Relevant bibliographies by topics / Gene therapy; Genetic diseases

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Gene therapy; Genetic diseases'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Gene therapy; Genetic diseases"

1

Kohn, Donald B., W. French Anderson, and R. Michael Blaese. "Gene Therapy for Genetic Diseases." Cancer Investigation 7, no. 2 (January 1989): 179–92. http://dx.doi.org/10.3109/07357908909038283.

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Desnick, Robert J., and Edward H. Schuchman. "Gene therapy for genetic diseases." Pediatrics International 40, no. 3 (June 1998): 191–203. http://dx.doi.org/10.1111/j.1442-200x.1998.tb01912.x.

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Rasko AO, John. "Progress in gene therapy for genetic diseases." Pathology 48 (February 2016): S39. http://dx.doi.org/10.1016/j.pathol.2015.12.102.

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McIvor, R. Scott. "Gene therapy of genetic diseases and cancer." Pediatric Transplantation 3 (November 1999): 116–21. http://dx.doi.org/10.1034/j.1399-3046.1999.00050.x.

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Wilson, James M. "Genetic Diseases, Immunology, Viruses, and Gene Therapy." Human Gene Therapy 25, no. 4 (April 2014): 257–61. http://dx.doi.org/10.1089/hum.2014.2511.

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Wei, Chunjiang, Weijia Kong, and Zuhong He. "Application of gene therapy in auditory system diseases." STEMedicine 1, no. 1 (January 2, 2020): e17. http://dx.doi.org/10.37175/stemedicine.v1i1.17.

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How to prevent and treat auditory related diseases through genetic intervention is a hotspot in the field of hearing research in recent years. With the development of molecular biology, molecular genetics, genetic engineering, etc., especially, gene regulation has made a major breakthrough in the research of inner ear hair cell regeneration in recent years, which may provide us with a novel and efficient way to treat auditory related diseases. This review includes the latest research on gene therapy in hereditary deafness, drug deafness, aging-related hearing loss, and noise-related hearing loss.
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Davis, Lori, and Frank Park. "Gene therapy research for kidney diseases." Physiological Genomics 51, no. 9 (September 1, 2019): 449–61. http://dx.doi.org/10.1152/physiolgenomics.00052.2019.

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A resurgence in the development of newer gene therapy systems has led to recent successes in the treatment of B cell cancers, retinal degeneration and neuromuscular atrophy. Gene therapy offers the ability to treat the patient at the root cause of their malady by restoring normal gene function and arresting the pathological progression of their genetic disease. The current standard of care for most genetic diseases is based upon the symptomatic treatment with polypharmacy while minimizing any potential adverse effects attributed to the off-target and drug-drug interactions on the target or other organs. In the kidney, however, the development of gene therapy modifications to specific renal cells has lagged far behind those in other organ systems. Some positive strides in the past few years provide continued enthusiasm to invest the time and effort in the development of new gene therapy vectors for medical intervention to treat kidney diseases. This mini-review will systematically describe the pros and cons of the most commonly tested gene therapy vector systems derived from adenovirus, retrovirus, and adeno-associated virus and provide insight about their potential utility as a therapy for various types of genetic diseases in the kidney.
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Bunnell, Bruce A., and Richard A. Morgan. "Gene Therapy for Infectious Diseases." Clinical Microbiology Reviews 11, no. 1 (January 1, 1998): 42–56. http://dx.doi.org/10.1128/cmr.11.1.42.

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SUMMARY Gene therapy is being investigated as an alternative treatment for a wide range of infectious diseases that are not amenable to standard clinical management. Approaches to gene therapy for infectious diseases can be divided into three broad categories: (i) gene therapies based on nucleic acid moieties, including antisense DNA or RNA, RNA decoys, and catalytic RNA moieties (ribozymes); (ii) protein approaches such as transdominant negative proteins and single-chain antibodies; and (iii) immunotherapeutic approaches involving genetic vaccines or pathogen-specific lymphocytes. It is further possible that combinations of the aforementioned approaches will be used simultaneously to inhibit multiple stages of the life cycle of the infectious agent.
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Chaum, Edward, and Mark P. Hatton. "Gene Therapy for Genetic and Acquired Retinal Diseases." Survey of Ophthalmology 47, no. 5 (September 2002): 449–69. http://dx.doi.org/10.1016/s0039-6257(02)00336-3.

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Berger, Adeline, Séverine Maire, Marie-Claude Gaillard, José-Alain Sahel, Philippe Hantraye, and Alexis-Pierre Bemelmans. "mRNAtrans-splicing in gene therapy for genetic diseases." Wiley Interdisciplinary Reviews: RNA 7, no. 4 (March 28, 2016): 487–98. http://dx.doi.org/10.1002/wrna.1347.

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Dissertations / Theses on the topic "Gene therapy; Genetic diseases"

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Choudhury, Sourav Roy. "Developing an Adeno-Associated Viral Vector (AAV) Toolbox for CNS Gene Therapy: A Dissertation." eScholarship@UMMS, 2001. http://escholarship.umassmed.edu/gsbs_diss/809.

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Neurological disorders – disorders of the brain, spine and associated nerves – are a leading contributor to global disease burden with a sizable economic cost. Adeno-associated viral (AAV) vectors have emerged as an effective platform for CNS gene therapy and have shown early promise in clinical trials. These trials involve direct infusion into brain parenchyma, an approach that may be suboptimal for treatment of neurodegenerative disorders, which often involve more than a single structure in the CNS. However, overall neuronal transduction efficiency of vectors derived from naturally occurring AAV capsids after systemic administration is relatively low. We have developed novel capsids AAV-AS and AAV-B1 that lead to widespread gene delivery throughout the brain and spinal cord, particularly to neuronal populations. Both transduce the adult mouse brain >10-fold more efficiently than the clinical gold standard AAV9 upon intravascular infusion, with gene transfer to multiple neuronal sub-populations. These vectors are also capable of neuronal transduction in a normal cat. We have demonstrated the efficacy of AAV-AS in the context of Huntington's disease by knocking down huntingtin mRNA 33-50% after a single intravenous injection, which is better than what can be achieved by AAV9 at the particular dose. AAVB1 additionally transduces muscle, beta cells, pulmonary alveoli and retinal vasculature at high efficiency, and has reduced sensitivity to neutralizing antibodies in human sera. Generation of this vector toolbox represents a major step towards gaining genetic access to the entire CNS, and provides a platform to develop new gene therapies for neurodegenerative disorders.
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Choudhury, Sourav Roy. "Developing an Adeno-Associated Viral Vector (AAV) Toolbox for CNS Gene Therapy: A Dissertation." eScholarship@UMMS, 2016. https://escholarship.umassmed.edu/gsbs_diss/809.

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Neurological disorders – disorders of the brain, spine and associated nerves – are a leading contributor to global disease burden with a sizable economic cost. Adeno-associated viral (AAV) vectors have emerged as an effective platform for CNS gene therapy and have shown early promise in clinical trials. These trials involve direct infusion into brain parenchyma, an approach that may be suboptimal for treatment of neurodegenerative disorders, which often involve more than a single structure in the CNS. However, overall neuronal transduction efficiency of vectors derived from naturally occurring AAV capsids after systemic administration is relatively low. We have developed novel capsids AAV-AS and AAV-B1 that lead to widespread gene delivery throughout the brain and spinal cord, particularly to neuronal populations. Both transduce the adult mouse brain >10-fold more efficiently than the clinical gold standard AAV9 upon intravascular infusion, with gene transfer to multiple neuronal sub-populations. These vectors are also capable of neuronal transduction in a normal cat. We have demonstrated the efficacy of AAV-AS in the context of Huntington's disease by knocking down huntingtin mRNA 33-50% after a single intravenous injection, which is better than what can be achieved by AAV9 at the particular dose. AAVB1 additionally transduces muscle, beta cells, pulmonary alveoli and retinal vasculature at high efficiency, and has reduced sensitivity to neutralizing antibodies in human sera. Generation of this vector toolbox represents a major step towards gaining genetic access to the entire CNS, and provides a platform to develop new gene therapies for neurodegenerative disorders.
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Ross, Colin J. D. "Immuno-isolation gene therapy for lysosomal storage disease /." *McMaster only, 2001.

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Heller, Raoul. "Engineering of human artificial mini-chromosomes." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360317.

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Ahmed, Seemin Seher. "rAAV-Mediated Gene Transfer For Study of Pathological Mechanisms and Therapeutic Intervention in Canavan's Disease: A Dissertation." eScholarship@UMMS, 2014. https://escholarship.umassmed.edu/gsbs_diss/749.

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Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant adeno associated viruses (rAAVs). We first investigated the CNS gene transfer abilities of rAAV vectors that can cross the blood-brain-barrier in neonatal and adult mice and subsequently used different rAAV serotypes such as rAAV9, rAAVrh.8 and rAAVrh.10 for gene replacement therapy. A single intravenous injection rescued lethality, extended survival and corrected several disease phenotypes including motor dysfunctions. For the first time we demonstrated the existence of a therapeutic time window in the mouse model. In order to limit off-target effects of viral delivery we employed a synthetic strategy using microRNA mediated posttranscriptional detargeting to restrict rAAV expression in the CNS. We followed up with another approach to limit peripheral tissue distribution. Strikingly, we demonstrate that intracerebroventricular administration of a 50-fold lower vectors dose can rescue lethality and extend survival but not motor functions. We also study the contributions of several peripheral tissues in a primarily CNS disorder and examine several molecular attributes behind pathogenesis of Canavan’s disease using primary neural cell cultures. In summary, this thesis describes the potential of novel rAAV-mediated gene replacement therapy in Canavan’s disease and the use of rAAVs as a tool to tease out its pathological mechanism.
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Ahmed, Seemin Seher. "rAAV-Mediated Gene Transfer For Study of Pathological Mechanisms and Therapeutic Intervention in Canavan's Disease: A Dissertation." eScholarship@UMMS, 2012. http://escholarship.umassmed.edu/gsbs_diss/749.

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Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant adeno associated viruses (rAAVs). We first investigated the CNS gene transfer abilities of rAAV vectors that can cross the blood-brain-barrier in neonatal and adult mice and subsequently used different rAAV serotypes such as rAAV9, rAAVrh.8 and rAAVrh.10 for gene replacement therapy. A single intravenous injection rescued lethality, extended survival and corrected several disease phenotypes including motor dysfunctions. For the first time we demonstrated the existence of a therapeutic time window in the mouse model. In order to limit off-target effects of viral delivery we employed a synthetic strategy using microRNA mediated posttranscriptional detargeting to restrict rAAV expression in the CNS. We followed up with another approach to limit peripheral tissue distribution. Strikingly, we demonstrate that intracerebroventricular administration of a 50-fold lower vectors dose can rescue lethality and extend survival but not motor functions. We also study the contributions of several peripheral tissues in a primarily CNS disorder and examine several molecular attributes behind pathogenesis of Canavan’s disease using primary neural cell cultures. In summary, this thesis describes the potential of novel rAAV-mediated gene replacement therapy in Canavan’s disease and the use of rAAVs as a tool to tease out its pathological mechanism.
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Yogalingam, Gouri. "Molecular characterisation of feline MPS VI and evaluation of gene therapy /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phy54.pdf.

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Carty, Nikisha Christine. "Recombinant AAV Gene Therapy and Delivery." Scholar Commons, 2009. https://scholarcommons.usf.edu/etd/1890.

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Alzheimer's disease (AD), first characterized in the early 20th century, is a common form of dementia which can occur as a result of genetic mutations in the genes encoding presenilin 1, presenilin 2, or amyloid precursor protein (APP). These genetic alterations can accelerate the pathological characteristics of AD, including the formation of extracellular neuritic plaques composed of amyloid beta peptides and the formation of intracellular neurofibrillary tangles consisting of hyperphosphorylated tau protein. Ultimately, AD results in gross neuron loss in the brain which is evidenced clinically as a progressive decline in mental capacity. A strong body of scientific evidence has previously demonstrated that the driving factor in the pathogenesis of AD is potentially the accumulation of Aß peptides in the brain. Thus, reduction of Aß deposition is a major therapeutic strategy in the treatment of AD. Recently it has been suggested that Aß accumulation in the brain is modulated, not only by Aß production, but also by its degradation. Several important studies have demonstrated that Aß degradation is modulated by several endogenous zinc metalloproteases shown to have amyloid degrading capabilities. These endogenous proteases include neprilysin (NEP), endothelin converting enzyme (ECE), insulin degrading enzyme (IDE) and matrix metalloprotease 9 (MMP9). In this investigation we study the effects of upregulating expression of several of these proteases through administration of recombinant adeno-associated viral vector (rAAV) containing both endogenous and synthetic genes for ECE and NEP on amyloid deposition in amyloid precursor protein (APP) plus presenilin-1 (PS1) transgenic mice. rAAV administration directly into the brain resulted in increased expression of ECE and NEP and a substantial decrease in amyloid pathology. We were able to significantly increase the area of viral distribution by using novel delivery methods resulting in increased gene expression and distribution. These data support great potential of gene therapy as a method of treatment for neurological diseases. Optimization of gene transfer methods aimed at a particular cell type and brain region in the CNS can be accomplished using AAV serotype specificity and novel delivery techniques leading to successful gene transduction thus providing a promising therapeutic avenue through which to treat AD.
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Limberis, Maria. "A lentiviral gene transfer vector for the treatment of cystic fibrosis airway disease." Title page, synopsis and list of contents only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phl735.pdf.

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"16th September 2002." Accompanying CD contains 2 MPEG clips with accompanying text, and a copy in PDF format of: Recovery of airway cystic fibrosis transmembrane conductance regulator function in mice with cystic fibrosis after single-dose lentivirus-mediated gene transfer / M. Limberis ... [et al.], published in Human gene therapy vol. 13 (2002). Bibliography: leaves xxix-li. This thesis focuses on modulating the physical barriers of the airway epithelium with mild detergents, so as to enhance gene transfer by a HIV-1 based lentivirus vector in vivo. The efficiency of the gene transfer was evaluated in the nasal airway of C57B1/6 mice using the Lac Z marker gene. This demonstration of lentivirus-mediated in vivo recovery of CFTR function in CF airway epithelium illustrated the potential of combining a pre-conditioning of the airway surface with a simple and brief HIV-1 based gene transfer vector exposure to produce therapeutic gene expression in the intact airway.
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Foster, Robert Graham. "Development of a modular in vivo reporter system for CRISPR-mediated genome editing and its therapeutic applications for rare genetic respiratory diseases." Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/33040.

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Rare diseases, when considered as a whole, affect up to 7% of the population, which would represent 3.5 million individuals in the United Kingdom alone. However, while 'personalised medicine' is now yielding remarkable results using recent sequencing technologies in terms of diagnosing genetic conditions, we have made much less headway in translating this patient information into therapies and effective treatments. Even with recent calls for greater research into personalised treatments for those affected by a rare disease, progress in this area is still severely lacking, in part due to the astronomical cost and time involved in bringing treatments to the clinic. Gene correction using the recently-described genome editing technology CRISPR/Cas9, which allows precise editing of DNA, offers an exciting new avenue of treatment, if not cure, for rare diseases; up to 80% of which have a genetic component. This system allows the researcher to target any locus in the genome for cleavage with a short guide-RNA, as long as it precedes a highly ubiquitous NGG sequence motif. If a repair sequence is then also provided, such as a wild-type copy of the mutated gene, it can be incorporated by homology-directed repair (HDR), leading to gene correction. As both guide-RNA and repair template are easily generated, whilst the machinery for editing and delivery remain the same, this system could usher in the era of 'personalised medicine' and offer hope to those with rare genetic diseases. However, currently it is difficult to test the efficacy of CRISPR/Cas9 for gene correction, especially in vivo. Therefore, in my PhD I have developed a novel fluorescent reporter system which provides a rapid, visual read-out of both non-homologous end joining (NHEJ) and homology-directed repair (HDR) driven by CRISPR/Cas9. This system is built upon a cassette which is stably and heterozygously integrated into a ubiquitously expressed locus in the mouse genome. This cassette contains a strong hybrid promoter driving expression of membrane-tagged tdTomato, followed by a strong stop sequence, and then membrane-tagged EGFP. Unedited, this system drives strong expression of membrane-tdTomato in all cell types in the embryo and adult mouse. However, following the addition of CRISPR/Cas9 components, and upon cleavage, the tdTomato is rapidly excised, resulting via NHEJ either in cells without fluorescence (due to imperfect deletions) or with membrane-EGFP. If a repair template containing nuclear tagged-EGFP is also supplied, the editing machinery may then use the precise HDR pathway, which results in a rapid transition from membrane-tdTomato to nuclear- EGFP. Thereby this system allows the kinetics of editing to be visualised in real time and allows simple scoring of the proportion of cells which have been edited by NHEJ or corrected by HDR. It therefore provides a simple, fast and scalable manner to optimise reagents and protocols for gene correction by CRISPR/Cas9, especially compared to sequencing approaches, and will prove broadly useful to many researchers in the field. Further to this, I have shown that methods which lead to gene correction in our reporter system are also able to partially repair mutations found in the disease-causing gene, Zmynd10; which is implicated in the respiratory disorder primary ciliary dyskinesia (PCD), for which there is no effective treatment. PCD is an autosomal-recessive rare disorder affecting motile cilia (MIM:244400), which results in impaired mucociliary clearance leading to neonatal respiratory distress and recurrent airway infections, often progressing to lung failure. Clinically, PCD is a chronic airway disease, similar to CF, with progressive deterioration of lung function and lower airway bacterial colonization. However, unlike CF which is monogenic, over 40 genes are known to cause PCD. The high genetic heterogeneity of this rare disease makes it well suited to such a genome editing strategy, which can be tailored for the correction of any mutated locus.
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Books on the topic "Gene therapy; Genetic diseases"

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Panno, Joseph. Gene therapy: Treatments and cures for genetic diseases. New York,NY: Facts On File, 2011.

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Understanding gene therapy. Oxford, UK: BIOS Scientific Publishers, 1999.

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S, Rajadhyaksha Medha, ed. New biology and genetic diseases. New Delhi: Oxford University Press, 1999.

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Institute of Medicine (U.S.). Meeting, ed. Human gene therapy. Cambridge, Mass: Harvard University Press, 1988.

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Duan, Dongsheng. Muscle gene therapy. New York: Springer, 2010.

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B, Burck Kathy, ed. Gene therapy: Application of molecular biology. New York: Elsevier, 1991.

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Lyon, Jeff. Altered fates: Gene therapy and the retooling of human life. New York: Norton, 1995.

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Monaco), Miami Bio/Technology European Symposium (1994. Advances in gene technology: Molecular biology of human genetic disease. Oxford: IRL Press at Oxford University Press, 1994.

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L, Beaudet Arthur, Mulligan Richard, and Verma Inder M, eds. Gene transfer and gene therapy: Proceedings of an E.I. du Pont de Nemours-UCLA Symposium, held at Tamarron, Colorado, February 6-12, 1988. New York: Liss, 1989.

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Muscle gene therapy: Methods and protocols. New York, NY: Humana, 2011.

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Book chapters on the topic "Gene therapy; Genetic diseases"

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Wynshaw-Boris, Anthony, Carrolee Barlow, Amy Chen, Michael Gambello, Lisa Garrett, Theresa Hernandez, Shinji Hirotsune, et al. "Modeling Genetic Diseases in the Mouse." In Gene Therapy, 37–44. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72160-1_3.

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Vigne, E., J. F. Dedieu, C. Orsini, M. Latta, B. Klonjkowski, E. Prost, M. M. Lakich, et al. "Improvement of Adenoviral Vectors for Human Gene Therapy." In Genetic Approaches to Noncommunicable Diseases, 113–31. Berlin, Heidelberg: Springer Berlin Heidelberg, 1996. http://dx.doi.org/10.1007/978-3-642-61028-8_11.

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Gardner, Aaron, Sarah Stauffer, Lindsay Petley-Ragan, Philip Wismer, and Dewi Ayu Kencana Ungu. "Viral Gene Therapy." In Labster Virtual Lab Experiments: Genetics of Human Diseases, 57–73. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-58744-7_4.

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Mageed, Rizgar A., Taher E. Taher, and Ali S. Jawad. "Disease mechanisms, genetic susceptibility and therapeutic approaches in lupus disease." In Gene Therapy for Autoimmune and Inflammatory Diseases, 127–46. Basel: Springer Basel, 2010. http://dx.doi.org/10.1007/978-3-0346-0165-8_9.

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Kraemer, Liv, and Angela M. Christiano. "Basic Principles of Genetics and Gene Therapy." In Therapy of Skin Diseases, 39–55. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-540-78814-0_5.

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McIvor, R. Scott. "Gene Therapy for Genetic Disease and Cancer." In Animal Cell Technology: Basic & Applied Aspects, 7–12. Dordrecht: Springer Netherlands, 2002. http://dx.doi.org/10.1007/978-94-017-0728-2_2.

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Szmitko, Paul E., and Duncan J. Stewart. "Pulmonary Arterial Hypertension: Genetics and Gene Therapy." In Congenital Diseases in the Right Heart, 49–56. London: Springer London, 2009. http://dx.doi.org/10.1007/978-1-84800-378-1_6.

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Medin, Jeffrey A., Johan Richter, and Stefan Karlsson. "Clinical Applications of Gene Therapy: Correction of Genetic Disease Affecting Hematopoietic Cells." In Stem Cell Biology and Gene Therapy, 363–84. New York, USA: John Wiley & Sons, Inc., 2002. http://dx.doi.org/10.1002/0471223956.ch14.

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Coutelle, Charles. "Gene Therapy for Inherited Genetic Disease: Possibilities and Problems." In Targeting of Drugs 5, 1–13. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4615-6405-8_1.

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Wilson, J. M., and M. Grossman. "Liver-Directed Gene Therapy In the Treatment of Familial Hypercholesterolemia." In Genetic Approaches to Coronary Heart Disease and Hypertension, 152–56. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-642-76891-0_13.

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Conference papers on the topic "Gene therapy; Genetic diseases"

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Zhang, Xue-Qing, Mark Chen, Robert Lam, Xiaoyang Xu, Eiji Osawa, and Dean Ho. "A Platform Approach to Gene Delivery via Surface Modified Nanodiamonds." In ASME 2010 First Global Congress on NanoEngineering for Medicine and Biology. ASMEDC, 2010. http://dx.doi.org/10.1115/nemb2010-13340.

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The purpose of gene therapy is to introduce foreign genetic material into host cells to either supplement aberrant genes or to endow additional biological functions. To date, however, there has been only modest progress towards this goal, mainly due to the lack of safe, effective and broadly applicable delivery methods. Functional nanodiamonds (NDs) are rapidly emerging as promising platform carriers for next-generation therapeutics due to their innate biocompatibility, scalability, precise particle distribution, high surface area-to-volume ratio, near-spherical aspect ratio, and easily adaptable carbon surface for bioagent attachment. NDs have been functionalized with a range of therapeutics, proteins, antibodies, DNA, polymers, and other assorted biological agents. Furthermore, NDs are stable and dispersible in water, making them a promising and clinically important modality in improving the efficacy of the treatment of diseases and even some cancers at the molecular level. Mitochondrial function (MTT) and luminescent ATP production assays have demonstrated that NDs are not toxic to a wide variety of cell types. In this study, we functionalized NDs with amine groups via either covalent attachment of (3-aminopropyl) trimethoxysilane or surface immobilization of 800 Da low molecular weight polyethyleneimine (LMW PEI800) for plasmid DNA delivery. The latter delivery approach combines complementary characteristics of PEI800 and NDs to create a hybrid material that exhibits the high transfection efficiency of high molecular weight PEI, but without the inherent high cytotoxicity.
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Al-Mohannadi, Anjud Khamis, Sara Deola, and Ahmed Malki. "Visualization of Factor Viii with Flow-Cytometry as a tool for Novel Gene Therapy Approach in Hemophilia A." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0164.

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Haemophilia A is a genetic X-linked disorder, characterized by coagulation Factor VIII (FVIII) deficiency and leading to pathological bleedings. The disease occurs at a rate of 1 in 5000 males’ births. The treatment is the administration of plasma-derived or recombinant Factor VIII, which is expensive and leads to the development of inhibitory antibodies in around 40% of patients affected by the severe form of the disease. The disease becomes for these patients as life threatening. In new approaches to treat Haemophilia include gene therapy (GT), cells corrected through genetic modifications are used to produce in Haemophilia A patients FVIII protein in a sustained manner, as long-term treatment for this disorder. The cells of choice should be persistent and equipped with themachinery for large protein assembly and secretion. So far, target cells for Haemophilia gene correction are mostly liver cells, although they are highly immunogenic and exposed to immune-mediated destruction after GT. Based on literature evidences, bone marrow transplantation can correct Haemophilia A in mice, providing evidence that Hematopoietic stem cells (HSC) or their progeny are able to produce FVIII. We chose the approach of correcting HSC with lentiviral vectors carrying the FVIII gene cassette. Whereas classically FVIII protein is visualized on adherent cells through immunohistochemistry staining, flow-cytometry (FC) literature publications are very scarce. FC analysis is an attractive method for analysing hematopoietic cells, and in general, a versatile method for protein visualization. However, large proteins as FVIII are difficult to be carefully analysed, and the method requires several steps of optimization. This joint project with Dr. Muhammad Elnaggar, aims to optimize a method to characterize large proteins as FVIII with a reliable FC staining protocol. To this aim, we used cell lines to evaluate the expression and secretion pathways of FVIII, the intracellular requirements to fold and secrete large proteins, and the toxicities of protein accumulation, in case of GT mediated protein overexpression. For this purpose, the FC experiments were performed to optimise the FC protocol for FVIII visualization, by improving blocking efficacy, antibody-labelling efficacy and to ensure accuracy and validity through qPCR and FC double staining. This FC protocol proved its validity and usefulness in visualizing and studying functionally FVIII.
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Sadler, J. Evan. "THE MOLECULAR BIOLOGY OF VON WILLEBRAND FACTOR." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643930.

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Human von Willebrand factor (vWF) is a plasma glycoprotein that is synthesized by endothelial cells and megakaryocytes, and perhaps by syncytiotrophoblast of placenta. The biosynthesis of vWF is very complex, involving proteolytic processing, glycosyla-tion, disulfide bond formation, and sulfation. Mature vWF consists of a single subunit of ∼ 250,000 daltons that is assembled into multimer ranging from dimers to species of over 10 million daltons. vWF performs its essential hemostatic function through several binding interactions, forming a bridge between specific receptors on the platelet surface and components of damaged vascular subendothelial connective tissue. Inherited deficiency of vWF, or von Willebrand disease (vWD), is the most common genetically transmitted bleeding disorder worldwide. The last two years has been a time of very rapid progress in understanding the molecular biology of vWF. Four research groups have independently isolated and sequenced the 9 kilobase full-length vWF cDNA. The predicted protein sequence has provided a foundation for understanding the biosynthetic processing of vWF, and has clarified the relationship between vWF and a 75-100 kilodalton plasma protein of unknown function, von Willebrand antigen II (vWAgll)/ vWAgll is co-distributed with vWF in endothelial cells and platelets, and is deficient in patients with vWD. The cDNA sequence of vWF shows that vWAgll is a rather large pro-peptide for vWF, explaining the biochemical and genetic association between the two proteins. vWF has a complex evolutionary history marked by many separate gene segment duplications. The primary structure of the protein contains four distinct types of repeated domains present in two to four copies each. Repeated domains account for over 90 percent of the protein sequence. This sequence provides a framework for ordering the functional domains that have been defined by protein chemistry methods. A tryptic peptide from the amino-terminus of vWF that overlaps domain D3 binds to factor VIII and also appears to bind to heparin. Peptides that include domain A1 bind to collagens, to heparin, and to platelet glycoprotein Ib. A second collagen binding site appears to lie within domain A3. The vWF cDNA has been expressed in heterologous cells to produce small amounts of functionally and structurally normal vWF, indicating that endothelial cells are not unique in their ability to process and assemble vWF multimers. Site-directed mutagenesis has been used to show that deletion of the propeptide of vWF prevents the formation of multimers. Cloned cDNA probes have been employed to isolate vWF genomic DNA from cosmid and λ-phage libraries, and the size of the vWF gene appears to be ∼ 150 kilobases. The vWF locus has been localized to human chromosome 12p12—pter. Several intragenic RFLPs have been characterized. With them, vWF has been placed on the human genetic linkage map as the most telomeric marker currently available for the short arm of chromosome 12. A second apparently homologous locus has been identified on chromosome 22, but the relationship of this locus to the authentic vWF gene is not yet known. The mechanism of vWD has been studied by Southern blotting of genomic DNA with cDNA probes in a few patients. Three unrelated pedigrees have been shown to have total deletions of the vWF gene as the cause of severe vWD (type III). This form of gene deletion appears to predispose to the development of inhibitory alloantibodies to vWF during therapy with cryoprecipitate. During the next several years recombinant DNA methods will continue to contribute our understanding of the evolution, biosynthesis, and structure-function relationships of vWF, as well as the mechanism of additional variants of vWD at the level of gene structure.
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Hua, Lin, Zheng Yang, and Hong Liu. "A comparison between gene-gene sub networks associated with complex diseases and genetic loci-sets." In 2011 4th International Conference on Biomedical Engineering and Informatics (BMEI). IEEE, 2011. http://dx.doi.org/10.1109/bmei.2011.6098512.

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Bessis, N., V. Cottard, N. Saidenberg-Kermanach, and MC Boissier. "THU0124 Autologous fibroblasts as vectors for anti_inflammatory gene therapy in murine collagen-induced arthritis." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.1001.

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Padyukov, L., J. Lampa, M. Heimbürger, S. Ernestam, T. Cederholm, I. Lundkvist, P. Andersson, et al. "OP0064 Genetic markers for the efficacy of tnf blocking therapy of rheumatoid arthritis." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.97.

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Chiang, Li Mei, Chien Yueh Lee, Liang Chuan Lai, Mong Hsun Tsai, Tzu Pin Lu, and Eric Y. Chuang. "Abstract 3573: VariED: an integrated database of variants and gene expression profiles for genetic diseases." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-3573.

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Wang, Chao-Xue, Shi-Hong Guo, Chang-Hua Li, and Zhi-Je Li. "Application of Genetic Algorithm Based on Gene Therapy Theory for Distribution Network Reconfiguration." In 2008 Fourth International Conference on Natural Computation. IEEE, 2008. http://dx.doi.org/10.1109/icnc.2008.549.

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Daisy, A., and R. Porkodi. "Classification of Human Cancer Diseases Gene Expression Profiles using Genetic Algorithm by Integrating Protein Protein Interactions Along with Gene Expression Profiles." In 2018 International Conference on Current Trends towards Converging Technologies (ICCTCT). IEEE, 2018. http://dx.doi.org/10.1109/icctct.2018.8550878.

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Dudler, J., R. Salvi, N. Busso, V. Chobaz-Péclat, and A. So. "OP0033 Systemic adenovirus mediated gene therapy using a chimeric soluble il-1 receptor type ii ?igg protein reduces acute inflammation in antigen-induced arthritis." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.818.

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Reports on the topic "Gene therapy; Genetic diseases"

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Mohan, Subburaman. Molecular Genetic and Gene Therapy Studies of the Musculoskeletal System. Fort Belvoir, VA: Defense Technical Information Center, September 2009. http://dx.doi.org/10.21236/ada512941.

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Mohan, Subburaman. Molecular Genetic and Gene Therapy Studies of the Musculoskeletal System. Fort Belvoir, VA: Defense Technical Information Center, February 2007. http://dx.doi.org/10.21236/ada469196.

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Mohan, Subburaman. Molecular Genetic and Gene Therapy Studies of the Musculoskeletal System. Fort Belvoir, VA: Defense Technical Information Center, October 2005. http://dx.doi.org/10.21236/ada469369.

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