The Experts below are selected from a list of 185127 Experts worldwide ranked by ideXlab platform
Susanne Walitza - One of the best experts on this subject based on the ideXlab platform.
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High-resolution chromosomal Microarray Analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability
2020Co-Authors: Anna Maria Werling, Edna Grunblatt, Beatrice Oneda, Marcel Romanos, Anita Rauch, Elise Bobrowski, Ronnie Gundelfinger, Regina Taurines, Susanne WalitzaAbstract:Copy-number variants (CNVs), in particular rare, small and large ones ( 1 Mb) CNVs as reported in ASD and ID. We performed high-resolution chromosomal Microarray Analysis in 108 children and adolescents with HFA without ID. There was no significant difference in the overall number of rare CNVs compared to 124 random population samples. However, patients with HFA carried significantly more frequently CNVs containing brain-related genes. Surprisingly, six HFA patients carried very large CNVs known to be typically present in ID. Our findings provide new evidence that not only small, but also large CNVs affecting several key genes contribute to the genetic etiology/risk of HFA without affecting their intellectual ability.
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high resolution chromosomal Microarray Analysis in paediatric obsessive compulsive disorder
2017Co-Authors: Edna Grunblatt, Beatrice Oneda, Arif B Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch, Susanne WalitzaAbstract:Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO), the patients manifest a more severe phenotype, and an increased heritability. Large (>500 kb) copy number variations (CNVs) previously associated with autism and schizophrenia have been reported in OCD. Recently, rare CNVs smaller than 500 kb overlapping risk loci for other neurodevelopmental conditions have also been reported in OCD, stressing the importance of examining CNVs of any size range. The aim of this study was to further investigate the role of rare and small CNVs in the aetiology of EO-OCD. We performed high-resolution chromosomal Microarray Analysis in 121 paediatric OCD patients and in 124 random controls to identify rare CNVs (>50 kb) which might contribute to EO-OCD. The frequencies and the size of the observed rare CNVs in the patients did not differ from the controls. However, we observed a significantly higher frequency of rare CNVs affecting brain related genes, especially deletions, in the patients (OR = 1.98, 95% CI 1.02–3.84; OR = 3.61, 95% CI 1.14–11.41, respectively). Similarly, enrichment-Analysis of CNVs gene content, performed with three independent methods, confirmed significant clustering of predefined genes involved in synaptic/brain related functional pathways in the patients but not in the controls. In two patients we detected de-novo CNVs encompassing genes previously associated with different neurodevelopmental disorders (NRXN1, ANKS1B, UHRF1BP1). Our results further strengthen the role of small rare CNVs, particularly deletions, as susceptibility factors for paediatric OCD.
Mitinori Saitou - One of the best experts on this subject based on the ideXlab platform.
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Global single-cell cDNA amplification to provide a template for representative high-density oligonucleotide Microarray Analysis.
2007Co-Authors: Kazuki Kurimoto, Yukihiro Yabuta, Yasuhide Ohinata, Mitinori SaitouAbstract:Global single-cell cDNA amplification to provide a template for representative high-density oligonucleotide Microarray Analysis
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an improved single cell cdna amplification method for efficient high density oligonucleotide Microarray Analysis
2006Co-Authors: Kazuki Kurimoto, Yukihiro Yabuta, Yasuhide Ohinata, Rikuhiro G Yamada, Hiroki R Ueda, Mitinori SaitouAbstract:A systems-level understanding of a small but essential population of cells in development or adulthood (e.g. somatic stem cells) requires accurate quantitative monitoring of genome-wide gene expression, ideally from single cells. We report here a strategy to globally amplify mRNAs from single cells for highly quantitative high-density oligonucleotide Microarray Analysis that combines a small number of directional PCR cycles with subsequent linear amplification. Using this strategy, both the representation of gene expression profiles and reproducibility between individual experiments are unambiguously improved from the original method, along with high coverage and accuracy. The immediate application of this method to single cells in the undifferentiated inner cell masses of mouse blastocysts at embryonic day (E) 3.5 revealed the presence of two populations of cells, one with primitive endoderm (PE) expression and the other with pluripotent epiblast-like gene expression. The genes expressed differentially between these two populations were well preserved in morphologically differentiated PE and epiblast in the embryos one day later (E4.5), demonstrating that the method successfully detects subtle but essential differences in gene expression at the single-cell level among seemingly homogeneous cell populations. This study provides a strategy to analyze biophysical events in medicine as well as in neural, stem cell and developmental biology, where small numbers of distinctive or diseased cells play critical roles.
Rogers Leonard - One of the best experts on this subject based on the ideXlab platform.
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Microarray Analysis of global gene regulation in the cry1ab resistant and cry1ab susceptible strains of diatraea saccharalis
2012Co-Authors: Fangneng Huang, Randall Luttrell, Rogers LeonardAbstract:BACKGROUND: Extensive adoption of transgenic Bt corn in recent years for stalk borer control has increased risk of resistance evolution in the target pest populations. A Bt-resistant strain of the sugarcane borer, Diatraea saccharalis, was approximately 100-fold more tolerant to Cry1Ab toxin than the susceptible counterpart. To gain a better understanding of the molecular mechanisms of Bt resistance, the Cry1Ab-susceptible (Cry1Ab-SS) and Cry1Ab-resistant (Cry1Ab-RR) strains of D. saccharalis were subjected to a Microarray Analysis. RESULTS: Results showed that the expression levels of many genes were significantly different between the Cry1Ab-RR and Cry1Ab-SS strains. Microarray Analysis of 7145 cDNAs revealed 384 differentially expressed genes. A total of 273 genes were significantly upregulated 2–51.6-fold, and 111 genes were significantly downregulated 2–22.6-fold in the Cry1Ab-RR strain. The upregulation of three potential resistance-related genes, coding for a glutathione S-transferase (GST), a chymotrypsin-like protease (CHY) and a lipase (LP), was confirmed using real-time PCR, indicating a reproducibility of the Microarray data. Ontology Analysis revealed that more than twice the number of metabolic-related genes were upregulated compared with downregulated genes with the same biological function. Up to 35.2% of the upregulated genes in the resistant strain were associated with catalytic activity, while only 9.5% of the downregulated genes were related to the same catalytic molecular function. CONCLUSION: The large portion of metabolic- or catalytic-related genes with significant upregulations indicated a potential large increase in metabolic or catalytic activities in the Cry1Ab-RR strain. This cDNA Microarray gene expression data could be used to characterize and identify new genes that may be associated with Bt resistance in D. saccharalis. Copyright © 2012 Society of Chemical Industry
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Microarray Analysis of global gene regulation in the cry1ab resistant and cry1ab susceptible strains of diatraea saccharalis
2012Co-Authors: Zibiao Guo, Fangneng Huang, Randall Luttrell, Yu Cheng Zhu, Rogers LeonardAbstract:BACKGROUND: Extensive adoption of transgenic Bt corn in recent years for stalk borer control has increased risk of resistance evolution in the target pest populations. A Bt-resistant strain of the sugarcane borer, Diatraea saccharalis, was approximately 100-fold more tolerant to Cry1Ab toxin than the susceptible counterpart. To gain a better understanding of the molecular mechanisms of Bt resistance, the Cry1Ab-susceptible (Cry1Ab-SS) and Cry1Ab-resistant (Cry1Ab-RR) strains of D. saccharalis were subjected to a Microarray Analysis. RESULTS: Results showed that the expression levels of many genes were significantly different between the Cry1Ab-RR and Cry1Ab-SS strains. Microarray Analysis of 7145 cDNAs revealed 384 differentially expressed genes. A total of 273 genes were significantly upregulated 2–51.6-fold, and 111 genes were significantly downregulated 2–22.6-fold in the Cry1Ab-RR strain. The upregulation of three potential resistance-related genes, coding for a glutathione S-transferase (GST), a chymotrypsin-like protease (CHY) and a lipase (LP), was confirmed using real-time PCR, indicating a reproducibility of the Microarray data. Ontology Analysis revealed that more than twice the number of metabolic-related genes were upregulated compared with downregulated genes with the same biological function. Up to 35.2% of the upregulated genes in the resistant strain were associated with catalytic activity, while only 9.5% of the downregulated genes were related to the same catalytic molecular function. CONCLUSION: The large portion of metabolic- or catalytic-related genes with significant upregulations indicated a potential large increase in metabolic or catalytic activities in the Cry1Ab-RR strain. This cDNA Microarray gene expression data could be used to characterize and identify new genes that may be associated with Bt resistance in D. saccharalis. Copyright © 2012 Society of Chemical Industry
Kazuki Kurimoto - One of the best experts on this subject based on the ideXlab platform.
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Global single-cell cDNA amplification to provide a template for representative high-density oligonucleotide Microarray Analysis.
2007Co-Authors: Kazuki Kurimoto, Yukihiro Yabuta, Yasuhide Ohinata, Mitinori SaitouAbstract:Global single-cell cDNA amplification to provide a template for representative high-density oligonucleotide Microarray Analysis
-
an improved single cell cdna amplification method for efficient high density oligonucleotide Microarray Analysis
2006Co-Authors: Kazuki Kurimoto, Yukihiro Yabuta, Yasuhide Ohinata, Rikuhiro G Yamada, Hiroki R Ueda, Mitinori SaitouAbstract:A systems-level understanding of a small but essential population of cells in development or adulthood (e.g. somatic stem cells) requires accurate quantitative monitoring of genome-wide gene expression, ideally from single cells. We report here a strategy to globally amplify mRNAs from single cells for highly quantitative high-density oligonucleotide Microarray Analysis that combines a small number of directional PCR cycles with subsequent linear amplification. Using this strategy, both the representation of gene expression profiles and reproducibility between individual experiments are unambiguously improved from the original method, along with high coverage and accuracy. The immediate application of this method to single cells in the undifferentiated inner cell masses of mouse blastocysts at embryonic day (E) 3.5 revealed the presence of two populations of cells, one with primitive endoderm (PE) expression and the other with pluripotent epiblast-like gene expression. The genes expressed differentially between these two populations were well preserved in morphologically differentiated PE and epiblast in the embryos one day later (E4.5), demonstrating that the method successfully detects subtle but essential differences in gene expression at the single-cell level among seemingly homogeneous cell populations. This study provides a strategy to analyze biophysical events in medicine as well as in neural, stem cell and developmental biology, where small numbers of distinctive or diseased cells play critical roles.
Edna Grunblatt - One of the best experts on this subject based on the ideXlab platform.
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High-resolution chromosomal Microarray Analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability
2020Co-Authors: Anna Maria Werling, Edna Grunblatt, Beatrice Oneda, Marcel Romanos, Anita Rauch, Elise Bobrowski, Ronnie Gundelfinger, Regina Taurines, Susanne WalitzaAbstract:Copy-number variants (CNVs), in particular rare, small and large ones ( 1 Mb) CNVs as reported in ASD and ID. We performed high-resolution chromosomal Microarray Analysis in 108 children and adolescents with HFA without ID. There was no significant difference in the overall number of rare CNVs compared to 124 random population samples. However, patients with HFA carried significantly more frequently CNVs containing brain-related genes. Surprisingly, six HFA patients carried very large CNVs known to be typically present in ID. Our findings provide new evidence that not only small, but also large CNVs affecting several key genes contribute to the genetic etiology/risk of HFA without affecting their intellectual ability.
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high resolution chromosomal Microarray Analysis in paediatric obsessive compulsive disorder
2017Co-Authors: Edna Grunblatt, Beatrice Oneda, Arif B Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch, Susanne WalitzaAbstract:Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO), the patients manifest a more severe phenotype, and an increased heritability. Large (>500 kb) copy number variations (CNVs) previously associated with autism and schizophrenia have been reported in OCD. Recently, rare CNVs smaller than 500 kb overlapping risk loci for other neurodevelopmental conditions have also been reported in OCD, stressing the importance of examining CNVs of any size range. The aim of this study was to further investigate the role of rare and small CNVs in the aetiology of EO-OCD. We performed high-resolution chromosomal Microarray Analysis in 121 paediatric OCD patients and in 124 random controls to identify rare CNVs (>50 kb) which might contribute to EO-OCD. The frequencies and the size of the observed rare CNVs in the patients did not differ from the controls. However, we observed a significantly higher frequency of rare CNVs affecting brain related genes, especially deletions, in the patients (OR = 1.98, 95% CI 1.02–3.84; OR = 3.61, 95% CI 1.14–11.41, respectively). Similarly, enrichment-Analysis of CNVs gene content, performed with three independent methods, confirmed significant clustering of predefined genes involved in synaptic/brain related functional pathways in the patients but not in the controls. In two patients we detected de-novo CNVs encompassing genes previously associated with different neurodevelopmental disorders (NRXN1, ANKS1B, UHRF1BP1). Our results further strengthen the role of small rare CNVs, particularly deletions, as susceptibility factors for paediatric OCD.