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12864_2008_1659_MOESM3_ESM
12864_2008_1659_MOESM3_ESM

... sequence similarity, we assume that YWHAB spawned the retrogene YWHAH. The latter covers all of the exons (no corresponding introns) of the parent gene and has been preserved from fish to mammals. After the retroposition event, YWHAG probably was derived from YWHAH, or vice versa, by segmental dupli ...
Annex I: CSP
Annex I: CSP

... of potential benefits and potential risk. Pregnant women considering the use of Retrovir during pregnancy for prevention of HIV transmission to their infants should be advised that transmission may still occur in some cases despite therapy. The efficacy of zidovudine to reduce the maternal-foetal tr ...
Adverse Event Reporting Requirements
Adverse Event Reporting Requirements

Gene Section FUT8 (fucosyltransferase 8 (alpha (1,6) fucosyltransferase))
Gene Section FUT8 (fucosyltransferase 8 (alpha (1,6) fucosyltransferase))

... cancer rather than other diseases such as HCC, liver cirrhosis, gastric cancer and colon cancer, and also appeared to be correlated with the clinical stage. Structural analyses using lectin blotting and mass spectrometry showed that core fucosylation as well as alpha1,3/4-fucosylation is increased i ...
Genetic Disorders: Implications for Allied Health
Genetic Disorders: Implications for Allied Health

... based solely on diagnosis. In general, opportunities for education, recreation, or vocation could be curtailed. For these reasons, as well as the natural inclination of an individual to not want to know his or her fate, many people are unwilling to undergo genetic testing. This paper will demonstrat ...
How to put Together the IND Application (CBER) - M
How to put Together the IND Application (CBER) - M

The Biomedical Therapies
The Biomedical Therapies

Genetic predisposition to sarcoidosis: another brick in the wall EDITORIAL
Genetic predisposition to sarcoidosis: another brick in the wall EDITORIAL

... African–American sarcoidosis patients, and further studies in non-Europeans are likely to reveal intriguing new findings [25]. GWASs have not explained as much of the genetic components of many diseases, including sarcoidosis, as was anticipated. As the power of the GWAS approach increases with acce ...
Name: Date: Title: Problem Solving Techniques. Introduction. The
Name: Date: Title: Problem Solving Techniques. Introduction. The

... Calculate the map distance and crossover frequency between the two genes. (16) Two loci, a and b, are separated by 15 map units. What is the expected frequency of progeny of normal phenotype from a testcross involving an a+b /a b+ parent? (17) In Drosophila, the gene clot (cl) affects eye colour, th ...
bio genetics review guide - Google Docs
bio genetics review guide - Google Docs

... two  X  chromosomes,  they  need  to  inherit  two  bad  X  chromosomes  to  become  afflicted  with  the   disease.  This  is  not  likely  to  happen  so  women  with  sex-­‐linked  disorders  are  very  rare.  Men  however   only ...
Lecture PPT - Carol Lee Lab - University of Wisconsin–Madison
Lecture PPT - Carol Lee Lab - University of Wisconsin–Madison

... Changes in Gene Expression -- Genomic imprinting: where methylation and histone modifications alter gene expression without altering the genetic sequence. When inherited, these “epigenetic marks” are established in the germline and are maintained throughout all somatic cells of an organism. ...
Study Guide for Exam I
Study Guide for Exam I

... class we briefly discussed one type of aneuploid, the calico male cat who was XXY. A mating of a black female and an orange male could also result in a second type of aneuploid, XXX. Assume that this aneuploid inherited two X chromosomes from its mother and one X chromosome from its father. Based on ...
Genetics Part 1: Inheritance of Traits
Genetics Part 1: Inheritance of Traits

supplementary material
supplementary material

... effectively by taking into account two distinct types of genetic regulation: cis- and transregulation. In the case of cis-regulation, a cis-eQTL affects a particular etrait X and is located at the physical location of gene X on a chromosome. The polymorphism of a ciseQTL likely corresponds to a prom ...
Leukaemia Section t(14;19)(q32;q13) IGH/CEBPA Atlas of Genetics and Cytogenetics in Oncology and Haematology
Leukaemia Section t(14;19)(q32;q13) IGH/CEBPA Atlas of Genetics and Cytogenetics in Oncology and Haematology

... DDIT3/CHOP/CEBP zeta (12q13), so far known to be involved in solid tumours (liposarcoma). These transcription factors play a key role in cellular differentiation, in particular in the control of myeloid differentiation. CEBPA is composed of an N-term transactivation domain, a negative regulatory dom ...
GM Whaet field trial approvals
GM Whaet field trial approvals

... GM wheat in Australia There has been no commercial release of GM wheat in Australia, and the OGTR has not received any licence applications for the commercial release of GM wheat. Since 2005, the Regulator has issued 18 licences for small field trials of GM wheat. Seven of these licences are still c ...
Interdisciplinary Work and the Scientific Basis for Visceral
Interdisciplinary Work and the Scientific Basis for Visceral

... grow as measured by patient visits and dollars spent for care (Eisenberg, 1993). Dollars spent even when they are not reimbursed by health insurance but come out of the patient’s pocket. The National Institutes of Health (NIH) have recognized the need for interdisciplinary health research and have d ...
Evolution by gene duplication: an update
Evolution by gene duplication: an update

... among species (e.g. immunity, reproduction and sensory systems) probably having high rates of gene birth and death. Pseudogenization Gene duplication generates functional redundancy, as it is often not advantageous to have two identical genes. In other words, mutations disrupting the structure and f ...
Activity 2, The Meaning of Genetic Variation
Activity 2, The Meaning of Genetic Variation

Limitations of Pseudogenes in Identifying Gene Losses
Limitations of Pseudogenes in Identifying Gene Losses

... traditionally involved comparisons between orthologous protein-coding sequences. Such comparisons can identify rapidly evolving genes whose high rate of evolution may indicate adaptive natural selection (e.g. ref. [1]). Recent extensions to this approach have further considered non-coding sequences ...
Localization of CSNBX (CSNB4) between the retinitis
Localization of CSNBX (CSNB4) between the retinitis

Parblue? Turquoise? - Agapornis
Parblue? Turquoise? - Agapornis

... Why can’t all the other names be abolished and we can then have 1 uniform name and lose about 15 unnecessary names!? This is not aimed at you breeders/hobbyists, because you have to follow the nomenclature your club/societies use. I don’t expect you to suddenly start calling it turquoise, but hopefu ...
Patents 101 - The Zhao Bioinformatics Laboratory
Patents 101 - The Zhao Bioinformatics Laboratory

... I (1375 genes) intrinsic/ab initio/inferred/hypothetical: the gene call is based only on intrinsic prediction tools such as FGENESH, Genscan or Eugene, and no significant alignments to other sequences are available. The length of the prediction is greater than 300 bp or there is a significant domain ...
cystic fibrosis for health professionals
cystic fibrosis for health professionals

... and result in decreases in insulin producing beta cells (Ornstein, Rosentstein, & Stern, 2000). CFRD is rare under 10 years of age and in Australia affects approximately 30% of adults by 30 years of age (CFA, 2013). All CF patients should be screened for diabetes annually from 10yrs of age. The onse ...
Genetic Testing for Inherited Eye disease called Into
Genetic Testing for Inherited Eye disease called Into

... which is reimbursable by most health care providers including Medicare, the health care system may save money through earlier identification and treatment of high-risk patients, according to Dr. Zanke. Based on early economic analyses (unpublished data), if only 1 out of 400 of the patients who pres ...
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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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