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The Hereditary Stomatocytoses: Genetic Disorders of the Red Cell
The Hereditary Stomatocytoses: Genetic Disorders of the Red Cell

... measures the osmotic resistance and hydration of the red blood cell; the curve depicting the temperature dependence of the cation leak is also important. Syndromes include familial pseudohyperkalemia (FP), which is devoid of hematological features, dehydrated hereditary stomatocytosis (DHS), and ove ...
inheritance jeopardy
inheritance jeopardy

... antlers, and the recessive phenotype is short stunted antlers. With respect to the gene for coat pattern (letter P), the recessive phenotype is a white chest spot, and the dominant phenotype is no spot. A moose with the genotype Ggpp will have this phenotype. ...
Computational Diagnosis - Computational Diagnostics Group
Computational Diagnosis - Computational Diagnostics Group

... Pam would not find these two genes because their group centroids are to near to the overall centroid Each of them is a poor classifier, together they are a good one This is both a bug and a feature of PAM Again, there is regularization going on PAM does not find everything, but what it finds has a ...
Computational Diagnosis
Computational Diagnosis

... Pam would not find these two genes because their group centroids are to near to the overall centroid Each of them is a poor classifier, together they are a good one This is both a bug and a feature of PAM Again, there is regularization going on PAM does not find everything, but what it finds has a ...
Independent specialization of the human and mouse X
Independent specialization of the human and mouse X

... were averaged, it was important to rule out the possibility that only one family member was actively transcribed in the testis—which we did by scrutinizing the testis mRNA-seq data for sequence variants that differentiated members of a gene family (Supplementary Table 9). The testis-predominant expr ...
Molecular detection of pathogenic leptospiral serovars by PCR
Molecular detection of pathogenic leptospiral serovars by PCR

... Leptospira are potential candidates that may be useful as diagnostic and analysis of the disease. In this study, lipL21 gene was used for detection and differentiation of pathogenic from saprophytic leptospiral serovars in PCR assays. The leptospiral lipL21 gene expressed only in pathogenic Leptospi ...
Leukaemia Section Acute megakaryoblastic leukemia (AMegL) M7 acute non lymphocytic leukemia (M7-ANLL)
Leukaemia Section Acute megakaryoblastic leukemia (AMegL) M7 acute non lymphocytic leukemia (M7-ANLL)

... or CD7 positivity can be found on some occasions. The CD34, CD13 and CD33 markers are positive in a substantial fraction of cases, as is the case with the CD36/thrombospondin receptor. The myeloperoxidase stain is negative by light microscopy, but ultrastructural peroxidase activity with a specific ...
Abstract
Abstract

... Transcriptomic tools, such as DNA microarray and Serial Analysis of Gene Expression (SAGE), permit simultaneous examination of thousands of transcripts. However, the complex regulatory routes or networks, from post-translational modification to protein turnover, cannot be studied at the cDNA level. ...
BMC Genomics - LCBB
BMC Genomics - LCBB

... 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 example, comparisons of orthologous chromosomal segments sh ...
Identify differential APA usage from RNA
Identify differential APA usage from RNA

... experimental design exists: in this case only the correct pairs between control and treatment samples should be compared with the Fisher test; then their p-values can be combined following the Fisher method ([3]) because we have different independent tests on the same null hypothesis. For these situ ...
Solving Genetics Problems
Solving Genetics Problems

... identical alleles for a trait (TT or tt) Heterozygous: organism with 2 different alleles for a trait (Tt) (aka Hybrid) ...
Predicting Gene Expression Level from Codon Usage Bias
Predicting Gene Expression Level from Codon Usage Bias

... one sense this is less problematic because, even for very strongly biased genes, E(g) values are unlikely to decrease below 1.0. However, this categorization of genes brings a different problem because using an arbitrary threshold value of E(g) must lead to genes with very similar codon usage bias, ...
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a

... Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dependent assoc ...
Biosynthesis of heme in mammals
Biosynthesis of heme in mammals

... generated in the liver (hepatic porphyrias) or the red cell (erythropoietic porphyrias). Here, each porphyric disorder will be described in the context of the step in the pathway which is defective. ...
Comparative In silico Study of Sex
Comparative In silico Study of Sex

... 99.67% identical at the amino acid level. Homosapiens and Pantroglodytes (chimpanzee) have the next lowest genetic distance of 1.35 and are 98.65% identical at the amino acid level. Conclusion: These findings indicate that the SRY proteins are conserved in the 15 species, and their evolutionary rela ...
Protein Supplements
Protein Supplements

... carbohydrate or fat. I’m not talking about Atkins-type diets here but by increasing protein intake slightly and decreasing carbohydrate intake slightly and keeping fat intake low, you may find you can lose a little bit of weight. Aspects that led health professionals to be so anti-Atkins (and quite ...
Genetics of the Bombay Phenotype
Genetics of the Bombay Phenotype

... as H and the mutant as h. The genotypes of the two homozygous types and the heterobygote may be written as H/H, h/h (the Bombay phenotype) and H/h. The use of the symbol h is not meant to imply that gene h produces some alternate gene product. From the study to be presented, ...
MayerFrankiPoster
MayerFrankiPoster

... Our group had genetically modified the cyanobacterium Synechococcus sp. PCC 7002 to produce isoprene. However, for this ‘photo-isoprene’ to become a marketable option for replacing petroleum products, there are many more modifications to be made. One of these involves the gene cpcB that codes for a ...
Polymorphism of FecB Gene in Nine Sheep Breeds or Strains and
Polymorphism of FecB Gene in Nine Sheep Breeds or Strains and

... Ewes and rams were selected on the basis of these traits because this region was famous for Hu-sheep lambskins. Traditionally, the farmer sold excellent individuals and retained lower quality individuals. Later when exportation of lambskins was resisted in 1980s, the excellent individuals were retai ...
Analysis of mutant strains
Analysis of mutant strains

... mutations to chromosomes. In a landmark study, Masselot and DeRobichon-Szulmajster (1975) collected 100 met strains from labs around the world and did systematic complementation experiments with all the mutants. Twenty-one complementation groups, representing potential genes, were identified, and th ...
Molecular Microbial Ecology of the Rhizosphere
Molecular Microbial Ecology of the Rhizosphere

... in surface adhesion or biofilm formation (Chen et al., 2007). Notably, triple helix repeat-containing collagen proteins were not detected in other representatives of the B. subtilis species complex, except for B. atrophaeus and B. pumilus. However, in the plant-associated B. amyloliquefaciens YAU Y2 ...
5. Differential Gene Expression
5. Differential Gene Expression

... Location in DNA ­ highly variable:  ­ upstream (5’), downstream (3’), or within transcribed region  ­ in close proximity to gene or as many as 10 6  bp away  Enhancers and promoters are both DNA regulatory sequences,  but enhancers:  1) need a promoter to work  2) can work at a distance  3) can work ...
Carroll 2006 Fossil Genes
Carroll 2006 Fossil Genes

... dim-light rhodopsin but n o MWSILWS opsin genes, the type other fish and we humans use for red-green vision. Because fish, mammals, and most other vertebrates have at least one version of this opsin, we know that coelaca~ithancestors also had this gene, so somewhere along the line of coelacanth evol ...
Novel genes involved in the regulation of
Novel genes involved in the regulation of

... reports on the genes in the right-hand section and on the phenotypes of mutants with transposon insertions in these genes. Sequence analysis identified eight genes or ORFs with the gene order rpfD–orf1–orf2–orf3–orf4–recJ–rpfE–greA. RecJ and GreA have established functions in recombination and trans ...
Self-Subunit Swapping Occurs in Another Gene Type of Cobalt
Self-Subunit Swapping Occurs in Another Gene Type of Cobalt

... which allows the activator protein to easily form a mediatory complex with the a-subunit of the NHase after translation. Here, we discovered that the incorporation of cobalt into another type of Co-NHase, with a gene organization of ,asubunit. ,b-subunit. ,activator protein., was also dependent on s ...
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Gene nomenclature

Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. An international committee published recommendations for genetic symbols and nomenclature in 1957. The need to develop formal guidelines for human gene names and symbols was recognized in the 1960s and full guidelines were issued in 1979 (Edinburgh Human Genome Meeting). Several other species-specific research communities (e.g., Drosophila, mouse) have adopted nomenclature standards, as well, and have published them on the relevant model organism websites and in scientific journals, including the Trends in Genetics Genetic Nomenclature Guide. Scientists familiar with a particular gene family may work together to revise the nomenclature for the entire set of genes when new information becomes available. For many genes and their corresponding proteins, an assortment of alternate names is in use across the scientific literature and public biological databases, posing a challenge to effective organization and exchange of biological information. Standardization of nomenclature thus tries to achieve the benefits of vocabulary control and bibliographic control, although adherence is voluntary. The advent of the information age has brought gene ontology, which in some ways is a next step of gene nomenclature, because it aims to unify the representation of gene and gene product attributes across all species.Gene nomenclature and protein nomenclature are not separate endeavors; they are aspects of the same whole. Any name or symbol used for a protein can potentially also be used for the gene that encodes it, and vice versa. But owing to the nature of how science has developed (with knowledge being uncovered bit by bit over decades), proteins and their corresponding genes have not always been discovered simultaneously (and not always physiologically understood when discovered), which is the largest reason why protein and gene names do not always match, or why scientists tend to favor one symbol or name for the protein and another for the gene. Another reason is that many of the mechanisms of life are the same or very similar across species, genera, orders, and phyla, so that a given protein may be produced in many kinds of organisms; and thus scientists naturally often use the same symbol and name for a given protein in one species (for example, mice) as in another species (for example, humans). Regarding the first duality (same symbol and name for gene or protein), the context usually makes the sense clear to scientific readers, and the nomenclatural systems also provide for some specificity by using italic for a symbol when the gene is meant and plain (roman) for when the protein is meant. Regarding the second duality (a given protein is endogenous in many kinds of organisms), the nomenclatural systems also provide for at least human-versus-nonhuman specificity by using different capitalization, although scientists often ignore this distinction, given that it is often biologically irrelevant.Also owing to the nature of how scientific knowledge has unfolded, proteins and their corresponding genes often have several names and symbols that are synonymous. Some of the earlier ones may be deprecated in favor of newer ones, although such deprecation is voluntary. Some older names and symbols live on simply because they have been widely used in the scientific literature (including before the newer ones were coined) and are well established among users.
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