Archives of Microbiology
... Alternative nitrogenases are generally repressed by Mo, but expressed in the presence of tungsten even in Mo-medium (Raina et al. 1992; Thiel et al. 2002b). Remarkably, V-nitrogenases evolve three times more molecular hydrogen and have a higher energy demand than the Mo-enzyme (Eady 2003). At presen ...
... Alternative nitrogenases are generally repressed by Mo, but expressed in the presence of tungsten even in Mo-medium (Raina et al. 1992; Thiel et al. 2002b). Remarkably, V-nitrogenases evolve three times more molecular hydrogen and have a higher energy demand than the Mo-enzyme (Eady 2003). At presen ...
Gene Section HRK (harakiri, BCL2 interacting protein (contains only BH3 domain))
... Ham J. HRK (harakiri, BCL2 interacting protein (contains only BH3 domain)). Atlas Genet Cytogenet Oncol Haematol. 2011; ...
... Ham J. HRK (harakiri, BCL2 interacting protein (contains only BH3 domain)). Atlas Genet Cytogenet Oncol Haematol. 2011; ...
Unit VII - S2TEM Centers SC
... crossing over. This video could be used at any point during the lesson. ...
... crossing over. This video could be used at any point during the lesson. ...
Surrogate Genetics and Metabolic Profiling for Characterization of
... CBS and its variants have the potential to alter regulatory methylation of DNA and histones, as well as the redox state of the cell. Yet, elevated homocysteine levels occur in many people, including heterozygotes for some CBS alleles, without any clinical symptoms (Motulsky 1996; Guttormsen et al. 2 ...
... CBS and its variants have the potential to alter regulatory methylation of DNA and histones, as well as the redox state of the cell. Yet, elevated homocysteine levels occur in many people, including heterozygotes for some CBS alleles, without any clinical symptoms (Motulsky 1996; Guttormsen et al. 2 ...
Linking Cognitive Neuroscience and Molecular Genetics: New Perspectives from Williams... Ursula Bellugi and Marie St. George (Eds.)
... In the current work, we will describe the construction of a working physical map of the WMS region including the flanking duplications. Combining data from fluorescence in situ hybridization (FISH), BAC end sequencing and large-scale sequence analyses, we will illustrate that the genomic organizatio ...
... In the current work, we will describe the construction of a working physical map of the WMS region including the flanking duplications. Combining data from fluorescence in situ hybridization (FISH), BAC end sequencing and large-scale sequence analyses, we will illustrate that the genomic organizatio ...
Statistical analysis of simple repeats in the human genome
... associated with any of the single- or di-nucleotide probabilities, nor with any mnucleotide probability, with m42: This finding is consistent with the general acceptance of the failure of zeroth- and first-order Markovian models of simple repeats to fully account for ‘‘linguistic’’ features of non-cod ...
... associated with any of the single- or di-nucleotide probabilities, nor with any mnucleotide probability, with m42: This finding is consistent with the general acceptance of the failure of zeroth- and first-order Markovian models of simple repeats to fully account for ‘‘linguistic’’ features of non-cod ...
Role of the distal convoluted tubule in renal Mg handling: molecular
... recycling to enable normal activity of the Na+ /K+ ATPase (figure 1). The Na+ /K+ -ATPase generates a negative membrane potential and provides a Na+ gradient for NCC to facilitate transport of Na+ from the lumen into the cytoplasm. Impairment of the electrogenic Na+ /K+ -ATPase activity at the basola ...
... recycling to enable normal activity of the Na+ /K+ ATPase (figure 1). The Na+ /K+ -ATPase generates a negative membrane potential and provides a Na+ gradient for NCC to facilitate transport of Na+ from the lumen into the cytoplasm. Impairment of the electrogenic Na+ /K+ -ATPase activity at the basola ...
Technical standards and guidelines for spinal muscular atrophy testing
... that the neuronal population is more sensitive to decreases in the SMN protein level. Possibly, the altered splicing of a unique set of premessenger RNAs results in deficient proteins, which are necessary for motor neuron growth and survival. In addition to its role in spliceosomal ribonucleoprotein ...
... that the neuronal population is more sensitive to decreases in the SMN protein level. Possibly, the altered splicing of a unique set of premessenger RNAs results in deficient proteins, which are necessary for motor neuron growth and survival. In addition to its role in spliceosomal ribonucleoprotein ...
Mutations affecting the cardiovascular system and other internal
... 1995; Sato et al., 1995; Dumont et al., 1994). For other genes expressed in the developing cardiovascular system, however, the knock-out mice do not show a cardiovascular phenotype (Kern et al., 1995), perhaps due to redundancy. In fact, the disruption of the retinoic acid receptors (RAR) α, β or γ ...
... 1995; Sato et al., 1995; Dumont et al., 1994). For other genes expressed in the developing cardiovascular system, however, the knock-out mice do not show a cardiovascular phenotype (Kern et al., 1995), perhaps due to redundancy. In fact, the disruption of the retinoic acid receptors (RAR) α, β or γ ...
American College of Medical Genetics standards
... often result from specific gain of function mutations rather than dosage imbalance; therefore, CNVs involving such genes may either have no clinical relevance or result in an entirely different phenotype (e.g., gain of function/activating mutations in FGFR1 result in skeletal dysplasias, whereas del ...
... often result from specific gain of function mutations rather than dosage imbalance; therefore, CNVs involving such genes may either have no clinical relevance or result in an entirely different phenotype (e.g., gain of function/activating mutations in FGFR1 result in skeletal dysplasias, whereas del ...
American College of Medical Genetics standards and guidelines for
... often result from specific gain of function mutations rather than dosage imbalance; therefore, CNVs involving such genes may either have no clinical relevance or result in an entirely different phenotype (e.g., gain of function/activating mutations in FGFR1 result in skeletal dysplasias, whereas del ...
... often result from specific gain of function mutations rather than dosage imbalance; therefore, CNVs involving such genes may either have no clinical relevance or result in an entirely different phenotype (e.g., gain of function/activating mutations in FGFR1 result in skeletal dysplasias, whereas del ...
Structural organization of the transfer RNA gene clusters of cholera
... phage φ 149 genome. The results presented here show that the tRNA genes are contained in two HindIII fragments, 11 and 3·4 kb in length. These two fragments do not bear any sequence homology and the smallest fragment alone carried the genes for tRNAs specific for nine different amino acids. Secondly ...
... phage φ 149 genome. The results presented here show that the tRNA genes are contained in two HindIII fragments, 11 and 3·4 kb in length. These two fragments do not bear any sequence homology and the smallest fragment alone carried the genes for tRNAs specific for nine different amino acids. Secondly ...
The Coat of Many Colors
... A blue merle is a tri-color (homozygous black & tan) with the merle allele of the SILV gene. A sable merle is a sable that can be either homozygous sable or heterozygous sable with the addition of a non-color producing merle allele. Merle actually has the affect of preventing some of the color from ...
... A blue merle is a tri-color (homozygous black & tan) with the merle allele of the SILV gene. A sable merle is a sable that can be either homozygous sable or heterozygous sable with the addition of a non-color producing merle allele. Merle actually has the affect of preventing some of the color from ...
The evolution of life cycles with haploid and diploid phases
... of this phenomenon have led to the conclusion that predominantly haploid life cycles are favored if (1) sex is rare, (2) recombination is rare, (3) selfing is common, or (4) assortative mating is common.13,23,34,35 In a similar manner, if there is selection among cells within an individual, masking ...
... of this phenomenon have led to the conclusion that predominantly haploid life cycles are favored if (1) sex is rare, (2) recombination is rare, (3) selfing is common, or (4) assortative mating is common.13,23,34,35 In a similar manner, if there is selection among cells within an individual, masking ...
How to test for complementation between mutant strains. David D. Perkins Background
... the ability to complement is to superimpose small quantities of mycelia and/or conidia at a spot on the surface of a large slant of minimal or other appropriate forcing medium. For large-scale testing, or when speed and efficiency of complementation are being investigated, special methods have been ...
... the ability to complement is to superimpose small quantities of mycelia and/or conidia at a spot on the surface of a large slant of minimal or other appropriate forcing medium. For large-scale testing, or when speed and efficiency of complementation are being investigated, special methods have been ...
Identifying Common Genetic Variants by High
... screened at each exon of ACVRL1 and ENG by highresolution melting, the most common result was a single melting curve cluster, indicating that all 20 alleles were identical (observed in 17 of 24 exons). In 5 exons, 1 aberrant melting curve revealed a single common variant, and in ACVRL1, exon 3, 2 va ...
... screened at each exon of ACVRL1 and ENG by highresolution melting, the most common result was a single melting curve cluster, indicating that all 20 alleles were identical (observed in 17 of 24 exons). In 5 exons, 1 aberrant melting curve revealed a single common variant, and in ACVRL1, exon 3, 2 va ...
Genome-Wide Copy Number Variation in Epilepsy: Novel
... only once. Seventeen events involved multiple genes, one of which was observed in two different individuals with JME (duplication of 18q11, Table 2). ...
... only once. Seventeen events involved multiple genes, one of which was observed in two different individuals with JME (duplication of 18q11, Table 2). ...
Alfred Henry Sturtevant - National Academy of Sciences
... appeared to be within the gene (point mutations). Efficient methods for the experimental induction and detection of mutations had yet to be worked out, however. Moreover, spontaneous mutants were too rare, for the most part, to permit practical study of specific genes, except in the case of Bar. Thi ...
... appeared to be within the gene (point mutations). Efficient methods for the experimental induction and detection of mutations had yet to be worked out, however. Moreover, spontaneous mutants were too rare, for the most part, to permit practical study of specific genes, except in the case of Bar. Thi ...
The Mobile Genetic Element Alu in the Human Genome
... nucleotide information were translated, 10 9 amino acids, or approximately 3 million average-size proteins, would be encoded. Based on the fully sequenced genomes of simple organisms and considerations of the higher complexity of humans, it is estimated that no more than 60,000 to 100,000 proteins, ...
... nucleotide information were translated, 10 9 amino acids, or approximately 3 million average-size proteins, would be encoded. Based on the fully sequenced genomes of simple organisms and considerations of the higher complexity of humans, it is estimated that no more than 60,000 to 100,000 proteins, ...
Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells
... the loss-of-function of FMRP leads to neural deficits in FXS fetuses. In addition, the underlying mechanisms for germ line and somatic CGG instabilities in FXS are unknown. In terms of treatment, it would be enormously beneficial to find how/whether FMR1 gene inactivation can be reversed in patients ...
... the loss-of-function of FMRP leads to neural deficits in FXS fetuses. In addition, the underlying mechanisms for germ line and somatic CGG instabilities in FXS are unknown. In terms of treatment, it would be enormously beneficial to find how/whether FMR1 gene inactivation can be reversed in patients ...
2-3-8 Lung cancer
... Although lung cancer incidence and mortalities are still low in the Arab world as compared to Europe or USA, they are gradually increasing in the region. Furthermore, there is great variation between different parts of the Arab world. For instance, the agestandardized rates (ASRs) for lung cancer in ...
... Although lung cancer incidence and mortalities are still low in the Arab world as compared to Europe or USA, they are gradually increasing in the region. Furthermore, there is great variation between different parts of the Arab world. For instance, the agestandardized rates (ASRs) for lung cancer in ...
Syllabus PDF
... sponsored educational activities. All faculty participating in a CME-certified activity are expected to disclose to the audience any relevant financial interest(s) or other relationship(s) with the manufacturer(s) of any commercial product(s), provider(s) of commercial services or any commercial sup ...
... sponsored educational activities. All faculty participating in a CME-certified activity are expected to disclose to the audience any relevant financial interest(s) or other relationship(s) with the manufacturer(s) of any commercial product(s), provider(s) of commercial services or any commercial sup ...
What Size Are Your Genes?
... disease, but will be a carrier of the mutant gene. If an individual has two mutated genes, all the protein product will be in the mutated form. If the gene codes for a critical protein, the individual with two mutated genes often will suffer from a clinical disease. A copy of the mutated gene will a ...
... disease, but will be a carrier of the mutant gene. If an individual has two mutated genes, all the protein product will be in the mutated form. If the gene codes for a critical protein, the individual with two mutated genes often will suffer from a clinical disease. A copy of the mutated gene will a ...
Analysis of acid-induced asr gene promoter of Enterobacteriaceae
... asr mRNA is a long-lived and one of the most abundant RNA messages in E. coli cells at maximal levels of induction [5]. This was confirmed by mRNA expression profiling of E. coli cells grown in a supplemented minimal medium and subjected to acid shock [7]. Search for the trans-acting regulatory comp ...
... asr mRNA is a long-lived and one of the most abundant RNA messages in E. coli cells at maximal levels of induction [5]. This was confirmed by mRNA expression profiling of E. coli cells grown in a supplemented minimal medium and subjected to acid shock [7]. Search for the trans-acting regulatory comp ...
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.