The Experts below are selected from a list of 144336 Experts worldwide ranked by ideXlab platform
Masaru Katoh - One of the best experts on this subject based on the ideXlab platform.
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Molecular cloning and expression of mouse Wnt14, and structural comparison between mouse Wnt14-Wnt3a Gene Cluster and human WNT14-WNT3A Gene Cluster.
International journal of molecular medicine, 2002Co-Authors: Masaru KatohAbstract:Glycoprotein WNTs play key roles in carcinoGenesis and embryoGenesis. Human WNT14 and WNT3A Genes are Clustered in human chromosome 1q42 region with an interval of about 58 kb. Here, mouse Wnt14 was isolated to compare the structure of human WNT14-WNT3A Gene Cluster with that of mouse Wnt14-Wnt3a Gene Cluster. Mouse Wnt14 showed 98.1% total-amino-acid identity with human WNT14, and 61.9% total-amino-acid identity with human WNT14B/WNT15. Mouse Wnt14 mRNA was expressed in adult brain, lung, skeletal muscle, heart, and 17-day embryo. Mouse Wnt14 and Wnt3a Genes were Clustered in head-to-head manner with an interval of about 16 kb. Exon-intron structures were well conserved between human WNT14-WNT3A Gene Cluster and mouse Wnt14-Wnt3a Gene Cluster. Capicua-related sequence and AK024248-related sequence were identified in the intergenic region of human Wnt14-Wnt3a Gene Cluster as well as in other human chromosomal loci, but not in that of mouse Wnt14-Wnt3a Gene Cluster. Capicua-related sequences were pseudoGenes derived from Capicua Gene on human chromosome 19q13. Capicua pseudoGene and AK024248-related sequence were Clustered in tail-to-tail manner with interval ranging from 2.2 to 11.0 kb. AK024248-related sequences in several human genome draft sequences were truncated in the 3'-portion compared with that in the intergenic region of human WNT14-WNT3A Gene Cluster. This is the first report on structural comparison of WNT Gene Clusters in human genome and in mouse genome.
Jinlong Zhang - One of the best experts on this subject based on the ideXlab platform.
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Characterization of the xiamenmycin biosynthesis Gene Cluster in Streptomyces xiamenensis 318. PLoS One 2014
2016Co-Authors: Yong Yang, Jinlong ZhangAbstract:Xiamenmycin (1) is a prenylated benzopyran derivative with anti-fibrotic activity. To investigate the Genetic basis of xiamenmycin biosynthesis, we performed genome mining in the xiamenmycin-producing Streptomyces xiamenensis wild-type strain 318 to identify a candidate Gene Cluster. The complete Gene Cluster, consisting of five Genes, was confirmed by a series of Gene inactivations and heterologous expression. Based on bioinformatics analyses of each Gene and feeding experiments, we found that the structure of an intermediate xiamenmycin B (3) accumulated in a ximA inactivation mutant, allowing us to propose a biosynthetic pathway. All five of the Genes in the pathway were Genetically and biochemically characterized. XimA was biochemically characterized as an ATP-dependent amide synthetase, catalyzing an amide bond formation in the presence of ATP as the final step in Xiamenmycin biosynthesis. The Km value of XimA was determined to be 474.38 mM for the substrate xiamenmycin B. These studies provide opportunities to use Genetic and chemo-enzymati
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Characterization of the xiamenmycin biosynthesis Gene Cluster in Streptomyces xiamenensis 318.
PLOS ONE, 2014Co-Authors: Yong Yang, Jinlong ZhangAbstract:Xiamenmycin (1) is a prenylated benzopyran derivative with anti-fibrotic activity. To investigate the Genetic basis of xiamenmycin biosynthesis, we performed genome mining in the xiamenmycin-producing Streptomyces xiamenensis wild-type strain 318 to identify a candidate Gene Cluster. The complete Gene Cluster, consisting of five Genes, was confirmed by a series of Gene inactivations and heterologous expression. Based on bioinformatics analyses of each Gene and feeding experiments, we found that the structure of an intermediate xiamenmycin B (3) accumulated in a ximA inactivation mutant, allowing us to propose a biosynthetic pathway. All five of the Genes in the pathway were Genetically and biochemically characterized. XimA was biochemically characterized as an ATP-dependent amide synthetase, catalyzing an amide bond formation in the presence of ATP as the final step in Xiamenmycin biosynthesis. The Km value of XimA was determined to be 474.38 µM for the substrate xiamenmycin B. These studies provide opportunities to use Genetic and chemo-enzymatic methods to create new benzopyran derivatives as potential therapeutic agents.
Amy Tolin - One of the best experts on this subject based on the ideXlab platform.
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sequence variants in toll like receptor Gene Cluster tlr6 tlr1 tlr10 and prostate cancer risk
Journal of the National Cancer Institute, 2005Co-Authors: Fredrik Wiklund, Lilly S Zheng, Baoli Chang, Katarina Balter, Janerik Johansson, Hans-olov Adami, Liwu Li, Ge Li, Amy TolinAbstract:BACKGROUND: Chronic inflammation plays an important role in several human cancers and may be involved in the etiology of prostate cancer. Toll-like receptors (TLRs) are important in the innate immune response to pathogens and in cross-talk between innate immunity and adaptive immunity. Our previous finding of an association of TLR4 Gene sequence variants and prostate cancer risk provides evidence for a role of TLRs in prostate cancer. In this study, we investigated whether sequence variants in the TLR6-TLR1-TLR10 Gene Cluster, residing within a 54-kb region on 4p14, were associated with prostate cancer risk. METHODS: We selected 32 single-nucleotide polymorphisms (SNPs) covering these three Genes and genotyped these SNPs in 96 control subjects from the Cancer Prostate in Sweden (CAPS) population-based prostate cancer case-control study. Five distinct haplotype blocks were inferred at this region, and we identified 17 haplotype-tagging SNPs (htSNPs) that could uniquely describe >95% of the haplotypes. These 17 htSNPs were then genotyped in the entire CAPS study population (1383 case subjects and 780 control subjects). Odds ratios of prostate cancer for the carriers of a variant allele versus those with the wild-type allele were estimated using unconditional logistic regression. RESULTS: The allele frequencies of 11 of the 17 SNPs were statistically significantly different between case and control subjects (P = .04-.001), with odds ratios for variant allele carriers (homozygous or heterozygous) compared with wild-type allele carriers ranging from 1.20 (95% confidence interval [CI] = 1.00 to 1.43) to 1.38 (95% CI = 1.12 to 1.70). PhyloGenetic tree analyses of common haplotypes identified a clade of two evolutionarily related haplotypes that are statistically significantly associated with prostate cancer risk. These two haplotypes contain all the risk alleles of these 11 associated SNPs. CONCLUSION: The observed multiple associated SNPs at the TLR6-TLR1-TLR10 Gene Cluster were dependent and suggest the presence of a founder prostate cancer risk variant on this haplotype background. The TLR6-TLR1-TLR10 Gene Cluster may play a role in prostate cancer risk, although further functional studies are needed to pinpoint the disease-associated variants in this Gene Cluster.
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sequence variants in toll like receptor Gene Cluster tlr6 tlr1 tlr10 and prostate cancer risk
Journal of the National Cancer Institute, 2005Co-Authors: Jielin Sun, Lilly S Zheng, Baoli Chang, Katarina Balter, Fredrik Wiklund, Janerik Johansson, Hans-olov Adami, Wennuan Liu, Amy TolinAbstract:Sequence variants in Toll-like receptor Gene Cluster (TLR6-TLR1-TLR10) and prostate cancer risk
Janerik Johansson - One of the best experts on this subject based on the ideXlab platform.
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sequence variants in toll like receptor Gene Cluster tlr6 tlr1 tlr10 and prostate cancer risk
Journal of the National Cancer Institute, 2005Co-Authors: Fredrik Wiklund, Lilly S Zheng, Baoli Chang, Katarina Balter, Janerik Johansson, Hans-olov Adami, Liwu Li, Ge Li, Amy TolinAbstract:BACKGROUND: Chronic inflammation plays an important role in several human cancers and may be involved in the etiology of prostate cancer. Toll-like receptors (TLRs) are important in the innate immune response to pathogens and in cross-talk between innate immunity and adaptive immunity. Our previous finding of an association of TLR4 Gene sequence variants and prostate cancer risk provides evidence for a role of TLRs in prostate cancer. In this study, we investigated whether sequence variants in the TLR6-TLR1-TLR10 Gene Cluster, residing within a 54-kb region on 4p14, were associated with prostate cancer risk. METHODS: We selected 32 single-nucleotide polymorphisms (SNPs) covering these three Genes and genotyped these SNPs in 96 control subjects from the Cancer Prostate in Sweden (CAPS) population-based prostate cancer case-control study. Five distinct haplotype blocks were inferred at this region, and we identified 17 haplotype-tagging SNPs (htSNPs) that could uniquely describe >95% of the haplotypes. These 17 htSNPs were then genotyped in the entire CAPS study population (1383 case subjects and 780 control subjects). Odds ratios of prostate cancer for the carriers of a variant allele versus those with the wild-type allele were estimated using unconditional logistic regression. RESULTS: The allele frequencies of 11 of the 17 SNPs were statistically significantly different between case and control subjects (P = .04-.001), with odds ratios for variant allele carriers (homozygous or heterozygous) compared with wild-type allele carriers ranging from 1.20 (95% confidence interval [CI] = 1.00 to 1.43) to 1.38 (95% CI = 1.12 to 1.70). PhyloGenetic tree analyses of common haplotypes identified a clade of two evolutionarily related haplotypes that are statistically significantly associated with prostate cancer risk. These two haplotypes contain all the risk alleles of these 11 associated SNPs. CONCLUSION: The observed multiple associated SNPs at the TLR6-TLR1-TLR10 Gene Cluster were dependent and suggest the presence of a founder prostate cancer risk variant on this haplotype background. The TLR6-TLR1-TLR10 Gene Cluster may play a role in prostate cancer risk, although further functional studies are needed to pinpoint the disease-associated variants in this Gene Cluster.
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sequence variants in toll like receptor Gene Cluster tlr6 tlr1 tlr10 and prostate cancer risk
Journal of the National Cancer Institute, 2005Co-Authors: Jielin Sun, Lilly S Zheng, Baoli Chang, Katarina Balter, Fredrik Wiklund, Janerik Johansson, Hans-olov Adami, Wennuan Liu, Amy TolinAbstract:Sequence variants in Toll-like receptor Gene Cluster (TLR6-TLR1-TLR10) and prostate cancer risk
Bernd Wissinger - One of the best experts on this subject based on the ideXlab platform.
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a 73 128 bp de novo deletion encompassing the opn1lw opn1mw Gene Cluster in sporadic blue cone monochromacy a case report
BMC Medical Genetics, 2018Co-Authors: Elena Buenaatienza, Fadi Nasser, Susanne Kohl, Bernd WissingerAbstract:Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin Gene Cluster including deletions of the locus control region (LCR) and/or parts of the Gene Cluster. We aimed at investigating the clinical presentation, Genetic cause and inheritance underlying a sporadic case of BCM. We report a 24-year-old male presenting with congenital photophobia, nystagmus and colour vision abnormalities. There was no history of retinal dystrophy in the family. Clinical diagnosis of BCM was supported by Genetic investigations of the patient and his family members. Molecular Genetic analysis of the OPN1LW/OPN1MW Gene Cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. The deletion was absent in the X-chromosomes of both the mother and transmitting grandfather. The present report provides the clinical findings and the Genetic basis underlying a sporadic BCM case which is caused by a de novo deletion within the OPN1LW/MW Gene Cluster originating from the mother’s germline due to Alu-repeat mediated recombination. This is the first report of a de novo deletion resulting in BCM, highlighting the importance to consider BCM and perform Genetic testing for this condition in male patients with cone dysfunction also in the absence of a positive family history.
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A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW Gene Cluster in sporadic Blue Cone Monochromacy: a case report
BMC Medical Genetics, 2018Co-Authors: Elena Buena-atienza, Fadi Nasser, Susanne Kohl, Bernd WissingerAbstract:Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin Gene Cluster including deletions of the locus control region (LCR) and/or parts of the Gene Cluster. We aimed at investigating the clinical presentation, Genetic cause and inheritance underlying a sporadic case of BCM. We report a 24-year-old male presenting with congenital photophobia, nystagmus and colour vision abnormalities. There was no history of retinal dystrophy in the family. Clinical diagnosis of BCM was supported by Genetic investigations of the patient and his family members. Molecular Genetic analysis of the OPN1LW/OPN1MW Gene Cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. The deletion was absent in the X-chromosomes of both the mother and transmitting grandfather. The present report provides the clinical findings and the Genetic basis underlying a sporadic BCM case which is caused by a de novo deletion within the OPN1LW/MW Gene Cluster originating from the mother’s germline due to Alu-repeat mediated recombination. This is the first report of a de novo deletion resulting in BCM, highlighting the importance to consider BCM and perform Genetic testing for this condition in male patients with cone dysfunction also in the absence of a positive family history.
