Gene Section member 2)) Atlas of Genetics and Cytogenetics
... TNF superfamily currently has 19 well-characterized members. Other members, such as TNFSF19, TNFSF21, and TNFSF22 have not been wellestablished. Although each member has its own receptor preference, a functional overlapping, such as induction of apoptosis and NF-kB activation, has been observed amon ...
... TNF superfamily currently has 19 well-characterized members. Other members, such as TNFSF19, TNFSF21, and TNFSF22 have not been wellestablished. Although each member has its own receptor preference, a functional overlapping, such as induction of apoptosis and NF-kB activation, has been observed amon ...
Chromosome Analysis Suite 3.1 (ChAS 3.1)
... confidence,” and “undetected.” The thresholds for the “high-confidence” calls were established based on separations between the normal reference and mutant calls that resulted in 95% sensitivity and 99% specificity (for lower confidence) and 95% sensitivity and 99.9% specificity (for high confidence ...
... confidence,” and “undetected.” The thresholds for the “high-confidence” calls were established based on separations between the normal reference and mutant calls that resulted in 95% sensitivity and 99% specificity (for lower confidence) and 95% sensitivity and 99.9% specificity (for high confidence ...
Supporting Protocols
... EcoRI_TRP1_Rv (ACCTTTACgaattcGCATAGGCAAGTGCACAAAC) using pRS414 [1] as substrate. The resulting fragment was trimmed by digestion with EcoRI and SalI and inserted into an EcoRI-SalI fragment of pRS413 [1], a CEN4 vector that contains a HIS3 selectable marker, to produce pRS413-TRP1. ...
... EcoRI_TRP1_Rv (ACCTTTACgaattcGCATAGGCAAGTGCACAAAC) using pRS414 [1] as substrate. The resulting fragment was trimmed by digestion with EcoRI and SalI and inserted into an EcoRI-SalI fragment of pRS413 [1], a CEN4 vector that contains a HIS3 selectable marker, to produce pRS413-TRP1. ...
Sequenced Mitochondrial Genomes of Bryophytes
... plant groups have been made. Consequently 71 mitochondrial genomes (as on September 28, 2012) of Viridiplantae are available in organelle genome resources database at National Center for Biotechnology Information. Among these mitochondrial genomes the lineage sampling of bryophytes are poorly repres ...
... plant groups have been made. Consequently 71 mitochondrial genomes (as on September 28, 2012) of Viridiplantae are available in organelle genome resources database at National Center for Biotechnology Information. Among these mitochondrial genomes the lineage sampling of bryophytes are poorly repres ...
View as PDF - Arkansas Cystic Fibrosis Care Center | ACFCC
... We know parents worry and have many questions when they find out their child is diagnosed with CFTR-related metabolic syndrome (CRMS). A diagnosis of CRMS does not mean your child has cystic fibrosis (CF). But, you will need to learn about CF to better understand what it means for your child to have ...
... We know parents worry and have many questions when they find out their child is diagnosed with CFTR-related metabolic syndrome (CRMS). A diagnosis of CRMS does not mean your child has cystic fibrosis (CF). But, you will need to learn about CF to better understand what it means for your child to have ...
Chapter 5. Genetic Interactions and Pathways
... continuous phenotypes will be discussed in Chapter 7, while the analysis of multiple mutations in naturally varying populations will be covered in Chapter 16. Once a genetic interaction is discovered, this information can be used to infer gene relationships. Our focus this chapter is on the logic u ...
... continuous phenotypes will be discussed in Chapter 7, while the analysis of multiple mutations in naturally varying populations will be covered in Chapter 16. Once a genetic interaction is discovered, this information can be used to infer gene relationships. Our focus this chapter is on the logic u ...
Joshua Krämer Dr. med. Pyruvate Kinase Expression and Activity in
... Pyruvate kinase activity is known to be impaired in many forms of cancer because expression is shifted from the tissue-specific pyruvate kinase isoform to the less active isoform M2. This may be relevant to diabetes because there are some links between diabetes and cancer: The two diseases have some ...
... Pyruvate kinase activity is known to be impaired in many forms of cancer because expression is shifted from the tissue-specific pyruvate kinase isoform to the less active isoform M2. This may be relevant to diabetes because there are some links between diabetes and cancer: The two diseases have some ...
Keratins and skin disorders
... Mutations in K5 or K14 cause epidermolysis bullosa simplex, in which the basal cells are fragile and may fracture if the epidermis is subjected to even quite mild physical trauma such as rubbing or scratching (Figure 3); this intraepidermal cytolysis of the basal keratinocyte cells leads to fluid-fi ...
... Mutations in K5 or K14 cause epidermolysis bullosa simplex, in which the basal cells are fragile and may fracture if the epidermis is subjected to even quite mild physical trauma such as rubbing or scratching (Figure 3); this intraepidermal cytolysis of the basal keratinocyte cells leads to fluid-fi ...
On testing the significance of sets of genes
... one gene-set. To quantify this, we “row randomized” the 1000 genes, leaving the sample labels as is. The first 20 genes in the scrambled set became the first gene-set, the second 20 genes became the second gene-set, etc. We did this many 200 times, recomputing the maxmean statistic on each scrambled ...
... one gene-set. To quantify this, we “row randomized” the 1000 genes, leaving the sample labels as is. The first 20 genes in the scrambled set became the first gene-set, the second 20 genes became the second gene-set, etc. We did this many 200 times, recomputing the maxmean statistic on each scrambled ...
Extended Life-Span and Stress Resistance in Drosophila
... al decided to test the hypothesis that mammalian lifespan is regulated by IGF1R, and to test the effects of oxidative stress on mice with altered IGF-1R. ...
... al decided to test the hypothesis that mammalian lifespan is regulated by IGF1R, and to test the effects of oxidative stress on mice with altered IGF-1R. ...
Genetics - Max Appeal!
... second most common cause of congenital heart defects. The frequency of diagnosis has increased enormously over the past decade or so and many individuals who are now found to have the deletion only have very mild symptoms. Also a baby may be diagnosed and then as a result of family genetic counselli ...
... second most common cause of congenital heart defects. The frequency of diagnosis has increased enormously over the past decade or so and many individuals who are now found to have the deletion only have very mild symptoms. Also a baby may be diagnosed and then as a result of family genetic counselli ...
Relationship between expression and methylation of obesity
... to genetic analyses using banked samples from epidemiological studies. nCounter is relatively affordable and allows for the simultaneous quantification of hundreds of targets in a single small-volume sample. The nCounter method of labelling transcripts with unique colour-barcodes allows for the gene ...
... to genetic analyses using banked samples from epidemiological studies. nCounter is relatively affordable and allows for the simultaneous quantification of hundreds of targets in a single small-volume sample. The nCounter method of labelling transcripts with unique colour-barcodes allows for the gene ...
PCAN: phenotype consensus analysis to support
... approach, if there are no mutations in a candidate gene already known to cause rare disease, then direct phenotype-based approaches are of little use. A gene’s biological function is the expression of a highly coordinated sequence of interactions between the gene product and other molecules that co- ...
... approach, if there are no mutations in a candidate gene already known to cause rare disease, then direct phenotype-based approaches are of little use. A gene’s biological function is the expression of a highly coordinated sequence of interactions between the gene product and other molecules that co- ...
Receptor Gene in a Patient with GH Insensitivity Syndrome
... previously been described in a patient from Spain (2). Our paper has convincing genetic studies that add to its interest, because the single allelic defects have no effect on the carrier parents or brother. One of the mutations was a G to T transversion in exon 7 that could introduce a stop codon in ...
... previously been described in a patient from Spain (2). Our paper has convincing genetic studies that add to its interest, because the single allelic defects have no effect on the carrier parents or brother. One of the mutations was a G to T transversion in exon 7 that could introduce a stop codon in ...
PTENgene and carcinoma of the endometrium
... disruption of this normal regulatory pattern, leading to uncontrolled cellular growth and proliferation that is recognized as a malignant tumour. ...
... disruption of this normal regulatory pattern, leading to uncontrolled cellular growth and proliferation that is recognized as a malignant tumour. ...
GenomeWeb Stanford Team Shows How Long Reads Can
... Whole-genome sequencing on the Sequel also revealed the extent to which short-read sequencing technology misses structural variants. The sheer number of structural variants identified and the number of structural variants that are not annotated in databases reveals that discrepancy, he said. Fortuna ...
... Whole-genome sequencing on the Sequel also revealed the extent to which short-read sequencing technology misses structural variants. The sheer number of structural variants identified and the number of structural variants that are not annotated in databases reveals that discrepancy, he said. Fortuna ...
Neutral lipid storage disease with subclinical myo
... biopsy performed to unravel the cause of the hyperCKemia revealed massive TG storage, which was not confined to skeletal muscle, but also involved peripheral blood granulocytes and cultured skin fibroblasts. Proton spectroscopy showed excessive intracellular TG in the heart and, to a lesser extent, in ...
... biopsy performed to unravel the cause of the hyperCKemia revealed massive TG storage, which was not confined to skeletal muscle, but also involved peripheral blood granulocytes and cultured skin fibroblasts. Proton spectroscopy showed excessive intracellular TG in the heart and, to a lesser extent, in ...
Allelic Frequencies of Hla-A, Hla-B and Hla
... tumors stage I and II, but not III and IV. These data suggest that HLADRB1*08 is a marker to be considered in the outcome of patients with ACT, since patients with stages I and II disease have longer survival. This study sought to investigate the contribution of HLA genes with adrenocortical cancer ...
... tumors stage I and II, but not III and IV. These data suggest that HLADRB1*08 is a marker to be considered in the outcome of patients with ACT, since patients with stages I and II disease have longer survival. This study sought to investigate the contribution of HLA genes with adrenocortical cancer ...
Genetic characterization of the mitochondrial DNA - (BORA)
... on opposite DNA strands, as well as genes on the same strand (Wolstenholme, 1992b). Within the metazoans the mitochondrial genomes range in size from 14 – 42 kb (Crease, 1999). This variation in size can to some extent be due to differences in gene length, but in most cases it is a result of size di ...
... on opposite DNA strands, as well as genes on the same strand (Wolstenholme, 1992b). Within the metazoans the mitochondrial genomes range in size from 14 – 42 kb (Crease, 1999). This variation in size can to some extent be due to differences in gene length, but in most cases it is a result of size di ...
Comprehension Questions
... hybrid cell randomly loses human chromosomes and retains only a few. A panel of hybrids that retain different combinations of human chromosomes is tested for expression of a human gene. A correlation between the expression of the gene and the retention of a unique human chromosome in those cell line ...
... hybrid cell randomly loses human chromosomes and retains only a few. A panel of hybrids that retain different combinations of human chromosomes is tested for expression of a human gene. A correlation between the expression of the gene and the retention of a unique human chromosome in those cell line ...
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.