Epigenetic mechanisms regulate placental c-myc
... aberrant trophoblastic proliferation and invasion, resulting in various pregnancy-related disorders, such as gestational trophoblastic diseases (GTDs: hydatidiform mole and choriocarcinoma), which result from uncontrolled trophoblast proliferation, while inadequate trophoblast invasion has been impl ...
... aberrant trophoblastic proliferation and invasion, resulting in various pregnancy-related disorders, such as gestational trophoblastic diseases (GTDs: hydatidiform mole and choriocarcinoma), which result from uncontrolled trophoblast proliferation, while inadequate trophoblast invasion has been impl ...
Temporal Transcriptome Changes Induced by
... both by genetic and environmental factors, the combination of which contributes to the observed outcome in an individual. We hypothesize that after MDV infection, genes related to MD-resistance or -susceptibility may exhibit different trends in transcriptional activity in chicken lines having a vary ...
... both by genetic and environmental factors, the combination of which contributes to the observed outcome in an individual. We hypothesize that after MDV infection, genes related to MD-resistance or -susceptibility may exhibit different trends in transcriptional activity in chicken lines having a vary ...
Diagnostic Clinical Genome and Exome Sequencing
... equencing of the genome or exome for clinical applications, hereafter referred to as clinical genome and exome sequencing (CGES), has now entered medical practice.1 Several thousand CGES tests have already been ordered for patients, with the goal of establishing diagnoses for rare, clinically unreco ...
... equencing of the genome or exome for clinical applications, hereafter referred to as clinical genome and exome sequencing (CGES), has now entered medical practice.1 Several thousand CGES tests have already been ordered for patients, with the goal of establishing diagnoses for rare, clinically unreco ...
CFTR mutation classifications toward genotype
... address the underlying cause of the disease, recent approaches have enabled the identification of small molecules targeting either the CFTR protein directly, or its key processing steps. These novel therapeutic tools correct specific defects responsible for CFTR protein loss-of-function and need to ...
... address the underlying cause of the disease, recent approaches have enabled the identification of small molecules targeting either the CFTR protein directly, or its key processing steps. These novel therapeutic tools correct specific defects responsible for CFTR protein loss-of-function and need to ...
and Light-Chain Variable-Region Gene Families
... VH genes form three clusters that correspond to three VH groups (A, B, and C; Ota and Nei 1994). However, various VH groups are not necessarily represented in the genomes of all species: humans and mice possess VH genes from all three groups, whereas VH genes from birds, rabbits, cattle, sheep, and ...
... VH genes form three clusters that correspond to three VH groups (A, B, and C; Ota and Nei 1994). However, various VH groups are not necessarily represented in the genomes of all species: humans and mice possess VH genes from all three groups, whereas VH genes from birds, rabbits, cattle, sheep, and ...
YEAST GENETICS AND MOLECULAR BIOLOGY
... Today genetic crosses are used to generate yeast strains with new combination of mutations, for instance double, triple....mutations – for this it is useful to know some principles of genetic crosses and gene segregation And even today with the genome fully sequenced we often perform genetic screens ...
... Today genetic crosses are used to generate yeast strains with new combination of mutations, for instance double, triple....mutations – for this it is useful to know some principles of genetic crosses and gene segregation And even today with the genome fully sequenced we often perform genetic screens ...
S Diagnostic Clinical Genome and Exome Sequencing review article
... equencing of the genome or exome for clinical applications, hereafter referred to as clinical genome and exome sequencing (CGES), has now entered medical practice.1 Several thousand CGES tests have already been ordered for patients, with the goal of establishing diagnoses for rare, clinically unreco ...
... equencing of the genome or exome for clinical applications, hereafter referred to as clinical genome and exome sequencing (CGES), has now entered medical practice.1 Several thousand CGES tests have already been ordered for patients, with the goal of establishing diagnoses for rare, clinically unreco ...
Beyond The Classical Cystic Fibrosis
... The molecular analysis of the CFTR gene revealed that the two brothers, aged 26 and 29 years old respectively, were both ‘compound heterozygotes G542X/D1152H’, while the third one, aged 37 years old, and was ‘compound heterozygotes G542X/E831X’. With regard to the 76 patients with cystic fibrosis an ...
... The molecular analysis of the CFTR gene revealed that the two brothers, aged 26 and 29 years old respectively, were both ‘compound heterozygotes G542X/D1152H’, while the third one, aged 37 years old, and was ‘compound heterozygotes G542X/E831X’. With regard to the 76 patients with cystic fibrosis an ...
Effects of Genic Base Composition on Growth Rate in G+C
... The variation in genomic base composition among bacteria has been thought to arise primarily from species-specific differences in the frequencies of each mutation (Sueoka 1962; Freese 1962). Recent comparisons of closely related genomes indicate that, for most genomes, the input of new mutations wou ...
... The variation in genomic base composition among bacteria has been thought to arise primarily from species-specific differences in the frequencies of each mutation (Sueoka 1962; Freese 1962). Recent comparisons of closely related genomes indicate that, for most genomes, the input of new mutations wou ...
PDF
... Fig. 1. Vertebrate Hox genes. There are four clusters of vertebrate Hox genes. Numbers in the boxes represent previous nomenclature. Currently, genes are referred to by their cluster letter (right) and paralogue number (l-13 listed above). At the time of insect/vertebrate divergence, there were betw ...
... Fig. 1. Vertebrate Hox genes. There are four clusters of vertebrate Hox genes. Numbers in the boxes represent previous nomenclature. Currently, genes are referred to by their cluster letter (right) and paralogue number (l-13 listed above). At the time of insect/vertebrate divergence, there were betw ...
CfE Higher Biology Unit 1: DNA and the Genome
... DNA takes the form of a double helix. DNA is made up of two antiparallel strands. This means the strands run in opposite directions to each other. The carbon atoms on the deoxyribose sugar are numbered as shown below. ...
... DNA takes the form of a double helix. DNA is made up of two antiparallel strands. This means the strands run in opposite directions to each other. The carbon atoms on the deoxyribose sugar are numbered as shown below. ...
64$ CfE Higher Biology Unit 1: DNA and the
... The significance of DNA and its role in hereditary can be traced from the work of Griffiths, who in 1928 demonstrated the "transforming principle" in bacteria. He, and later others (Avery, McCartney & McLeod, 1944), would show this "transforming principle" to be DNA. Later, in the 1950s, Hershey & C ...
... The significance of DNA and its role in hereditary can be traced from the work of Griffiths, who in 1928 demonstrated the "transforming principle" in bacteria. He, and later others (Avery, McCartney & McLeod, 1944), would show this "transforming principle" to be DNA. Later, in the 1950s, Hershey & C ...
Automatically Generating Gene Summaries from Biomedical
... The generated summary covers six aspects of a gene: (1) Gene products; (2) Expression location; (3) Sequence information; (4) Wild-type function and phenotypic information; (5) Mutant phenotype; and (6) Genetical interaction. Such a summary not only is itself very useful, but also can serve as usefu ...
... The generated summary covers six aspects of a gene: (1) Gene products; (2) Expression location; (3) Sequence information; (4) Wild-type function and phenotypic information; (5) Mutant phenotype; and (6) Genetical interaction. Such a summary not only is itself very useful, but also can serve as usefu ...
Clinical Laboratory Reports in Molecular Pathology
... stated. This is expressed as a normal range for a quantitative test, along with the units of measurement. Interassay reproducibility is an important parameter that allows a clinician to determine whether 2 sequential test results are significantly different from each other, and information about ass ...
... stated. This is expressed as a normal range for a quantitative test, along with the units of measurement. Interassay reproducibility is an important parameter that allows a clinician to determine whether 2 sequential test results are significantly different from each other, and information about ass ...
Reconstruction of a 450-My-old ancestral vertebrate protokaryotype
... chromosome [13]. Genes from chicken and fish were considered to be orthologous to the respective human gene if reciprocal BLAST best-hit searches identified them as such in the Ensembl database (Table S1 in supplementary online material). Another 801 genes were added from a third fish species, medak ...
... chromosome [13]. Genes from chicken and fish were considered to be orthologous to the respective human gene if reciprocal BLAST best-hit searches identified them as such in the Ensembl database (Table S1 in supplementary online material). Another 801 genes were added from a third fish species, medak ...
Friedreich ataxia: The clinical picture
... The GAA expansion allows the synthesis of some frataxin that is structurally and functionally normal because the coding sequence is not involved in the mutation. Residual levels of frataxin vary according to the length of the expansion and the cell type. In peripheral blood leukocytes, frataxin leve ...
... The GAA expansion allows the synthesis of some frataxin that is structurally and functionally normal because the coding sequence is not involved in the mutation. Residual levels of frataxin vary according to the length of the expansion and the cell type. In peripheral blood leukocytes, frataxin leve ...
File
... Range from no alteration of function to deleterious effects Identification now focus of research • Haplotypes – group of variants that occur together ...
... Range from no alteration of function to deleterious effects Identification now focus of research • Haplotypes – group of variants that occur together ...
1 X chromosome crossover formation and genome stability in
... The germ line efficiently combats numerous genotoxic insults to ensure the high fidelity propagation of unaltered genomic information across generations. Yet, germ cells in most metazoans also intentionally create double-strand breaks (DSBs) to promote DNA exchange between parental chromosomes, a pr ...
... The germ line efficiently combats numerous genotoxic insults to ensure the high fidelity propagation of unaltered genomic information across generations. Yet, germ cells in most metazoans also intentionally create double-strand breaks (DSBs) to promote DNA exchange between parental chromosomes, a pr ...
Etiology : cytogenetics and microdeletions - HAL
... forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several ...
... forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several ...
DROSOPHILA MELANOGASTER - THE MODEL ORGANISM OF
... But for complex processes, such as developmental events or behavioral responses, in which many components of the whole organism are in play, genetics offers perhaps the only viable route to dissecting out the protein components. The genetic approach has been used to probe gene/protein function in ma ...
... But for complex processes, such as developmental events or behavioral responses, in which many components of the whole organism are in play, genetics offers perhaps the only viable route to dissecting out the protein components. The genetic approach has been used to probe gene/protein function in ma ...
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.