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Final Height of Patients with Pituitary Growth Failure and
Final Height of Patients with Pituitary Growth Failure and

... financial burden and must be carried out over many years, preferably until cessation of growth. Even though the treatment has ...
Circular of Information for the Use of Cellular Therapy Products
Circular of Information for the Use of Cellular Therapy Products

... fungi, protozoa, and prions. Donor screening and testing procedures are in place to minimize the risk of transmitting such infections but cannot eliminate this risk. Transmission of malignant disease has been reported. Also, serious life-threatening septic and toxic reactions can result from adminis ...
The Genetics of Beta-galactosidase
The Genetics of Beta-galactosidase

Understanding High-Dose Therapy with Stem Cell Rescue
Understanding High-Dose Therapy with Stem Cell Rescue

... BMT CTN trial of maintenance therapy with Revlimid following single ASCT for newly diagnosed myeloma was published in May 2015. The updated data reinforce the prior conclusion that both PFS and OS are improved with Revlimid maintenance. PFS is doubled with Revlimid versus placebo, and no median OS h ...
Molecular Genetic Testing For BRAF Mutations
Molecular Genetic Testing For BRAF Mutations

Genotype–phenotype correlations in nemaline myopathy caused by
Genotype–phenotype correlations in nemaline myopathy caused by

... rare causes of nemaline myopathy. Mutations in the gene for tropomyosin 3 (TPM3) have been identified in four kindreds [11 –15], and mutations in the gene for tropomyosin 2 (TPM2) in three patients in two unrelated families [16]. A severe form of nemaline myopathy with unusual associated features du ...
cloning of gs1 gene encodes glutamine synthetase 1 and
cloning of gs1 gene encodes glutamine synthetase 1 and

... - located isoform (GS1) and plastid – located isoform (GS2). Surveys have shown that GS1 gene was used widely to generate transgenic plants. Effects on the growth characteristics of GS1 transgenic plants have been reported in many researches. In this research, in order to prepare for generating GS1 ...
Mendelian inheritance - Center of Statistical Genetics
Mendelian inheritance - Center of Statistical Genetics

... people with normal stature are genotypically d/d, and the dwarf phenotype in principle could be D/d or D/D. However, it is believed that in D/D individuals the two "doses" of the D allele produce such a severe effect that this genotype is lethal. Therefore, all achondroplastics are heterozygotes. ...
Genome duplications and accelerated evolution of
Genome duplications and accelerated evolution of

... result of a lineage-specific duplication. This assumption was based on the fact that, at the time, no more than four representatives from each paralogous groups had been isolated from other divergent teleost lineages such as Medaka and the striped bass (Kurosawa et al., 1999; Pavell and Stellwag, 19 ...
Complex genetic background in a large family with Brugada syndrome
Complex genetic background in a large family with Brugada syndrome

... The Brugada syndrome (BrS) is an inherited arrhythmia characterized by ST-segment elevation in V1–V3 leads and negative T wave on standard ECG. BrS patients are at risk of sudden cardiac death (SCD) due to ventricular tachyarrhythmia. At least 17 genes have been proposed to be linked to BrS, althoug ...
Randomized Clinical Trials - Statistical Rules of Thumb
Randomized Clinical Trials - Statistical Rules of Thumb

Open the publication - UEF Electronic Publications
Open the publication - UEF Electronic Publications

... Even   though   this   thesis   excludes   almost   all   my   co-­‐‑written   and   published   data   with   stem   cells,   I’m   also   grateful   for   Professor   Jukka   Jolkkonen  to  our  co-­‐‑operation.  To  my  knowledge  we  have  total  of  four   publications   together   which   cons ...
2015 Global Forum Proceedings
2015 Global Forum Proceedings

... (vCJD), parvovirus B19, multiple system atrophy prion disease, and hepegivirus. Hepatitis E is the latest source of concern, with increasingly high levels of infectivity in normal blood donors. There are indications that viral inactivation procedures during fractionation are able to clear HEV, howev ...
Hepatitis and HIV
Hepatitis and HIV

... chronic hepatitis B with low HBV DNA Management of lamivudine-resistant chronic hepatitis B HIV/HBV coinfected individual not requiring HAART ...
Mapping of the Recessive White Locus and
Mapping of the Recessive White Locus and

... electrophoresis suggested that the C locus is the structural locus for tyrosinase in the fowl (Oetting et al., 1985). The tyrosinase gene in chickens has been cloned by Mochii et al. (1992). Tobita-Teramoto et al. (2000) reported that a 6-nucleotide deletion at a Cu-binding site of the tyrosinase ge ...
Efficient expression of ribozyme and reduction of stromelysin mRNA
Efficient expression of ribozyme and reduction of stromelysin mRNA

... extensively. Retroviruses and adeno-associated virus (AAV), by virtue of integrating into chromosomal DNA, are attractive gene delivery vehicles for the treatment of human disorders in which a long-term therapy is essential for an effective treatment. The attractive features of AAV as a vector are n ...
Waleed Abdellatief Abd elhleem _paper manuscript
Waleed Abdellatief Abd elhleem _paper manuscript

... autoimmune disease with a complex pathogenesis involving multiple genetic and environmental factors. The disease is characterized by autoantibody production, abnormalities of immune inflammatory system function and inflammatory manifestation in several organs. However, the complete etiology of SLE i ...
Aalborg Universitet Genetic risk factors of inflammatory bowel disease Ernst, Anja
Aalborg Universitet Genetic risk factors of inflammatory bowel disease Ernst, Anja

... Where monogenic diseases have recognisable inheritance patterns for recessive, autosomal dominant and gender-linked diseases which allows for exact calculation of risk of disease, the inheritance pattern of complex diseases are less evident. Complex diseases are associated with the effects of multip ...
PowerPoint - 埼玉医科大学総合医療センター 内分泌・糖尿病内科
PowerPoint - 埼玉医科大学総合医療センター 内分泌・糖尿病内科

Annotation mapping functions
Annotation mapping functions

... To map between different types of annotation data, you must first choose an annotation package for the appropiate organism. For cows there is the org.Bt.eg.db that maps between different identifers or bovine.db that maps the probes on an Affymatrix bovine chip. For humans there is also org.Hs.eg.db, ...
A Chromosome Assay Method for the Detection of
A Chromosome Assay Method for the Detection of

... There are 18 further h-c groups of A . nidulans known to date (Croft & Jinks, 1977). If more than two het gene differences are involved between a member of any one of these groups and a Glasgow master strain and particularly if the exact number of he?gene differences is not known, then it would be d ...
Full Text  - Erciyes Medical Journal
Full Text - Erciyes Medical Journal

... Cardiovascular diseases are in the first reason of mortality both neonatal and adult periods. Congenital heart defects are most frequent congenital abnormalities (9:10000) and only 15-20% of these patients can survive if untreated. Mendelian inheritance, chromosomal abnormalities (both aneuploidies ...
Slide 1
Slide 1

... • To test for under-enrichment of “black”, test for over-enrichment of “red”. • The EASE score used by DAVID subtracts one from the observed overlap between gene list and gene set to ensure >1 from the list is in the gene set. • Need to choose “background population” appropriately, e.g., if only por ...
2016 Mantle Cell Lymphoma Workshop Highlights Advances in
2016 Mantle Cell Lymphoma Workshop Highlights Advances in

... protein that is present in the vast majority of MCLs and has been associated with an aggressive disease course. In contrast, lack of SOX11 expression has been associated with longer survival and stable indolent disease in MCL. Dr. Amador and her colleagues have been working to understand how SOX11 c ...
Selected Properties of Darunavir Other names Prezista®, TMC
Selected Properties of Darunavir Other names Prezista®, TMC

... rats observed up to post natal day 26. Darunavir 100mg/ml oral suspension approved in Europe & US for use in antiretroviral therapy-experienced paediatric patients age 3 years and above, weighing at least 15 kg body weight. Suspension must be coadministered with low-dose ritonavir and must be taken ...
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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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