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GyrA mutations in Fluoroquinolone Resistant
GyrA mutations in Fluoroquinolone Resistant

... tested (ofloxacin, ciprofloxacin, levofloxacin, moxifloxacin, and gatifloxacin, respectively, MIC >32 µg/mL [Table]). Control isolates were susceptible to moxifloxacin and gatifloxacin (MICs 0.3, 0.2 µg/mL, respectively); however, these strains had reduced susceptibility to levofloxacin (MIC 3 µg/mL ...
TYPES OF GENE ACTION The interaction with in alleles of gene
TYPES OF GENE ACTION The interaction with in alleles of gene

... rrPp ...
Two novel heterozygous mutations of EVC2 cause a mild phenotype
Two novel heterozygous mutations of EVC2 cause a mild phenotype

... producing a truncated protein containing 241 amino acids. Given these possibilities, exon 6 skipping appears to be the most likely form of alternative splicing. A considerable number of EvC cases have already been screened for mutations, including the systematic screening of 65 EvC cases in which al ...
Physiological Genomics of Antidepressant Targets: Keeping the
Physiological Genomics of Antidepressant Targets: Keeping the

... harbor additional nonsynonymous NET mutations or have alterations in critical regulatory regions. OI, like depression or anxiety, is also likely to be a heterogeneous disorder with multiple genetic and environmental determinants. Indeed it is likely that OI in general is not attributable to a NET de ...
Combining Whole-exome and RNA-Seq Data Improves the Quality
Combining Whole-exome and RNA-Seq Data Improves the Quality

... “moderate” or “high” ...
Mutations in FUS, an RNA Processing Protein, Cause Familial
Mutations in FUS, an RNA Processing Protein, Cause Familial

... or H517Q FUS/TLS–GFP fusion proteins. Immunoblotting of fractions followed by immunostaining with an antibody to GFP demonstrated a substantially higher ratio of soluble cytosolic to soluble nuclear FUS/TLS for both mutants (Fig. 3B). Additionally, a higher ratio of total insoluble to soluble nuclea ...
POSTERIOR PITUITARY GLAND
POSTERIOR PITUITARY GLAND

... – But if sufficient fluid replacement is given to return blood volume to normal, the patient become unable to regulate vasopressin secretion by osmolality, giving rise to characteristic HDI ...
Genetics and Genomics
Genetics and Genomics

... Created by XMLmind XSL-FO Converter. ...
Origin of the eukaryotic cell
Origin of the eukaryotic cell

... from two mitochondrial transmembrane proteins HSP70 and HSP60. The trees were rooted with a paralog clade from endoplasmic reticulum, eukaryotes were the earliest derived clade in HSP70 tree, while in HSP60 tree, it is more related to Archaea as was observed from universal tree of life. A lateral ge ...
Minireview Shifty Ciliates: Frequent Programmed
Minireview Shifty Ciliates: Frequent Programmed

... gene occasionally shift reading frames and continue synthesis into pol, producing a Gag-Pol fusion protein. The frequency of this frameshift is as much as 10,000fold greater than the estimated rate of spontaneous translational frameshifting. The sequence of the region in and around the site of frame ...
L2- bone 1
L2- bone 1

... Plain X ray: cannot detect osteoporosis until 30% to 40% of bone mass has already disappeared. Dual-emission X-ray absorptiometry (DXA scan): is used primarily to evaluate bone mineral density, to diagnose and follow up pt. with osteoporosis. ...
Case-Parent Triads
Case-Parent Triads

... sense but relies instead on allele frequencies among diseased persons and their biologic parents. The key observation, made by Rubinstein et al. (1) in 1981, is that alleles associated with a given disease will occur more often in diseased persons than would have been expected based on the allele di ...
Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a
Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a

... CNTF gene leads to loss of 15%–20% of the motoneurons in postnatal mice (Masu et al. 1993). This loss appears well tolerated, and, despite a discrete loss of muscle strength, the mice appear healthy and reach normal age in the absence of any signs of motoneuron disease. In the human CNTF gene, a gua ...
CFTR mutation classifications toward genotype
CFTR mutation classifications toward genotype

... CF with milder single-organ phenotypes, this is not always the case. Whether the phenotype is "severe/mild" or "multi/single-organ" is not intrinsically linked to the classic or non-classic CF diagnosis. These are subjective terms, which should be used for descriptive purposes exclusively. The great ...
Exam 2
Exam 2

... and cannot repair any of the known deletions. Based upon these results, what can you infer about the properties and location of the mutation. Deletion mutation because cannot revert (could also be a double mutant). Removes at least part of deletion interval #3 c. Propose a genetic recombination expe ...
Molecular Genetic Testing For BRAF Mutations
Molecular Genetic Testing For BRAF Mutations

... et al. 2014]. Testing for this mutation may be useful for selecting initial therapy [Dadu et al 2014]. Metastatic colorectal cancer: The BRAF V600E mutation is found in approximately 14% of metastatic colorectal cancer (mCRC). At least one-half of BRAF mutations associated with mCRC are V600E. The p ...
THE FAT YOU CAN`T SEE
THE FAT YOU CAN`T SEE

... will predispose these individuals to both NAFLD and increased triglyceride concentrations in the blood. In transgenic mouse studies, Shulman’s team found that mice overexpressing human APOC3 developed both fatty liver and hepatic insulin resistance when fed a high-fat diet, supporting his theory t ...
Fall 2012 HHMI Bulletin: The Fat You Can`t See
Fall 2012 HHMI Bulletin: The Fat You Can`t See

... will predispose these individuals to both NAFLD and increased triglyceride concentrations in the blood. In transgenic mouse studies, Shulman’s team found that mice overexpressing human APOC3 developed both fatty liver and hepatic insulin resistance when fed a high-fat diet, supporting his theory t ...
Plant Genome Resources at the National Center for Biotechnology
Plant Genome Resources at the National Center for Biotechnology

... Devos et al., 1994; Kurata et al., 1994; Van Deynze et al., 1995). Locus nomenclature is organism specific and is unreliable as a query method between species; however, the regular nomenclature of plasmids (Lederberg, 1986) is not influenced by how the plasmid or insert is used. The data for the pla ...
Lesson Overview - Enfield High School
Lesson Overview - Enfield High School

... Some mutations arise from mutagens, chemical or physical agents in the environment. Chemical mutagens include certain pesticides, a few natural plant alkaloids, tobacco smoke, and environmental ...
Participation of the proteasomal lid subunit Rpn11 in mitochondrial
Participation of the proteasomal lid subunit Rpn11 in mitochondrial

... zinc active site chelated to the histidine and aspartate residues of the MPN+ motif, with a water molecule probably serving as the fourth ligand and active-site nucleophile [26,27]. These properties lie behind the assertion that members of this family could be hydrolytic enzymes for removal of ubiqu ...
Nat Clin Pract Nephrol
Nat Clin Pract Nephrol

... failure are observed, depending on the sex of the patient and the mode of transmission of the disorder Hypertension does not usually develop before the onset of chronic renal insufficiency Bilateral sensorineural hearing loss affecting high and middle frequencies is never congenital in Alport syndro ...
Case File 1: Hemophilia A
Case File 1: Hemophilia A

... • The phenotype of X-linked conditions is determined by a gene on the X chromosome. • Because females have two X chromosomes, they have two copies of all the genes on the X chromosome. If one copy of an X-linked gene is not functional, females have a second copy of the gene (on their second X chromo ...
Chapter 2 Patterns of Inheritance Chapter 2 Patterns of Inheritance
Chapter 2 Patterns of Inheritance Chapter 2 Patterns of Inheritance

... an A /A plant is said to be homozygous dominant; an a /a plant is homozygous for the recessive allele, or homozygous recessive. As stated in Chapter 1 , the designated genetic constitution of the character or characters under study is called the genotype. Thus, Y /Y and Y /y , for example, are diffe ...
Prediction and Validation of Gene-Disease Associations
Prediction and Validation of Gene-Disease Associations

... phenotypes that share a higher than expected number of orthologous genes. In this way, a number of new, and often surprising, model systems were found for human diseases. For instance, the human neural crest related developmental disorder Waardenburg syndrome shares gene modules with gravitropism (t ...
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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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