The reverse control of irreversible biological processes
... Cells handle environmental changes through various signal transduction pathways, which forms a signaling network. In addition, proteins are expressed from genes, and genes are regulated by proteins such as transcription factors. The relationship between proteins and genes can therefore be abstracted ...
... Cells handle environmental changes through various signal transduction pathways, which forms a signaling network. In addition, proteins are expressed from genes, and genes are regulated by proteins such as transcription factors. The relationship between proteins and genes can therefore be abstracted ...
Genomic gains and losses influence expression levels of genes
... as compared to all other subtypes, were equally distributed over the genome in AML subgroups with trisomies. In contrast, 30 and 86% of the most differentially expressed genes characteristic for AML with 5q deletion and monosomy 7 are located on chromosomes 5 or 7. In conclusion, gain of whole chrom ...
... as compared to all other subtypes, were equally distributed over the genome in AML subgroups with trisomies. In contrast, 30 and 86% of the most differentially expressed genes characteristic for AML with 5q deletion and monosomy 7 are located on chromosomes 5 or 7. In conclusion, gain of whole chrom ...
Clinical Genetic Basis of Tooth Agenesis (PDF Available)
... Of the seven identified missense mutations, one is a premature termination mutation , and the remaining six are all residue substitution mutations. Of these substitution mutations, only five generate a substitution in the protein , with one believed to prevent PAX9 expression. Three frame-shift muta ...
... Of the seven identified missense mutations, one is a premature termination mutation , and the remaining six are all residue substitution mutations. Of these substitution mutations, only five generate a substitution in the protein , with one believed to prevent PAX9 expression. Three frame-shift muta ...
Leptin
... Prader-(Labhart)-Willi syndrome The incidence：1 in 25,000 and 1 in 10,000 live births. The paternal origin; particular region of ch.15 involved; parent of origin imprinting, i.e. for a number of genes in this region only one copy of the gene is expressed while the other is silenced through imprinti ...
... Prader-(Labhart)-Willi syndrome The incidence：1 in 25,000 and 1 in 10,000 live births. The paternal origin; particular region of ch.15 involved; parent of origin imprinting, i.e. for a number of genes in this region only one copy of the gene is expressed while the other is silenced through imprinti ...
Neurogenetics User Manual
... ** All prices quoted are for NHS routine postnatal diagnostic tests, please contact the laboratory for price details on all other types of test. ***Please note that at present we have a backlog of samples waiting for NGS panel testing and the turnaround time for these tests is between 4 and 6 months ...
... ** All prices quoted are for NHS routine postnatal diagnostic tests, please contact the laboratory for price details on all other types of test. ***Please note that at present we have a backlog of samples waiting for NGS panel testing and the turnaround time for these tests is between 4 and 6 months ...
The Fifties and the Renaissance in Human and
... be limited to only three of the 22 autosomes, an alternative explanation for the failure to observe most trisomies or monosomies gained favor: that most of these severe chromosome imbalances have lethal effects during embryonic or fetal development. Indeed, PENROSE and DELHANTY ( 1961) had found ama ...
... be limited to only three of the 22 autosomes, an alternative explanation for the failure to observe most trisomies or monosomies gained favor: that most of these severe chromosome imbalances have lethal effects during embryonic or fetal development. Indeed, PENROSE and DELHANTY ( 1961) had found ama ...
History of Disease Gene Mapping
... “common disease-common variant model … genome-wide association studies (GWAS) have published hundreds of common variants whose allele frequencies are statistically correlated with various illnesses and traits. However, the vast majority of such variants have no established biological relevance to di ...
... “common disease-common variant model … genome-wide association studies (GWAS) have published hundreds of common variants whose allele frequencies are statistically correlated with various illnesses and traits. However, the vast majority of such variants have no established biological relevance to di ...
An Investigation of Codon Usage Bias Including
... are not the only biases found in prokaryotic and small eukaryotic genomes. They can also be affected by such biases as those introduced by high or low GC-content [2]. In some cases these biases can coexist with translation bias [2, 8]. When this occurs translation bias can be obscured, making gene e ...
... are not the only biases found in prokaryotic and small eukaryotic genomes. They can also be affected by such biases as those introduced by high or low GC-content [2]. In some cases these biases can coexist with translation bias [2, 8]. When this occurs translation bias can be obscured, making gene e ...
unique features of the plant life cycle and their consequences
... can undergo meiosis to produce eggs and sperm. Germcell specification occurs by several mechanisms, including the differential distribution of material stored in the egg (in worms and flies) and fate decisions at the time of gastrulation (in mammals)26,27. By contrast, the stemcell population that d ...
... can undergo meiosis to produce eggs and sperm. Germcell specification occurs by several mechanisms, including the differential distribution of material stored in the egg (in worms and flies) and fate decisions at the time of gastrulation (in mammals)26,27. By contrast, the stemcell population that d ...
Davies, Kelli: Eukaryotic Gene Prediction
... discovery. Once genes are identified, further analysis of the coding sequence can be used to identify protein domains to help illuminate function and determine candidates for further study. Homologs in different organisms can be identified via sequence alignment and then further studies can be condu ...
... discovery. Once genes are identified, further analysis of the coding sequence can be used to identify protein domains to help illuminate function and determine candidates for further study. Homologs in different organisms can be identified via sequence alignment and then further studies can be condu ...
GENERATION OF BANK POST-TRANSCRIPTIONAL FUSIONS OF
... A bank of mutants can be developed by use of transposons. A transposon is a mobile genetic element that can move from a genomic location to another, thanks to the presence of short repeated sequences that flank and which is capable of replicating and inserting a copy in a new location in the genome. ...
... A bank of mutants can be developed by use of transposons. A transposon is a mobile genetic element that can move from a genomic location to another, thanks to the presence of short repeated sequences that flank and which is capable of replicating and inserting a copy in a new location in the genome. ...
Tracking the evolution of 3D gene organization demonstrates its
... (6,7,11) and TF binding sites (8,12). In addition, genes encoding interacting proteins, that form protein complexes and genes along the same pathway have been shown to be co-localized in 3D in human (10). Chromosomes’ 3D conformation has been shown to be related to tissue-specific regulation (13,14) ...
... (6,7,11) and TF binding sites (8,12). In addition, genes encoding interacting proteins, that form protein complexes and genes along the same pathway have been shown to be co-localized in 3D in human (10). Chromosomes’ 3D conformation has been shown to be related to tissue-specific regulation (13,14) ...
Volume 11 - Número 6 - Novembro / Dezembro de 2001
... of the external surface of the vessel. It has been suggested that this lesion results from a developmental exaggeration of the normal transverse supravalvar aortic plica. The membranous type is produced by a fibrous or fibromuscular diaphragm with a small central opening stretched across the lumen o ...
... of the external surface of the vessel. It has been suggested that this lesion results from a developmental exaggeration of the normal transverse supravalvar aortic plica. The membranous type is produced by a fibrous or fibromuscular diaphragm with a small central opening stretched across the lumen o ...
Murine herpesvirus 68 is genetically related to the
... common feature of gammaherpesviruses and reflect a key feature of the biology of this subgroup. Murine herpesvirus 68 (MHV-68) is a naturally occurring herpesvirus of small free-living rodents (Blaskovic et al., 1980; Ciampor et al., 1981 ; Svobodova et al., 1982b; Mistrikova & Blaskovic, 1985). The ...
... common feature of gammaherpesviruses and reflect a key feature of the biology of this subgroup. Murine herpesvirus 68 (MHV-68) is a naturally occurring herpesvirus of small free-living rodents (Blaskovic et al., 1980; Ciampor et al., 1981 ; Svobodova et al., 1982b; Mistrikova & Blaskovic, 1985). The ...
Gene Section JUN (V-Jun sarcoma virus 17 oncogene homolog (avian))
... transcription factors, and its transcriptional activity is possibly attenuated by JUNB or JUND. It has been well accepted that JUN regulates cell proliferation, apoptosis and transformation. JUN promotes cell cycle transition from G1 phase to S phase by up-regulating cyclin D1 expression and antagon ...
... transcription factors, and its transcriptional activity is possibly attenuated by JUNB or JUND. It has been well accepted that JUN regulates cell proliferation, apoptosis and transformation. JUN promotes cell cycle transition from G1 phase to S phase by up-regulating cyclin D1 expression and antagon ...
Praktikum der Microarray-Datenanalyse
... • if H0 is true, no more than a fraction α of the replications will yield a p-value ≤ α • subject-sampling p-value: replications involve taking a new sample of subjects and measure same genes → a significant p-values gives confidence to find the same associations within a new sample of subjects • ge ...
... • if H0 is true, no more than a fraction α of the replications will yield a p-value ≤ α • subject-sampling p-value: replications involve taking a new sample of subjects and measure same genes → a significant p-values gives confidence to find the same associations within a new sample of subjects • ge ...
Y chromosome: Structure and Biological Functions
... region that remove both of these genes cause Sertoli ...
... region that remove both of these genes cause Sertoli ...
Leukaemia Section 8p11 myeloproliferative syndrome (EMS, eight p11 myeloproliferative syndrome)
... This translocation was described by Walz et al. (2005) in a 74-year-old female with a 2 years history of an unusual myelodysplastic/myeloproliferative disease (MDS/MPD) with thrombocytopenia, markedly reduced size and numbers of megakaryocytes and elevated numbers of monocytes, eosinophils and basop ...
... This translocation was described by Walz et al. (2005) in a 74-year-old female with a 2 years history of an unusual myelodysplastic/myeloproliferative disease (MDS/MPD) with thrombocytopenia, markedly reduced size and numbers of megakaryocytes and elevated numbers of monocytes, eosinophils and basop ...
Geographic Distribution And Adaptive Significance
... phenotypic variation. The recent advent of high-throughput genomic technologies revealed an overlooked type of genomic variation, namely structural variants (SVs). In fact, some SVs may contribute to human adaptation in substantial and previously unexplored ways. SVs include deletions, insertions, ...
... phenotypic variation. The recent advent of high-throughput genomic technologies revealed an overlooked type of genomic variation, namely structural variants (SVs). In fact, some SVs may contribute to human adaptation in substantial and previously unexplored ways. SVs include deletions, insertions, ...
heterozygous nephew cystic fibrosis symptoms than her codon in
... Dot blot analysis (fig 1) showed that the CF girl (II.2) was homozygous and her cousin (11.1) heterozygous for the G542X mutation. Direct sequencing of an amplified fragment, containing exon 9, of patient II.1 detected a new mutation (fig 2), resulting in a substitution of a conserved glycine (GGA) ...
... Dot blot analysis (fig 1) showed that the CF girl (II.2) was homozygous and her cousin (11.1) heterozygous for the G542X mutation. Direct sequencing of an amplified fragment, containing exon 9, of patient II.1 detected a new mutation (fig 2), resulting in a substitution of a conserved glycine (GGA) ...
Information Encoding in Biological Molecules: DNA and
... Joins the sequences - based on a sequence scaffold or “Golden Path” Automatically finds genes and other features of the sequence Associates sequence and features with data from other sources Provides a publicly accessible web based interface to the database ...
... Joins the sequences - based on a sequence scaffold or “Golden Path” Automatically finds genes and other features of the sequence Associates sequence and features with data from other sources Provides a publicly accessible web based interface to the database ...
Replicational and transcriptional selection on codon usage in
... replication is retarded. It was pointed out by Fraser et al. (7) that approximately two-thirds of the genes on the B. burgdorferi genome were transcribed away from the origin of replication. This is a situation that has been seen in Mycoplasma genitalium (7) and also M. pneumoniae (20). These organi ...
... replication is retarded. It was pointed out by Fraser et al. (7) that approximately two-thirds of the genes on the B. burgdorferi genome were transcribed away from the origin of replication. This is a situation that has been seen in Mycoplasma genitalium (7) and also M. pneumoniae (20). These organi ...
Here - Personal Genome Project Study Guide
... caused by mutations in the DMD gene. The DMD gene codes for a protein called dystrophin that is necessary for muscle cells to maintain their shape. When this protein is missing, muscle cells literally burst as material from outside the cell membrane leaks in, raising cell pressure. Mutations in the ...
... caused by mutations in the DMD gene. The DMD gene codes for a protein called dystrophin that is necessary for muscle cells to maintain their shape. When this protein is missing, muscle cells literally burst as material from outside the cell membrane leaks in, raising cell pressure. Mutations in the ...
ppt_II
... Joins the sequences - based on a sequence scaffold or “Golden Path” Automatically finds genes and other features of the sequence Associates sequence and features with data from other sources Provides a publicly accessible web based interface to the database ...
... Joins the sequences - based on a sequence scaffold or “Golden Path” Automatically finds genes and other features of the sequence Associates sequence and features with data from other sources Provides a publicly accessible web based interface to the database ...
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.