general principles of human microbe interaction
Tài liệu Principles of pacemaker—myocardial interaction doc
... occurs because of hyperpolarization of the myocardial cell membranes due to delivery of electrical stimulation of a high output Strength–Duration Curve Another major determinant of threshold ... face of rising impedance is limited by the voltage capacity of the pacemaker For example, a pacemaker programmed to deliver a current of 10 mA with a V battery could maintain a constant current of ... patient had a current threshold of mA and if a wire with an unusually high impedance of 5,000 ω (because of a partial fracture) were in place, then a current setting of mA on the temporary pacemaker...
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Tài liệu General Principles of Constitutional and Administrative Law Fourth Edition ppt
... Rule of Law and the Separation of Powers 5.1 Introduction: The Nature and Purpose of the Rule of Law 5.2 The Core Meaning of the Rule of Law 5.3 The Extended Rule of Law 5.4 Dicey’s Version of ... Mullis and Ken Oliphant TORTS (3rd edn) General Principles of Constitutional and Administrative Law Fourth Edition John Alder Professor of Law, University of Newcastle upon Tyne With contributions ... The aims of this edition remain the same as those of previous editions: namely, to explain and discuss critically the general principles of the constitutional law and administrative law of the...
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the handbook of human-machine interaction a human-centered design approach
... Handbook of Human- Machine Interaction The Handbook of Human- Machine Interaction A Human- Centered Design Approach Edited by Guy A Boy Florida Institute of Technology, USA, Florida Institute for Human ... functions The fundamental postulate of the Theory of Activity is well summarized by Smirnov (1966): human becomes aware of the surrounding 28 The Handbook of Human- Machine Interaction world, by acting ... Socio-Cognitive Issues in Human- Centered Design for the Real World Saadi Lahlou 75 153 165 The Handbook of Human- Machine Interaction vi Cognitive Function Analysis in the Design of Human and Machine...
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Chapter 062. Principles of Human Genetics (Part 1) ppsx
... generation of genetic and physical maps by the Human Genome Project (HGP) The consequences of this wealth of knowledge for the practice of medicine are profound To date, the most significant impact of ... distinct forms of Alzheimer's disease, several of which lead to the formation of neurofibrillary tangles (Chap 365) The identification of defective genes often leads to the detection of cellular ... the genetic components that contribute to the pathogenesis of complex disorders The recent publication of a comprehensive catalogue of human single-nucleotide polymorphism (SNP) haplotypes, the...
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Chapter 062. Principles of Human Genetics (Part 1) pdf
... Mendelian disorders human of and genes causing genetic disorders Office of www4.od.nih.gov/oba/ Information Biotechnology about recombinant Activities DNA National Institutes of Health transfer ... MITOMAP, a Gene names and symbols http://www.mitomap.org/ A human compendium mitochondrial polymorphisms genome database and mutations of the of human mitochondrial Site URL Comment DNA Mitochondrial ... about Project (CGAP) gene expression profiles of normal, precancer, and cancer cells GenLink http://www.genlink.wustl.edu Multimedia database resource for human genetics and telomere research GeneTests...
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Chapter 062. Principles of Human Genetics (Part 4) ppsx
... Flow of genetic information Multiple extracellular signals activate intracellular signal cascades that result in altered regulation of gene expression through the interaction of transcription ... pairs of sister chromatids (2n →4n) The process of DNA synthesis requires stringent fidelity in order to avoid transmitting errors to subsequent generations of cells Genetic abnormalities of DNA ... (HNPCC), among others Many of these disorders strongly predispose to neoplasia because of the rapid acquisition of additional mutations (Chap 79) After completion of DNA synthesis, cells enter...
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Chapter 062. Principles of Human Genetics (Part 5) pot
... expression profiles, this knowledge may be of diagnostic and therapeutic relevance The large-scale study of expression profiles, which takes advantage of microarray technologies, is also referred ... involve sequences upstream (5') of the transcription start site, although there are also examples of control elements within introns or downstream of the coding regions of a gene The upstream regulatory ... state (2n) in the zygote Regulation of Gene Expression Mechanisms that regulate gene expression play a critical role in the function of genes The transcription of genes is controlled primarily by...
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Chapter 062. Principles of Human Genetics (Part 6) potx
... stabilize, components of the basal transcription complex that assembles at the site of the TATA box and initiator region This basal transcription factor complex consists of >30 different proteins ... signal Figure 62-5 A Examples of mutations The coding strand is shown with the encoded amino acid sequence B Chromatograms of sequence analyses after amplification of genomic DNA by polymerase ... Large deletions may affect a portion of a gene or an entire gene, whereas small deletions and insertions alter the reading frame if they not represent a multiple of three bases These "frameshift"...
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Chapter 062. Principles of Human Genetics (Part 7) potx
... helix-loop- MITF helix Waardenburg syndrome type 2A Homeobox IPF1 Maturity mellitus type onset of diabetes (heterozygous mutation/haploinsufficiency) Pancreatic agenesis (homozygous mutation) ... mobility SRY Sex-reversal HNF4α, Maturity-onset group (HMG) proteins Forkhead HNF1α, HNF1β Paired box of diabetes mellitus types 1, 3, PAX3 Waardenburg syndrome types and T-box TBX5 Holt-Oram syndrome ... other control proteins cancers Coactivators CREB binding Rubinstein-Taybi syndrome protein (CBP) General transcription factors TATAbinding Spinocerebellar ataxia 17 protein (CAG expansion) (TBP)...
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Chapter 062. Principles of Human Genetics (Part 8) docx
... however, it is useful to review briefly some of the fundamental principles of cloning and DNA sequencing Cloning of Genes Cloning refers to the creation of a recombinant DNA molecule that can be ... as gene activation in the control of cell differentiation and function Some mechanisms of repression are the corollary of activation For example, repression is often associated with histone deacetylation ... pattern of transcription factor expression changes dynamically Of course, these mechanisms are not mutually exclusive, and most genes are activated by some combination of these events Suppression of...
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Chapter 062. Principles of Human Genetics (Part 9) potx
... hybridization of RNA samples to cDNA or genomic microarrays This method has tremendous potential in the era of functional genomics and permits comprehensive analyses of gene expression profiles As ... measure of gene expression PCR provides a key component of molecular diagnostics It provides a strategy for the rapid amplification of DNA (or mRNA) to search for mutations by a wide array of techniques, ... examining the progression of fragment lengths generated in each of the four nucleotide reactions The use of fluorescently labeled dideoxynucleotides allows automated detection of the different bases...
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Chapter 062. Principles of Human Genetics (Part 10) docx
... used injection of transgene Genomic DNA or cDNA constructs Random integration of transgene Variable copy numbers of transgene Variable expression in each individual founder Gain -of- function models ... in Absence of phenotype embryonic stem cells possible due to redundancy (Targeted) Knock-in Introduction subtle of mutation(s) Predominantly used in mice into gene by substitution of endogenous ... Transgenic mice are generated by pronuclear injection of foreign DNA into fertilized mouse oocytes and subsequent transfer into the oviduct of pseudopregnant foster mothers Right For targeted mutagenesis...
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Chapter 062. Principles of Human Genetics (Part 12) pptx
... the identification of disease-causing genes by positional cloning Recent insights into the structure of the normal human genome show that certain blocks of DNA sequences, often containing numerous ... of chromosomal rearrangements and is thought to play an important role in normal human variation and in genetic disease The identification of the ~10 million SNPs estimated to occur in the human ... variable number of tandem repeats (VNTRs), RFLPs, microsatellite repeats, and SNPs; the latter two methods are now used predominantly because of the high density of markers and because...
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Chapter 062. Principles of Human Genetics (Part 13) pptx
... serious recessive genes However, completion of the human genome sequence, determination of the association of genetic defects with disease, and studies of genetic variation raise many new issues ... information about fundamental principles of genetics The pervasive nature of the role of genetics in medicine makes it imperative for physicians and other health care professionals to become more ... other markers of genetic predisposition, to be applied to many disorders One confounding aspect of the rapid expansion of information is that our ability to make clinical decisions often lags behind...
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Chapter 062. Principles of Human Genetics (Part 14) pps
... result in a perceptible phenotype Often they consist of single base-pair substitutions that not alter the protein coding sequence because of the degenerate nature of the genetic code (synonymous ... consequences of such a missense mutation, amino acid substitutions in different regions of the protein can lead to distinct phenotypes Polymorphisms are sequence variations that have a frequency of at ... insertions cause a shift of the codon reading frame (frameshift) Most commonly, reading frame alterations result in an abnormal protein segment of variable length before termination of translation occurs...
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Chapter 062. Principles of Human Genetics (Part 15) doc
... during gene conversion between related genes, often altering the function of the gene In disease states, gene conversion often involves intergenic exchange of DNA between a gene and a related pseudogene ... regions of 11β-hydroxylase fused to the coding sequence of aldosterone synthetase Consequently, the latter enzyme is expressed in the adrenocorticotropic hormone (ACTH)-dependent zona fasciculata of ... overproduction of mineralocorticoids and hypertension (Chap 336) Gene conversion refers to a nonreciprocal exchange of homologous genetic information; it is probably more common than generally recognized...
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Chapter 062. Principles of Human Genetics (Part 16) docx
... mutation (see below for discussion of anticipation) Trinucleotide expansion was first recognized as a cause of the fragile X syndrome, one of the most common causes of mental retardation Other disorders ... the cell cycle Functional Consequences of Mutations Functionally, mutations can be broadly classified as gain -of- function and loss -of- function mutations Gain -of- function mutations are typically ... and the ∆F508 deletion of phenylalanine (F) in the CFTR gene are examples of allelic variants of these genes that result in disease Because each individual has two copies of each chromosome (one...
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Chapter 062. Principles of Human Genetics (Part 17) pdf
... focuses on a panel of mutations that are particularly frequent (often taking the ethnic background of the patient into account), but a negative result does not exclude the presence of a mutation elsewhere ... genes involved in the pathogenesis of complex disorders (Table 62-1) The presence or absence of certain haplotypes may also become relevant for the customized choice of medical therapies (pharmacogenomics) ... the role of specific HLA allelic variants in susceptibility to these autoimmune diseases The recent characterization of common SNP haplotypes in four populations from different parts of the world...
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Chapter 062. Principles of Human Genetics (Part 18) ppt
... part, because of the requirement for a second mutation in the normal copy of the MEN1 gene, as well as the large array of different cell types that are susceptible to the effects of MEN1 gene ... see variable expression of a genetic disease Interactions with the environment can also influence the course of a disease For example, the manifestations and severity of hemochromatosis can be ... features of toxin- or drug-induced neurologic syndromes can resemble those seen in Huntington disease, and vascular causes of dementia share phenotypic features with familial forms of Alzheimer...
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Chapter 062. Principles of Human Genetics (Part 19) doc
... disease-causing genes Because of the variable size of gene deletions in different patients, a systematic comparison of phenotypes and locations of deletion breakpoints allows positions of particular genes ... discussion of disorders of chromosome number and structure, see Chap 63 Monogenic Mendelian Disorders Monogenic human diseases are frequently referred to as Mendelian disorders because they obey the principles ... differentiation, or later in childhood, because of the development of precocious puberty Hemochromatosis is more common in males than in females, presumably because of differences in dietary iron intake...
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