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Abdominal Aortic Aneurysms(AAA)
Abdominal Aortic Aneurysms(AAA)

Leukaemia Section del(17p) in myeloïd malignancies Atlas of Genetics and Cytogenetics
Leukaemia Section del(17p) in myeloïd malignancies Atlas of Genetics and Cytogenetics

... cytogenetic anomaly consisting of a deletion of the short arm of chromosome 17), and a particular form of morphological dysgranulopoiesis, we also found in such cases a strong correlation between 17p deletion and p53 mutation; these correlations suggest that ANLL and MDS with 17p deletion constitute ...
Obligate phototrophy in cyanobacteria: more than a lack of sugar
Obligate phototrophy in cyanobacteria: more than a lack of sugar

... acid sequence identity with, and a predictable structure similar to, that of a family of non-phosphorylating sugar carriers largely distributed among prokaryotes and eukaryotes. It thus appeared probable that the carrier of other facultative phototrophic cyanobacteria using glucose as substrate woul ...
Hereditary Fibrinogen Aα-Chain Amyloidosis
Hereditary Fibrinogen Aα-Chain Amyloidosis

... This means that the presence of just one copy of a mutated fibrinogen gene can cause the disease. Everybody receives two copies of the fibrinogen gene, one from each parent. People with AFib amyloidosis have just one affected parent. Each child of a person with AFib amyloidosis has a 50% (one in two ...
3: Scientific and Medical Aspects of Apheresis: Issues and Evidence
3: Scientific and Medical Aspects of Apheresis: Issues and Evidence

... enormously, both across and within disease indication categories. Appropriate outcome measures have at times focused on clinical improvement (i.e., improvement in signs and symptoms) often with reports of dramatic change. Clinical improvement measures, as defined in some apheresis studies, however, ...
Spinal Muscular Atrophy
Spinal Muscular Atrophy

... Increase Translation of SMN Stabilize Protein ...
HIV/AIDS Programme
HIV/AIDS Programme

... associated with lower rates of toxicity, especially peripheral neuropathy, compared to the 40 mg twice daily dose. Complementary studies have also demonstrated a significant reduction of mitochondrial DNA depletion in patients on the 30 mg twice daily dose. However, there are limited data available ...
A Guide for Patients, Survivors and Loved Ones
A Guide for Patients, Survivors and Loved Ones

... Lymphatic vessels carry lymph, a type of liquid that contains lymphocytes to help fight infection. Within this huge network of vessels are groups of small, bean-shaped organs called lymph nodes, which are also commonly known as “glands.” Thousands of lymph nodes are found at locations throughout t ...
American College of Medical Genetics standards
American College of Medical Genetics standards

Biology 30 June 1999 Grade 12 Diploma Exam
Biology 30 June 1999 Grade 12 Diploma Exam

... For hundreds of years, Chinese folk doctors have known an intriguing but mysterious fact. Drinking herbal tea brewed with a type of club moss (Huperzia serrata) can improve a person’s memory. About ten years ago, researchers at the Shanghai Institute of Materia Medica isolated a compound from the te ...
American College of Medical Genetics standards and guidelines for
American College of Medical Genetics standards and guidelines for

... No genes in interval. Generally, it is acceptable to adopt a laboratory policy not to report these CNVs, as there is no relevant literature to interrogate. An exception might be made if the CNV exceeds a size cutoff established by the laboratory or is located in close proximity to a well-characteriz ...
nonulcerative keratopathies of dogs and cats
nonulcerative keratopathies of dogs and cats

Family Secrets Part 4 - University of Rochester Medical Center
Family Secrets Part 4 - University of Rochester Medical Center

... 19. The gel box should not be moved once you have added buffer. If it is moved after the buffer is added, the samples may spill out of the wells. 20. Pour approximately 350-400 ml of electrophoresis buffer into the chambers at the ends of the gel. Pour slowly so that you do not wash the samples out ...
Part 4 - URMC - University of Rochester
Part 4 - URMC - University of Rochester

... 19. The gel box should not be moved once you have added buffer. If it is moved after the buffer is added, the samples may spill out of the wells. 20. Pour approximately 350-400 ml of electrophoresis buffer into the chambers at the ends of the gel. Pour slowly so that you do not wash the samples out ...
Feline Genetics: a Combinatorial Approach - MTMK-ICF
Feline Genetics: a Combinatorial Approach - MTMK-ICF

... effect which piles up with the others, yielding a more gradual combined result than a unique gene could account for. Sometimes we shall present two alternative mathematical models to explain the same effect. If the two models give the same effect in all cases, they are mathematically equivalent, alt ...
Advocating for Improved Treatment and Outcomes for Wet Age
Advocating for Improved Treatment and Outcomes for Wet Age

... research and development. The potential for angiogeneis-based medicines to advance modern medicine has been compared to that of antibiotics, which in the 20th century conquered many different previously untreatable diseases using a common approach. ...
Regulation of the S100B gene by α1-adrenergic - AJP
Regulation of the S100B gene by α1-adrenergic - AJP

... luciferase and CAT activity by following published techniques (7, 11). Cotransfection with any of the plasmids or treatment of cultures as described above did not affect CAT activity. The differences of the respective luciferase and CAT activities between duplicate dishes were ⬍10% of their mean. Lu ...
The msh2 Gene of Schizosaccharomyces pombe Is
The msh2 Gene of Schizosaccharomyces pombe Is

... MutL connects both complexes by binding to MutS and MutH. Upon complex formation, MutH is activated and initiates excision of the newly synthesized DNA strand, followed by resynthesis, resulting in intact duplex DNA (39, 45, 46, 47). Several MutS and MutL homologs have been identified in eukaryotes ...
Technical standards and guidelines for spinal muscular atrophy testing
Technical standards and guidelines for spinal muscular atrophy testing

Repair of Site-Specific DNA Double-Strand Breaks in
Repair of Site-Specific DNA Double-Strand Breaks in

... and May, 2003; Reiss, 2003). The GT efficiency can be increased by DSBs in the target sequence (e.g., Fauser et al., 2012; Puchta and Fauser, 2013; Qi et al., 2013). To increase GT in angiosperms in a controlled manner, it is necessary to know the circumstances under which DSBs are repaired along dif ...
Functional Genomics
Functional Genomics

A randomized controlled trial: Changes of serum sodium levels in
A randomized controlled trial: Changes of serum sodium levels in

... hyponatremia before the start of treatment, which can be caused by sodium loss through diarrhea and low salt intake. In this study, there are less patients who experienced hyponatremia before rehydration therapy, most of the patient in normonatremia. After rehydration therapy, we found that 3 patien ...
2012 National Guideline for the Management of Genital Herpes
2012 National Guideline for the Management of Genital Herpes

The SELF-PRUNING gene of tomato regulates
The SELF-PRUNING gene of tomato regulates

... RNA probes were done according to the manufacturer’s procedure (Boehringer Mannheim) as referred to in Pnueli et al. (1994) and Hareven et al. (1996). Antisense and sense cRNA probes were generated with the T3 and T7 polymerases from the opposing promoters of the BlueScript (SK+) vector (Stratagene) ...
A TaqI polymorphism in the 3 UTR of the IL-12
A TaqI polymorphism in the 3 UTR of the IL-12

... IL-12 genes and its receptors are associated with increased susceptibility to Th1-mediated infectious diseases. Sequencing of the IL-12 p40 gene revealed no polymorphism in the coding sequence, indicating a high level of conservation in humans. Several intronic polymorphisms however were identified, ...
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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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