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Draft breeding policy - Balinese Breed Advisory Committee
Draft breeding policy - Balinese Breed Advisory Committee

... helpful to know about the ancestors of the cats when trying to predict the result of a mating. For example a black cat with a blue mother will carry dilute and so can produce blue offspring if mated to a blue, or to another carrier. But, though from the ancestry one can determine when a recessive al ...
Posttest Questions, Answers, and Rationale 1. All of the following
Posttest Questions, Answers, and Rationale 1. All of the following

... Rationale: The goal of vasoconstrictor therapy is to improve urine output and decrease SCr. The initial goal for titration is to increase the mean arterial pressure by > 10 mm Hg. An unintentional consequence of treating HRS is that improving renal function decreases a patient’s MELD score, which lo ...
Molecular genetics of macular dystrophies
Molecular genetics of macular dystrophies

... centres on the hypothesis that the thickened Bruch's membrane acts as a diffusive barrier between photoreceptors and their choroidal blood supply. Specifically, one study hypothesised that night blindness in SFD patients was caused by chronic photoreceptor deprivation of vitamin A.48 The results of ...
Hox gene regulation by C. elegans sop-3
Hox gene regulation by C. elegans sop-3

... the sequence contains motifs consisting of homopolymeric runs of amino acids found in several other transcriptional regulators, some of which also act in Hox gene regulatory pathways. The genetic properties of sop-3 are very similar to those of sop-1, which encodes a component of the transcriptional ...
Cancer Prone Disease Section Currarino syndrome Atlas of Genetics and Cytogenetics
Cancer Prone Disease Section Currarino syndrome Atlas of Genetics and Cytogenetics

... chemotherapeutic treatments. Carboplatin has recently replaced cisplatin as it is less nephro and ototoxic. Some patients may develop symptoms as a result of their renal or gynaecological malformation and these need to be managed appropriately. Spinal cord tethering is recognized and may recur requi ...
A clinician`s guide to the appropriate and accurate use of antibiotics
A clinician`s guide to the appropriate and accurate use of antibiotics

... Appropriate antibiotic therapy The first consideration in choosing appropriate antibiotic therapy should be whether there is an indication for an antimicrobial agent. Indications for an antibiotic include the unambiguous demonstration or the strong suspicion that the etiologic agent is bacterial. In ...
We need an optimality criterion to choose a best estimate (tree
We need an optimality criterion to choose a best estimate (tree

... Note that in this simple example: all three optimality criteria (parsimony, distance, and maximum likelihood) would have given us the same answer. This increases our confidence in the results. ...
Out of breath: GM-CSFR mutations disrupt surfactant
Out of breath: GM-CSFR mutations disrupt surfactant

... 5–13 of the CSF2RA gene, which prevented the expression of GM-CSFR␣ on the surface of circulating monocytes. The patient’s father and sibling, who were reportedly healthy, had two populations of monocytes, one that expressed GMCSFR␣ and one that did not. This observation is difficult to reconcile wi ...
Early Ambulation After Acute Deep Vein Thrombosis
Early Ambulation After Acute Deep Vein Thrombosis

... patient have physical therapy and/or ambulate?” Fear of causing a pulmonary embolism with increased activity drives this question. Often, an order for bed rest is prescribed based more on tradition than on evidence-based medicine. A review of the literature has provided an evidence-based answer to t ...
Gene overexpression reveals alternative
Gene overexpression reveals alternative

... increase in GCN4 mRNA translation, coupled with an extensive protein synthesis shut down. However, both phenomena are independent of Gcn2 function (Tzamarias et al., 1989). In addition, the assimilation of GCN4 mRNA translational derepression in vitro, does not require the Gcn2 kinase (Krupitza and ...
Chronic Lymphocytic Leukemia Emerging Management Strategies for
Chronic Lymphocytic Leukemia Emerging Management Strategies for

... leukemia (CLL) is heterogeneous. Whereas some patients require treatment relatively soon after diagnosis, others may enjoy a relatively indolent course, free of symptoms, and not require therapy for many years. Because studies in the 1990s found that early treatment may actually compromise patient s ...
Acidaminococcus intestini sp. nov., isolated from human clinical
Acidaminococcus intestini sp. nov., isolated from human clinical

... cocci that occur as single cells or in pairs. Individual cells are 0.5–0.6 mm in diameter. Colonies on Columbia sheep blood agar after 2 days incubation are about 0.3–0.5 mm in diameter, circular, convex, whitish with a smooth surface. Non-pigmented and non-haemolytic. Strictly anaerobic. Oxidase- a ...
DNA interference: DNA-induced gene silencing in the
DNA interference: DNA-induced gene silencing in the

... 5.5 h post-fertilization (hpf) (figure 3a). This phenotype was in accord with the result of RNAi-mediated knockdown of Ziclike1 (figure 3a). To investigate the effect of PCR-AChE (covering 819 bp), the amount of AChE protein was monitored by histochemical staining in 7 hpf larvae. In uninjected cont ...
Isolation and Characterization of Mutations in the b-Tubulin Gene of Saccharomyces cerevisiae .
Isolation and Characterization of Mutations in the b-Tubulin Gene of Saccharomyces cerevisiae .

... experiments. This plasmid contains an intact wild-type TUB2 gene subcloned on an EcoRI-SphI fragment into the same sites on YIp5 (see Figure 2). All DNAs for transformation into yeast were generated by digestion with at least a ten-fold excess of the appropriate enzymes. The cut DNA was phenol extra ...
Athersys, Inc. Overview 2016 Stifel Healthcare Conference
Athersys, Inc. Overview 2016 Stifel Healthcare Conference

Chapter 14: The Human Genome Section 14
Chapter 14: The Human Genome Section 14

... Sex-Linked Genes The X chromosome and the Y chromosomes ...
Polymorphisms of the PSD3 gene are associated with obesity in two
Polymorphisms of the PSD3 gene are associated with obesity in two

... and development. ...
congress brochure - RE(ACT) congress
congress brochure - RE(ACT) congress

... countries is waiting for you. Over the next days we will discuss progress in research of rare diseases and in issues of translational medicine. We will define a collaborative agenda of patient organization representatives, clinicians and scientists from both academia and industry in order to improve ...
Atopic Dermatitis Foundation Bibliographic news on atopic
Atopic Dermatitis Foundation Bibliographic news on atopic

... been known that the losses of function mutations are not the only genetic factor of atopic dermatitis. Variation in the number of intragenic copies also involved. Indeed, each exon 3 contains 10, 11, 12 similar repetitive sequences and the shortest genotype (10.10), which increases the risk of AD i ...
Nucleotide sequence changes in the MSX1 and IRF6 genes in
Nucleotide sequence changes in the MSX1 and IRF6 genes in

... mouse [22]. OFC, selective hypodontia, or dental anomalies associated with other ectodermal features are found with specific coding sequence mutations in the gene [20, 23]. Missense mutations in the MSX1 gene have been identified in 2% of patients with NS-OFC, predominantly CL / CP [24]. Nevertheles ...
genetic disorder of haemoglobin
genetic disorder of haemoglobin

... Major abnormalities & problems in SCA Sickling of the red cell during deoxygenation, as the HbS has low solubility at low O2 partial pressure and precipitates.  Chronic haemolytic anaemia due to repeated sickling in tissues and unsickling in the lungs.  Plugging of microcapillaries by rigid sick ...
MHC2TA Single Nucleotide Polymorphism and Genetic Risk for
MHC2TA Single Nucleotide Polymorphism and Genetic Risk for

... gene, named MHC2TA, has been mapped to chromosome 16p13 and is characterized by the presence of several single nucleotide polymorphisms (SNPs) in both the promoter type III (responsible for constitutive CIITA expression in B cells) and the coding sequence (5, 6). One such SNP, the ⫺168 A3 G in the h ...
Genetic Techniques for Biological Research Chapter8
Genetic Techniques for Biological Research Chapter8

... Information suppressors aremutations ingenesinvolvedin the transmission of information from DNA to protein.As such, they act by improving the expression of the mutant gene. Moreover, an information suppressorwill suppress any other gene, even those that are functionally unrelated to the original mut ...
Nebulized Glutathione - sunrise health services
Nebulized Glutathione - sunrise health services

... be completed once and range from about $20-$30. The treatment is delivered using a mask which costs $5. ...
The Jumping SHOX Gene—Crossover in the Pseudoautosomal
The Jumping SHOX Gene—Crossover in the Pseudoautosomal

... pseudoautosomal. The SHOX gene in the normal situation is present in two functional copies. In fact, one might consider PAR1 as a very small extra pair of autosomes (11), except that segregation in autosomes is independent of sex. Here we describe three families in which an abnormality in PAR1 segre ...
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Gene therapy



Gene therapy is the therapeutic delivery of nucleic acid polymers into a patient's cells as a drug to treat disease. Gene therapy could be a way to fix a genetic problem at its source. The polymers are either expressed as proteins, interfere with protein expression, or possibly correct genetic mutations.The most common form uses DNA that encodes a functional, therapeutic gene to replace a mutated gene. The polymer molecule is packaged within a ""vector"", which carries the molecule inside cells.Gene therapy was conceptualized in 1972, by authors who urged caution before commencing human gene therapy studies. By the late 1980s the technology had already been extensively used on animals, and the first genetic modification of a living human occurred on a trial basis in May 1989 , and the first gene therapy experiment approved by the US Food and Drug Administration (FDA) occurred on September 14, 1990, when Ashanti DeSilva was treated for ADA-SCID. By January 2014, some 2,000 clinical trials had been conducted or approved.Early clinical failures led to dismissals of gene therapy. Clinical successes since 2006 regained researchers' attention, although as of 2014, it was still largely an experimental technique. These include treatment of retinal disease Leber's congenital amaurosis, X-linked SCID, ADA-SCID, adrenoleukodystrophy, chronic lymphocytic leukemia (CLL), acute lymphocytic leukemia (ALL), multiple myeloma, haemophilia and Parkinson's disease. Between 2013 and April 2014, US companies invested over $600 million in the field.The first commercial gene therapy, Gendicine, was approved in China in 2003 for the treatment of certain cancers. In 2011 Neovasculgen was registered in Russia as the first-in-class gene-therapy drug for treatment of peripheral artery disease, including critical limb ischemia.In 2012 Glybera, a treatment for a rare inherited disorder, became the first treatment to be approved for clinical use in either Europe or the United States after its endorsement by the European Commission.
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