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International Journal of Antimicrobial Agents ksgA mutations confer
International Journal of Antimicrobial Agents ksgA mutations confer

... respectively. Two genes have previously been shown to be involved in bacterial KSG resistance: rpsI, which encodes the 30S ribosomal subunit S9 protein; and ksgA, which encodes a predicted dimethyltransferase. Although sequencing of rpsI and ksgA from clinical isolates revealed polymorphisms, none c ...
Role of the distal convoluted tubule in renal Mg handling: molecular
Role of the distal convoluted tubule in renal Mg handling: molecular

... Measurement of urinary Mg2+ excretion before Mg2+ replacement helps to determine whether the hypomagnesmic state results from renal or extra-renal causes. Moreover, hypomagnesemia can be secondary to treatment with therapeutic agents [10-12] or to other medical conditions [13]. In recent years, seve ...
Gene prediction and Genome Annotation
Gene prediction and Genome Annotation

... • RNA seq detect sense and antisense transcripts, protein-encoding or not • Only stranded reads can tell for sure in which sense they should apply • Small read length of RNA seq leads to virtual transcripts, but are they (all) real ones? • Artificial merging of (overlapping) transcripts ...
Chapter 1.
Chapter 1.

... The AFLP technique can be used for DNAs of any organ or complexity. Fingerprints are produced without prior sequence knowledge using a limited set of genetic primers. The number of fragments detected in a single reaction can be tuned by selection of a specific primer set. The AFLP technique is robus ...
In vivo evidence for the prokaryotic model of extended codon
In vivo evidence for the prokaryotic model of extended codon

... (lane 1), a well-de®ned set of proteins is labeled in WT cells, including cyt f, as evidenced by the speci®c absence of this species in strain DpetA, in which the petA gene is deleted (lane 2). Apart from these controls, the results showed that the ectopic expression of either the WT-A37, U37 or G37 ...
Heredity and Math - Computer Science
Heredity and Math - Computer Science

... Unfortunately, another trait that can be passed on is the tendency to get certain diseases or disorders. Some examples of these are hemophilia, which is a blood-clotting disorder, and cystic fibrosis, a breathing disorder. The tendency to get certain cancers also can be inherited. ...
Sickle Cell Disease and Hemoglobinopathy Screening in Pregnancy
Sickle Cell Disease and Hemoglobinopathy Screening in Pregnancy

... 1. Beta thalassemia minor or β-thalassemia trait • Heterozygosity for a β globin gene which codes for decreased (β+) or absent (β0 ) β protein product • Usually clinically asymptomatic • CBC often shows elevated RBC number with decreased MCV and/or MCH, in the absence of iron deficiency • Mean value ...
Rapid Selection of Multiple Gene Integrant for the Production of
Rapid Selection of Multiple Gene Integrant for the Production of

... integration of a transforming vector was completely dependent on the function of telomeric ARS used in the vector. Therefore, a vector containing a telomeric ARS could greatly facilitate the selection of multiple gene integrants for the development of industrial recombinant protein producing strain ...
ppt
ppt

... feathers. Since both are dominant, when they are inherited together, the result is a “slightly frizzled” (F’F) chicken. Show Punnett squares for a cross between chickens with frizzled x slightly frizzled ...
MTHFR C677T and A1298C: Explained In Plain
MTHFR C677T and A1298C: Explained In Plain

... Although diet and lifestyle are major influences, your genetics are thought to be responsible for between 45-60% of the variance in plasma (blood) homocysteine levels in normal adults (7, 8). Of that genetic variance, C677T mutations are thought to account for between 24-53% of all cases (7). Resear ...
Contrasting Properties of Gene-Specific Regulatory, Coding, and
Contrasting Properties of Gene-Specific Regulatory, Coding, and

... Genetic dissection of phenotypic differences within and between species has shown that mutations affecting either the expression or function of a gene product can contribute to phenotypic evolution; mutations that alter gene copy number have also been shown to be an important source of phenotypic va ...
Characteristics and Traits
Characteristics and Traits

... of these possibilities must be counted. Recall that Mendel's pea-plant characteristics behaved in the same way in reciprocal crosses. Therefore, the two possible heterozygous combinations produce ospring that are genotypically and phenotypically identical despite their dominant and recessive allele ...
lacl
lacl

... lacp-GFP-glnG-cI (cont) • Sequencing and characterization failed – BioBrick had bad DNA (wrong lacp sequence) ...
MGF 360-17R Missing
MGF 360-17R Missing

... due to a carboxy terminus truncation. It is possible that when comparing to these genes they appeared to form their own ortholog, causing any subsequent assignments to be a new ortholog. ...
Case Report Novel Sonic Hedgehog Mutation in a Couple
Case Report Novel Sonic Hedgehog Mutation in a Couple

... mutation found in this case is at position 127 (TGG for TGA), which suggests that mutations in this adjacent residues are associated with an important phenotypic clinical variability. The etiology of the wide phenotypic spectrum is not yet understood, and it has been proposed that other genes or env ...
Functional Genomics
Functional Genomics

... understand function on a genome-wide scale. Are these approaches conceptually different from what biologists have been doing for many years, or is it just the scale on which experiments can be done that is different? One could argue, for example, that geneticists who have been conducting screens to ...
Understanding iron homeostasis through genetic
Understanding iron homeostasis through genetic

... pathogenesis of hemochromatosis (see “Hepcidin deficiency: a unifying pathogenetic cause”). Hemojuvelin: the common juvenile player. The most common gene of juvenile hemochromatosis mapping to the pericentromeric region of the long arm of chromosome 1 was recently identified.50 The gene (HFE2 or HJV ...
What is haemochromatosis?
What is haemochromatosis?

... Neonatal haemochromatosis. In this form, iron builds up very quickly in an infant's liver and can cause severe organ damage. Transfusion related haemochromatosis. This is a result of iron overload caused by many blood transfusions in patients with disorders that cause them to not make enough red blo ...
Dia 1
Dia 1

... CF, putative protein function • imbalance in water and ion transport in secreting epithelia • excessive salt loss in sweat • ‘84 normal efflux of chloride ions across epithelial cell membranes in response to cAMP increase is deficient ...
REVIEW ARTICLE Gene cassettes
REVIEW ARTICLE Gene cassettes

... *Cassettes are named after the gene they encode. However, the gene nomenclature used here may differ from that found in the original publications, and in many cases the genes have not previously been assigned names. As an agreed numbering system for the aacA and aatC genes is not currently available ...
Complete Thyroxine-Binding Globulin (TBG) Deficiency Produced
Complete Thyroxine-Binding Globulin (TBG) Deficiency Produced

... To evaluate the effect of this mutation on the splicing pattern, it was necessary to determine the sequence of TBG mRNA. TBG mRNA is transcribed in liver and therefore is not readily accessible for sampling. We attempted illegitimate amplification of TBG mRNA from peripheral blood leukocytes, as pre ...
Understanding the pathological manifestations of aromatase excess
Understanding the pathological manifestations of aromatase excess

... even a slight increase in the basal expression level causes detectable changes in androgen and estrogen levels in circulating blood. Epstein–Barr virus-transformed lymphocytes have been used as an alternate to primary cells for DNA analysis. Lymphocytes can also serve as research material for mRNA i ...
Variation in the Interleukin-6 Receptor Gene Associates With Type 2
Variation in the Interleukin-6 Receptor Gene Associates With Type 2

... in allele frequency and genotype distribution of the Asp358Ala polymorphism of the IL6R between 1,349 type 2 diabetic patients and 4,596 glucose-tolerant subjects applying a codominant as well as a recessive and dominant model of inheritance (Table 2). The Asp358-allele was more frequent among type ...
7.1 Introduction
7.1 Introduction

... Many of the fundamental genetic facts concerning studies of yeast came from the work of Øjvind Winge, whose work from the 1930s through the 1950s at the Carlsberg Laboratory in Denmark provided the critical foundation for modern yeast studies. Winge developed methods for dissecting tetrads (removing ...
Symposium Poster - uospur
Symposium Poster - uospur

... Abstract: Defects in the development and formation of synapses can cause neuronal and synaptic overgrowth, which can lead to many neurological disorders including autism. Previous studies have shown that defective FMR1 and ADAR genes result in synaptic overgrowth in Drosophila neuromuscular junction ...
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Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem lipo-, which is a variation on ""lipid"" or ""fat"", and from the term pigment, used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.
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