Results 321 to 330 of about 299,286 (332)
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Mutational analysis of mitochondrial DNA of children with Rett syndrome
Pediatric Neurology, 1997The present study was undertaken to identify whether mitochondrial DNA (mtDNA) mutations were involved in the pathogenesis of Rett syndrome (RS). Mitochondrial DNA from 15 children with RS and 14 of their mothers was analyzed. No large deletions in mtDNA were found using Southern blot with a full-length mtDNA as a probe.
J, Tang, Y, Qi, X H, Bao, X R, Wu
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Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA
The Lancet, 1995not ...
WENGLER GS +5 more
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Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2009
To characterize important steps of DNA methylation by M.SssI, a prokaryotic DNA-(cytosine C5)-methyltransferase (C5-MTase) sharing the specificity of eukaryotic C5-MTases (5'-CG-3'), ten amino acids, selected on the basis of sequence alignments and a computational model, were subjected to mutational analysis.
Maria V, Darii +9 more
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To characterize important steps of DNA methylation by M.SssI, a prokaryotic DNA-(cytosine C5)-methyltransferase (C5-MTase) sharing the specificity of eukaryotic C5-MTases (5'-CG-3'), ten amino acids, selected on the basis of sequence alignments and a computational model, were subjected to mutational analysis.
Maria V, Darii +9 more
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[22] Mutational analysis of bacteriophage φ29 DNA polymerase
1995Publisher Summary This chapter discusses the mutational analysis of bacteriophage φ29 DNA polymerase. The fact that φ29 DNA polymerase is a small (66-kDa) single-subunit enzyme containing well-characterized enzymatic activities 1 makes this polymerase an appropriate system for structure-function studies.
Luis Blanco, Margarita Salas
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Microarray Technology for Mutation Analysis of Low-Template DNA Samples
2007Microarrays containing oligonucleotide mutation probes are emerging as useful platforms for the diagnosis of genetic disease. Herein, we describe the development and validation of an in-house microarray suitable for the diagnosis of common cystic fibrosis (CF) mutations in low-template DNA samples such as those taken for preimplantation genetic ...
Chelsea, Salvado, David, Cram
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Expert Opinion on Medical Diagnostics, 2007
A role of somatic mitochondrial (mt)DNA mutations in ageing and degenerative diseases was postulated decades ago, but this hypothesis remains untested. A substantial number of genetically engineered 'mutator' mouse lines with increased mtDNA mutation rates were expected to test the hypothesis.
Yevgenya, Kraytsberg +2 more
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A role of somatic mitochondrial (mt)DNA mutations in ageing and degenerative diseases was postulated decades ago, but this hypothesis remains untested. A substantial number of genetically engineered 'mutator' mouse lines with increased mtDNA mutation rates were expected to test the hypothesis.
Yevgenya, Kraytsberg +2 more
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Discovering Mutated Motifs in DNA Sequences: A Comparative Analysis
2020Locating motifs in DNA sequences is a traditional conjunctional and challenging problem in the discipline of bioinformatics. Motif refers to the biologically functional short, recurring common sequence pattern in DNA strands involved in important processes taking place at the genetic level in an organism.
Rajat Parashar +5 more
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Analysis of Human Mitochondrial DNA Mutations
2003Antonio L, Andreu +2 more
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[Mitochondrial DNA mutation analysis in patients with mitochondrial myopathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009To examine mitochondrial DNA mutations in mitochondrial myopathy.Three suspected cases of mitochondrial myopathy were examined by HE staining, histochemical staining methods and electron microscopy. The mutations in all 22 tRNA genes of mitochondrial genome were screened by polymerase chain reaction-single strand conformation polymorphism and DNA ...
Xiao-ai, Zhang +4 more
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