mutation resulted in a frame-shift change and led to formation of a premature termination codon(PTC) four amino acid residues *** in vitro splicing assay using HeLa cells transfected with expression vectors containing the normal or the mutant GNPTG minigenes consisting of genomic fragments spanning exon 4 to exon 9 showed that the IVS4-1G>C mutation caused abnormal splicing,which resulted in severely truncated GNPTG *** results provide strong evidence that the splicing mutation IVS4-1G>C and the deletion mutation c.471 del C of GNPTG are a cause of MLⅢc in the Chinese family.

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A novel mutation of PAX3 in a large Chinese family with Waardenburg syndrome I

A novel mutation of PAX3 in a large Chinese family with Waar...

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湖北省遗传学会第八次代表大会暨学术讨论会

作者： Juan Liu~1,Xiangfu Meng~2,Caixia Sun~2,Jingmin Wen~1,Yulei Li~3,Yong Gao~1,Xiangyang Zhang~1, Mugen Liu~1,Qing K Wang~(1,4),Jing Yu Liu~(1*) 1 Key Laboratory of molecular Biophysics of the Ministry of Education,Center for Human Genome research,College of Life Science and Technology,Huazhong university of Science and Technology, Wuhan,430074,China 2 Development of Neurology,Renmin Hospital of Xiajin,Xiajin,253000, China 3 Key Open Laboratory for Tissue Regeneration of Henan Universities,department of Life Science and Technique,Xinxiang Medical university,Xinxiang,453003,China 4 department of molecular cardiology,lerner research institute,the cleveland clinic foundation,case western reserve university,44195,cleveland,ohio,usa

Waardenburg syndrome(WS) is a genetically heterogeneous disorder characterized by manifests with sensorineural deafness and pigmentation defects of the hair,skin,and *** syndrome is classified into four types depending on the presence or absence of additional symptoms. Waardenburg syndrome type 1 WS,type 2 WS,Type 3 WS and Type 4 *** and 3 are due to mutations in the PAX3 ***2 are associated with mutations of MITF,SNAI2,and SOX10,in addition,there are two loci,1p21-p13.3 and ***4 can result from mutations in the endothelin-B receptor gene(EDNRB),and in the gene for its ligand,endothelin-3(EDN3).WSl and 2 are distinguished by the presence or absence of dystopia canthorum,***3 is distinguished by the presence of limb ***4,referred to as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung disease is characterized by the presence of an aganglionic ***1, 2 and 3 are autosomal dominant disorder,whereas WS4 is autosomal recessive disorder.

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A novel splicing mutation IVS7-2A>C of the ADAR1 gene in Chinese family with dyschromatosis symmetrica hereditaria

A novel splicing mutation IVS7-2A>C of the ADAR1 gene in Chi...

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湖北省遗传学会第八次代表大会暨学术讨论会

作者： Jingmin Wen~1,Hanyang Xu~1,Guohua Yang~1,Yong Gao~1,Mugen Liu~1,QK Wang~(1,2),Jingyu Liu~(1*) 1 Key Laboratory of molecular Biophysics of the Ministry of Education,Center for Human Genome research,College of Life Science and Technology,Huazhong university of Science and Technology, Wuhan,430074,Hubei,P.R.China 2 department of molecular cardiology,lerner research institute, the cleveland clinic foundation,case western reserve university,44195,cleveland,ohio,usa

Dyschromatosis symmetrica hereditaria(DSH) is a rare autosomal dominantly inherited dermatosis and characterized by a mixture of hyperpigmented and hypopigmented macules on the back of hands and *** DSH locus was mapped to chromosome 1q21 and subsequently pathogenic mutations were identified in the adenosine deaminase acting on RNA1(ADAR1) gene in 2003.A large Chinese family with autosomal dominance DSH was *** analysis revealed linkage of the family to the *** exons and exon-intron boundaries of ADAR1 were PCR-amplified and sequenced with DNA samples from the *** fragment length polymorphism(RFLP) analysis for intron 7-exon 8 boundary of ADAR1 was performed in all family members and 100 normal control subjects.A novel splicing mutation IVS7-2A>C was detected in the ADAR1 *** mutation was present in other affected family members,but not in other normal family members and 100 normal *** in vitro splicing assay using HeLa cells transfected with expression vectors containing the normal or the mutant ADAR1 minigenes consisting of genomic fragments spanning exon 7 to exon 10 showed that the IVS7-2A>C mutation caused abnormal splicing,leading to severely truncated ADAR1 *** results indicate that the novel IVS7-2A>C mutation in the ADAR1 gene is responsible for DSH in the Chinese family,this study expands the spectrum of ADAR1 gene mutations associated with DSH,which have further improved our understanding on the role of ADAR1 in DSH. A Novel a B-Crystallin Mutation Associated with

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Identification and molecular characterization of two novel mutations of exon 49 in COL1A2 gene in two Chinese families with Osteogenesis Imperfecta

Identification and molecular characterization of two novel m...

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湖北省遗传学会第八次代表大会暨学术讨论会

作者： Zhenping Xu~(1,2),Yulei Li~2,Yong Gao~1,Xiangyang Zhang~1, Mugen Liu~1,Qing K Wang~(1,3),Jing Yu Liu~(1*) 1 Key Laboratory of molecular Biophysics of the Ministry of Education,Center for Human Genome research,College of Life Science and Technology,Huazhong university of Science and Technology, Wuhan,430074,China 2 Key Open Laboratory for Tissue Regeneration of Henan Universities,department of Life Science and Technique,Xinxiang Medical university,Xinxiang,453003,China 3 department of molecular cardiology,lerner research institute,the cleveland clinic foundation, case western reserve university,44195,cleveland,ohio,usa

Osteogenesis imperfecta,or brittle bone disease,are caused by mutations in typeⅠcollagen genes COL1A1 and COL1A2,encoding the proal(I) and proa2(I) chains of typeⅠcollagen,*** three-generation chinesse families with OI typeⅢand autosomal dominant were identified and *** analysis revealed linkage of the familes to the COL1A2 gene on chromosome *** analysis of all exons and exon-intron boundaries of COL1A2 was carried out using direct DNA sequence *** this study,two novel missense mutations c.3305G>C,p.G1102A and c.3350 A>G,p.Y1117C in exon 49 of affected family 1 and family 2 members were identified, *** mutations were found in unaffected family menbers and 200 nomal controls.G1102 and Y1117 residues are evolutionarily highly conserved from Danio,Gallus,and Mus to *** results strongly suggest that mutations are pathogenic causes for osteogenesis imperfecta in two Chinese familes.

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Protein kinase A-mediated phosphorylation of HERG potassium channels in a human cell line

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中华医学杂志(英文版) 2002年第5期000卷 28-36页

作者： WEI Zhang, Dierk Thomas, Christoph A Karle, Sven Kathfer, Johannes Schenkel, Volker A W Kreye, Eckhard Ficker Barbara A Wible and Johann Kiehn department of cardiology, Medical university Hospital Heidelberg, Heidelberg, Germany (Zhang W, T department of cardiology Medical University Hospital Heidelberg Heidelberg Germany department of Physiology and Pathophysiology University of HeidelbergHeidelberg Germany Rammelkamp Center for Education and research Case Western Reserve University School of Medicine MetroHealth Medical Center Cleveland USA

Objective To investigate the molecular mechanism of human ether a go go related gene (HERG) potassium channels regulated by protein kinase A (PKA) in a human cell line Methods HERG channels were stably expressed in human embryonic kidney (HEK) 293 cells, and currents were measured with the patch clamp technique The direct phosphorylation of HERG channel proteins expressed heterologously in Xenopus laevis oocytes was examined by 32 P labeling and immunoprecipitation with an anti HERG antibody Results Elevation of the intracellular cAMP concentration by incubation with the adenylate cyclase activator, forskolin (10?μmol/L), and the broad range phosphodiesterase inhibitor, IBMX (100?μmol/L), caused a HERG tail current reduction of 83 2% In addition, direct application of the membrane permeable cAMP analog, 8 Br cAMP (500?μmol/L), reduced the tail current amplitude by 29 3% Intracellular application of the catalytic subunit of protein kinase A (200 U/ml) led to a tail current decrease by 56 9% and shifted the activation curve by 15 4 mV towards more positive potentials HERG WT proteins showed two phosphorylated bands, an upper band with a molecular mass of ≈155 kDa and a lower band with a molecular mass of ≈135 kDa, indicating that both the core and the fully glycosylated forms of the protein were phosphorylated Conclusions PKA mediated phosphorylation of HERG channels causes current reduction in a human cell line The coupling between the repolarizing cardiac HERG potassium current and the protein kinase A system could contribute to arrhythmogenesis under pathophysiological conditions

关键词： adrenergic stimulation · arrhythmia · cyclic AMP · HERG potassium channel · protein kinase A

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No association between phosphatase and tensin homolog genetic polymorphisms and colon cancer

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World Journal of Gastroenterology 2009年第30期15卷 3771-3775页

作者： Lynette S Phillips Cheryl L Thompson Alona Merkulova Sarah J Plummer Thomas C Tucker Graham case Li Li department of Epidemiology and Biostatistics and case Comprehensive Cancer Center Case Western Reserve University Cleveland OH 44106-7136 United States departments of Family Medicine and Epidemiology and Biostatistics Case Center for Transdisciplinary Research on Energetics and Cancer Case Comprehensive Cancer Center Case Western Reserve University Cleveland OH 44106-7136m United States department of Cancer Biology Cleveland Clinic Foundation Cleveland OH 44195-0001 United States Graham casey Department of Preventive Medicine University of Southern California Los Angeles CA 90033-1006 United States assisted with patient referrals recruitment and reviewed the manuscript coordinated the lab work and reviewed the manuscript Li L led the study design data collection and assisted with the manuscript preparation

AIM: To investigate the association between single nucleotide polymorphisms (SNPs) in the phosphatase and tensin homolog (PTEN) tumor suppressor gene and risk of colon cancer. METHODS: We utilized a population-based casecontrol study of incident colon cancer individuals (n= 421) and controls (n = 483) aged ≥ 30 years to conduct a comprehensive tagSNP association analysis of the PTEN gene. RESULTS: None of the PTEN SNPs were statistically significantly associated with colon cancer when controlled for age, gender, and race, or when additionally adjusted for other known risk factors (P > 0.05). Haplotype analyses similarly showed no association between the PTEN gene and colon cancer. CONCLUSION: Our study does not support PTEN as a colon cancer susceptibility gene.

关键词： Colon cancer Phosphatase and tensinhomolog Candidate gene Genetic polymorphisms Single nucleotide polymorphism association

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