Bez nadpisu - Univerzita Karlova v Praze
... certain HLA molecules may have a substantial modifying effect on HAE phenotype further analyses of the larger number of patients are required to confirm this hypothesis other genes being in a linkage disequilibrium with the MHC locus may play a role in clinical manifestation of HAE (C4?) ...
... certain HLA molecules may have a substantial modifying effect on HAE phenotype further analyses of the larger number of patients are required to confirm this hypothesis other genes being in a linkage disequilibrium with the MHC locus may play a role in clinical manifestation of HAE (C4?) ...
Microsoft Word 97 - 2003 Document
... known as gene linkage. When two homologous chromosomes pair up during meiosis, the gene pairs controlling the same traits end up being opposite to each other on the different chromosomes. When Mendel formulated his law or principle of Independent Assortment, he was fortunate to have chosen traits wh ...
... known as gene linkage. When two homologous chromosomes pair up during meiosis, the gene pairs controlling the same traits end up being opposite to each other on the different chromosomes. When Mendel formulated his law or principle of Independent Assortment, he was fortunate to have chosen traits wh ...
Why Gene Duplication? ,
... copies of a pair of genes for 18S and 28S ribosomal RNA (BROWN and DAWID, 1968). However, it should be remembered that the genome size (the haploid DNA content) of Xenopus laevis is 30 or 40 times greater than the genome size of Drosophila melanogaster; therefore, it appears that in proportion to th ...
... copies of a pair of genes for 18S and 28S ribosomal RNA (BROWN and DAWID, 1968). However, it should be remembered that the genome size (the haploid DNA content) of Xenopus laevis is 30 or 40 times greater than the genome size of Drosophila melanogaster; therefore, it appears that in proportion to th ...
Developmental Psychobiology - Champagne Lab
... offspring development. This article shall review four major sources of such parentof-origin effects. Firstly, there is increasing evidence that genes inherited on the sex chromosomes including the nonpseudoautosomal part of the Y chromosome that is only inherited from fathers to sons, contribute to ...
... offspring development. This article shall review four major sources of such parentof-origin effects. Firstly, there is increasing evidence that genes inherited on the sex chromosomes including the nonpseudoautosomal part of the Y chromosome that is only inherited from fathers to sons, contribute to ...
West Nile Neuroinvasive Disease Case Definitions Reproduced
... Forming Panel C: the unphased experimental case-control study panel The study panel genotypes data which reference genotypes were imputed was formed from the intersection of Omni1-Quad and 1M-Duo sites for a combined total of 406 cases and 456 controls at 567,558 sites. Standard quality control proc ...
... Forming Panel C: the unphased experimental case-control study panel The study panel genotypes data which reference genotypes were imputed was formed from the intersection of Omni1-Quad and 1M-Duo sites for a combined total of 406 cases and 456 controls at 567,558 sites. Standard quality control proc ...
Transcriptional Functionality of Germ Line p53 Mutants Influences
... associated diseases has not been assessed. In contrast with other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types (19). The seven most frequent tumor types (described below) account for f72% of the reported cases. ...
... associated diseases has not been assessed. In contrast with other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types (19). The seven most frequent tumor types (described below) account for f72% of the reported cases. ...
Peer-reviewed Article PDF
... In addition to conventional gene therapy, some studies with heterologous therapy (PAH expression in tissues other than liver) have been developed for PKU. According to this strategy, epidermal keratinocytes and dermal fibroblasts were engineered by transducing retroviral vectors expressing genes cod ...
... In addition to conventional gene therapy, some studies with heterologous therapy (PAH expression in tissues other than liver) have been developed for PKU. According to this strategy, epidermal keratinocytes and dermal fibroblasts were engineered by transducing retroviral vectors expressing genes cod ...
The Aspergillus Genome Database, a curated comparative
... (GO) (5) annotations using orthology mappings between this gene set and experimentally characterized genes of Saccharomyces cerevisiae. We have also begun manual curation of gene descriptions, gene product functions and localization, mutant phenotypes and comprehensive reference lists from the A. ni ...
... (GO) (5) annotations using orthology mappings between this gene set and experimentally characterized genes of Saccharomyces cerevisiae. We have also begun manual curation of gene descriptions, gene product functions and localization, mutant phenotypes and comprehensive reference lists from the A. ni ...
1 Characterization of the p.Q189X nonsense mutation in dpy
... heterozygous hermaphrodite worm that was phenotypically WT for each marker strain. Four replicates of each strain were created. A total of 3086 F2 worm progeny was scored randomly across all 20 selfcrosses. It was found that the dpy gene of interest is on the same chromosome as unc-32, indicating th ...
... heterozygous hermaphrodite worm that was phenotypically WT for each marker strain. Four replicates of each strain were created. A total of 3086 F2 worm progeny was scored randomly across all 20 selfcrosses. It was found that the dpy gene of interest is on the same chromosome as unc-32, indicating th ...
Recurrent patterns of DNA copy number alterations in tumors reflect
... recurrently altered regions were highlighted, including through cross-species analyses, which contain in addition to wellestablished cancer drivers 8 enzymes of the glycolysis pathway. Correlation of recurrent CNA profiles with glycolysis is seen in human and mouse tumors, and additionally in a mous ...
... recurrently altered regions were highlighted, including through cross-species analyses, which contain in addition to wellestablished cancer drivers 8 enzymes of the glycolysis pathway. Correlation of recurrent CNA profiles with glycolysis is seen in human and mouse tumors, and additionally in a mous ...
Genome position and gene amplification | SpringerLink
... context on amplification in human cells, we chose methotrexate resistance as the model system, because clinical resistance to methotrexate targets a number of genes by a variety of mechanisms [15,16], thereby providing the opportunity to determine which types of aberration occur more frequently in d ...
... context on amplification in human cells, we chose methotrexate resistance as the model system, because clinical resistance to methotrexate targets a number of genes by a variety of mechanisms [15,16], thereby providing the opportunity to determine which types of aberration occur more frequently in d ...
Karyotype, ploidy, and gene dosage
... LGI and LGV; left end of LGII, LGIII, LGIV, LGX). The absence of a defined centromere means that the genetic maps for each chromosome were plotted around arbitrarily chosen zero points, in the approximate middle of each chromosome. Genes to the left of this point were given negative coordinates, and ...
... LGI and LGV; left end of LGII, LGIII, LGIV, LGX). The absence of a defined centromere means that the genetic maps for each chromosome were plotted around arbitrarily chosen zero points, in the approximate middle of each chromosome. Genes to the left of this point were given negative coordinates, and ...
Gene Section DHX9 (DEAH (Asp Glu Ala
... necessary for early embryonic development in mice. It was also suggested that DHX9 is required for the survival and differentiation of embryonic ectoderm. DHX9 maps to chromosome 1q25 near a major susceptibility locus for prostate cancer. ...
... necessary for early embryonic development in mice. It was also suggested that DHX9 is required for the survival and differentiation of embryonic ectoderm. DHX9 maps to chromosome 1q25 near a major susceptibility locus for prostate cancer. ...
Marjan Huizing, PhD Czeck it out: Growing up with Hermansky and
... mutations in AP3B1, establishing HPS-2 as a distinct disorder (7,8). In 2002, we identified another patient with this HPS subtype (9). The discovery of an AP3 subunit causing HPS further emphasized that the organelles affected in HPS patients were of the lysosomal lineage, including melanosomes, pl ...
... mutations in AP3B1, establishing HPS-2 as a distinct disorder (7,8). In 2002, we identified another patient with this HPS subtype (9). The discovery of an AP3 subunit causing HPS further emphasized that the organelles affected in HPS patients were of the lysosomal lineage, including melanosomes, pl ...
Microarray statistical validation and functional annotation
... biologically meaningful genes can be lost making more difficult to role out functional correlations between the differentially expressed genes. If the stringency of the statistical validation is too loose the increase of false positives creates background noise from which is difficult to extract tru ...
... biologically meaningful genes can be lost making more difficult to role out functional correlations between the differentially expressed genes. If the stringency of the statistical validation is too loose the increase of false positives creates background noise from which is difficult to extract tru ...
Carroll 2006 Fossil Genes
... was dispensable for these rodentlike creatures' lifestyles. Nocturnality has evolved repeatedly in mammals, so one way of testing this theory, and the general idea of gene fossilization linked to shifts in lifestyle, is to examine more recent species with markedly different lifestyles. The owl monke ...
... was dispensable for these rodentlike creatures' lifestyles. Nocturnality has evolved repeatedly in mammals, so one way of testing this theory, and the general idea of gene fossilization linked to shifts in lifestyle, is to examine more recent species with markedly different lifestyles. The owl monke ...
Soft inheritance: Challenging the Modern Synthesis
... word for ‘monster’. Enrico Coen and his colleagues investigated the molecular basis of Peloria by looking at Lcyc, the homologue of a gene that in other plants is known to control dorso-ventral asymmetry and, when mutated, leads to a similar morphological phenotype (Cubas et al., 1999). They found t ...
... word for ‘monster’. Enrico Coen and his colleagues investigated the molecular basis of Peloria by looking at Lcyc, the homologue of a gene that in other plants is known to control dorso-ventral asymmetry and, when mutated, leads to a similar morphological phenotype (Cubas et al., 1999). They found t ...
Genetic analysis of TTF2 gene in congenital hypothyroid infants with
... is caused by an alteration in the morphogenesis of the thyroid which is called thyroid dysgenesis, TD.6 These anomalies including thyroid (hemi) agenesis (the thyroid gland is absent so called ‘athyrosis’ and ‘hemithyroidoea’), ectopic thyroid tissue (the thyroid gland is abnormally located in a sub ...
... is caused by an alteration in the morphogenesis of the thyroid which is called thyroid dysgenesis, TD.6 These anomalies including thyroid (hemi) agenesis (the thyroid gland is absent so called ‘athyrosis’ and ‘hemithyroidoea’), ectopic thyroid tissue (the thyroid gland is abnormally located in a sub ...
Overexpression of the catalytic subunit of DNA polymerase results in
... biogenesis program, and terminally differentiated cells, particularly those with higher oxidative load, do not receive the correct number of functional mitochondria to meet their demand for energy production. To gain further insight into the physiological regulation of the mtDNA replication process, ...
... biogenesis program, and terminally differentiated cells, particularly those with higher oxidative load, do not receive the correct number of functional mitochondria to meet their demand for energy production. To gain further insight into the physiological regulation of the mtDNA replication process, ...
Preneoplastic Lesions of the Lung
... Pulmonary neuroendocrine cells (PNECs) are nonciliated, and conical or spindle-shaped, and extend from the basement membrane to just below the airway lumen. They can be basally oriented dendritic cells that extend along the basement membrane between adjacent airway epithelial cells. Their most disti ...
... Pulmonary neuroendocrine cells (PNECs) are nonciliated, and conical or spindle-shaped, and extend from the basement membrane to just below the airway lumen. They can be basally oriented dendritic cells that extend along the basement membrane between adjacent airway epithelial cells. Their most disti ...
Gene Rearrangement Analysis and Ancestral Order Inference from
... Mutations in a genome consist of not only base pair level changes but also events that alter the chromosome structure, such as inversions, duplications or deletions [1]. Ancestral gene sequence inference has led to significant predictions of protein functional shift and positive selection [2]. For e ...
... Mutations in a genome consist of not only base pair level changes but also events that alter the chromosome structure, such as inversions, duplications or deletions [1]. Ancestral gene sequence inference has led to significant predictions of protein functional shift and positive selection [2]. For e ...
Gene Section BEX1 (brain expressed, X-linked 1) Atlas of Genetics and Cytogenetics
... BEX1 plays a role in cell cycle progression as Bex1 levels oscillated during the cell cycle (Vilar et al., 2006). BEX1 also participates in neuronal differentiation (Vilar et al., 2006). Nerve growth factor (NGF) is a member of the neurotrophin family proteins that mediate survival, growth and diffe ...
... BEX1 plays a role in cell cycle progression as Bex1 levels oscillated during the cell cycle (Vilar et al., 2006). BEX1 also participates in neuronal differentiation (Vilar et al., 2006). Nerve growth factor (NGF) is a member of the neurotrophin family proteins that mediate survival, growth and diffe ...
Oncogenomics
Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.