Results 11 - 20 of 4,128

Cloning of a human GHF-1/Pit-1 cDNA variant

by Flavia Pernasetti, Stefaan Wera, Ra Belayew, Joseph A. Martial , 1993
"... GHF-l/Pit-1 is a mammalian transcription factor involved in the pituitary-specific expression of the genes encoding growth hormone, thyrotropin stimulating hormone, and prolactin (1,2, 3). It belongs to the family of POU-HOMEO domain proteins, which has been remarkably conserved through evolution. T ..."
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. The sequences of two cDNAs encoding human Pit-1 have been published recently (4, 5) and their accession numbers are X62429 (EMBL) and D01114 (DDBJ) respectively. We have cloned human Pit-1 cDNA from two sources independently. First, Xgtl 1 human pituitary cDNA library (Clontech, ref. HL 1097b) was screened

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

by Wenyi Wang, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin, Curtis Palm, Rita Horvath, Thomas Klopstock, David Cutler, Lynn Pique, Iris Schrijver, Ronald W. Davis, Michael Mindrinos, Terence P. Speed, Curt Scharfe - Nucleic Acids Res , 2010
"... disorders with improved array-based sequencing ..."
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disorders with improved array-based sequencing

The diploid genome sequence of an individual human

by Samuel Levy, Granger Sutton, Pauline C. Ng, Lars Feuk, Aaron L. Halpern, Brian P. Walenz, Nelson Axelrod, Jiaqi Huang, Ewen F. Kirkness, Gennady Denisov, Yuan Lin, Jeffrey R. Macdonald, Andy Wing, Chun Pang, Mary Shago, Timothy B. Stockwell, Alexia Tsiamouri, Vineet Bafna, Vikas Bansal, Saul A. Kravitz, Dana A. Busam, Karen Y. Beeson, Tina C. Mcintosh, Karin A. Remington, Josep F. Abril, John Gill, Jon Borman, Yu-hui Rogers, Marvin E. Frazier, Stephen W. Scherer, Robert L. Strausberg, J. Craig Venter - PLoS Biol
"... Presented here is a genome sequence of an individual human. It was produced from;32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds, comprising 2,810 million bases (Mb) of contiguous sequence with approximately 7.5-fold coverage for any given r ..."
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.1 million DNA variants, encompassing 12.3 Mb. These variants (of which 1,288,319 were novel) included 3,213,401 single nucleotide polymorphisms (SNPs), 53,823 block substitutions (2–206 bp), 292,102 heterozygous insertion/deletion events (indels)(1–571 bp), 559,473 homozygous indels (1–82,711 bp), 90

ORIGINAL INVESTIGATION Model-based prediction of human hair color using DNA variants

by Wojciech Branicki, Fan Liu, Kate Duijn, Jolanta Draus-barini, Susan Walsh, Tomasz Kupiec, Anna Wojas-pelc, Manfred Kayser, W. Branicki, J. Draus-barini, T. Kupiec, W. Branicki, F. Liu, K. Duijn, S. Walsh, M. Kayser
"... Ó The Author(s) 2010. This article is published with open access at Springerlink.com Abstract Predicting complex human phenotypes from genotypes is the central concept of widely advocated personalized medicine, but so far has rarely led to high accuracies limiting practical applications. One notable ..."
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notable exception, although less relevant for medical but important for forensic purposes, is human eye color, for which it has been recently demonstrated that highly accurate prediction is feasible from a small number of DNA variants. Here, we demonstrate that human hair color is predictable from DNA

Mitochondrial DNA variant discovery and evaluation in human cardiomyopathies through next-generation sequencing

by Michael V. Zaragoza, Joseph Fass, Marta Diegoli, Dawei Lin, Eloisa Arbustini - PLoS ONE. 2010;5:e12295. Medline:20808834 doi:10.1371/journal.pone.0012295 46 Tang S, Huang
"... Mutations in mitochondrial DNA (mtDNA) may cause maternally-inherited cardiomyopathy and heart failure. In homoplasmy all mtDNA copies contain the mutation. In heteroplasmy there is a mixture of normal and mutant copies of mtDNA. The clinical phenotype of an affected individual depends on the type o ..."
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and two with suspected mitochondrial disease. We ‘‘shotgun’ ’ sequenced PCR-amplified mtDNA and multiplexed using a single run on Roche’s 454 Genome Sequencer. By mapping to the reference sequence, we obtained 1,3006 average coverage per case and identified high-confidence variants. By comparing these to

A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

by Hao Ran Lee, Peter D. Stenson, David N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu
"... Understanding the functional relevance of DNA variants is essential for all exome and genome sequencing projects. However, current mutagenesis cloning protocols require Sanger sequencing, and thus are prohibitively costly and labor-intensive. We describe a massively-parallel site-directed mutagenesi ..."
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Understanding the functional relevance of DNA variants is essential for all exome and genome sequencing projects. However, current mutagenesis cloning protocols require Sanger sequencing, and thus are prohibitively costly and labor-intensive. We describe a massively-parallel site

A Twin Study of Mitochondrial DNA Polymorphisms Shows that Heteroplasmy at Multiple Sites Is Associated with mtDNA Variant 16093 but Not with Zygosity

by Toby Andrew, Ra D. Calloway, Sarah Stuart, Sang Hoon Lee, Raj Gill, Gail Clement, Tim D. Spector, Ana M. Valdes
"... The mitochondrial theory of ageing proposes that damage to mitochondria and diminished mitochondrial DNA (mtDNA) repair are major contributors to cellular dysfunction and age-related diseases. We investigate the prevalence of heteroplasmy in the mtDNA control region in buccal swab and blood derived ..."
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The mitochondrial theory of ageing proposes that damage to mitochondria and diminished mitochondrial DNA (mtDNA) repair are major contributors to cellular dysfunction and age-related diseases. We investigate the prevalence of heteroplasmy in the mtDNA control region in buccal swab and blood derived

Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration

by John Paul Sangiovanni, Dan E. Arking, Sudha K. Iyengar, Michael Elashoff, Traci E. Clemons, George F. Reed, Alice K. Henning, Theru A. Sivakumaran, Xuming Xu, Andrew Dewan, Elena Rochtchina, Carolyn M. Sue, Jie Jin Wang, Paul Mitchell, Josephine Hoh, Peter J, Michael L. Klein, Emily Y. Chew, Aravinda Chakravarti - PLoS One
"... Background: Age-related macular degeneration (AMD), a chronic neurodegenerative and neovascular retinal disease, is the leading cause of blindness in elderly people of western European origin. While structural and functional alterations in mitochondria (mt) and their metabolites have been implicated ..."
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of inherited mtDNA variants with advanced AMD in 1168 people using a three-stage design on samples from 12-year and 10-year prospective studies on the natural history of age-related eye disease. In Stage I we resequenced the entire genome in 99 elderly AMD-free controls and 215 people with advanced AMD from

RESEARCH ARTICLE OFFICIAL JOURNAL www.hgvs.org Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

by Alberto Acedo, Eladio A. Velasco , 2014
"... ABSTRACT: Numerous pathogenic DNA variants im-pair the splicing mechanism in human genetic diseases. Minigenes are optimal approaches to test variants under the splicing viewpoint without the need of patient sam-ples. We aimed to design a robust minigene construct of the breast cancer gene BRCA2 in ..."
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ABSTRACT: Numerous pathogenic DNA variants im-pair the splicing mechanism in human genetic diseases. Minigenes are optimal approaches to test variants under the splicing viewpoint without the need of patient sam-ples. We aimed to design a robust minigene construct of the breast cancer gene BRCA2

Novel DNA Variants and Mutation Frequencies of hMLH1 and hMSH2 Genes in Colorectal Cancer in the Northeast China Population

by Fulan Hu, An Li, Yibaina Wang, Xiaoping Yao, Wencui Zhang, Jing Liang, Chunqing Lin, Jiaojiao Ren, Lin Zhu, Zhiwei Wu, Shuying Li, Ye Li, Xiaojuan Zhao, Binbin Cui, Xinshu Dong, Suli Tian Yashuang
"... Research on hMLH1 and hMSH2 mutations tend to focus on Lynch syndrome (LS) and LS-like colorectal cancer (CRC). No studies to date have assessed the role of hMLH1 and hMSH2 genes in mass sporadic CRC (without preselection by MSI or early age of onset). We aimed to identify novel hMLH1 and hMSH2 DNA ..."
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–SSCP sequencing. We identified 11 hMLH1 and seven hMSH2 DNA variants in our study cohort. Six of them were novel: four in hMLH1 gene (IVS8-16 A.T, c.644 GAT.GTT, c.1529 CAG.CGG and c.1831 ATT.TTT) and two in hMSH2 gene (239 C.T, insertion AACAACA at c.1127 and deletion AAG at c.1129). In sporadic CRC, germline
Results 11 - 20 of 4,128