Academic literature on the topic 'Genetic inactivation'

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Journal articles on the topic "Genetic inactivation"

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Lyon, MF. "X-chromosome inactivation and human genetic disease." Acta Paediatrica 91 (January 2, 2007): 107–12. http://dx.doi.org/10.1111/j.1651-2227.2002.tb03120.x.

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Wang, Jian, Robert Yu, and Sanjay Shete. "X-Chromosome Genetic Association Test Accounting for X-Inactivation, Skewed X-Inactivation, and Escape from X-Inactivation." Genetic Epidemiology 38, no. 6 (2014): 483–93. http://dx.doi.org/10.1002/gepi.21814.

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Anderson, Richard J. E., and Hamish G. Spencer. "Population Models of Genomic Imprinting. I. Differential Viability in the Sexes and the Analogy With Genetic Dominance." Genetics 153, no. 4 (1999): 1949–58. http://dx.doi.org/10.1093/genetics/153.4.1949.

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Abstract Many single-locus, two-allele selection models of genomic imprinting have been shown to reduce formally to one-locus Mendelian models with a modified parameter for genetic dominance. One exception is the model where selection at the imprinted locus affects the sexes differently. We present two models of maternal inactivation with differential viability in the sexes, one with complete inactivation, and the other with a partial penetrance for inactivation. We show that, provided dominance relations at the imprintable locus are the same in both sexes, a globally stable polymorphism exist
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Migeon, Barbara R. "X-chromosome inactivation: molecular mechanisms and genetic consequences." Trends in Genetics 10, no. 7 (1994): 230–35. http://dx.doi.org/10.1016/0168-9525(94)90169-4.

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Wert, Katherine J., Susanne F. Koch, Gabriel Velez, et al. "CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials." Human Mutation 40, no. 12 (2019): 2377–92. http://dx.doi.org/10.1002/humu.23894.

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Karlsson, Åsa, Sylvie Giuriato, Flora Tang, Jingly Fung-Weier, Göran Levan, and Dean W. Felsher. "Genomically complex lymphomas undergo sustained tumor regression upon MYC inactivation unless they acquire novel chromosomal translocations." Blood 101, no. 7 (2003): 2797–803. http://dx.doi.org/10.1182/blood-2002-10-3091.

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The targeted inactivation of oncogenes may be a specific and effective treatment for cancer. However, because human cancers are the consequence of multiple genetic changes, the inactivation of one oncogene may not be sufficient to cause sustained tumor regression. Moreover, cancers are genomically unstable and may readily compensate for the inactivation of a single oncogene. Here we confirm by spectral karyotypic analysis that MYC-induced hematopoietic tumors are highly genetically complex and genomically unstable. Nevertheless, the inactivation of MYC alone was found to be sufficient to induc
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Marshall, Catherine H., Eddie L. Imada, Zhuojun Tang, Luigi Marchionni, and Emmanuel S. Antonarakis. "CDK12 inactivation across solid tumors: an actionable genetic subtype." Oncoscience 6, no. 5-6 (2019): 312–16. http://dx.doi.org/10.18632/oncoscience.481.

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Lee, Jeannie T., and Rudolf Jaenisch. "The (epi)genetic control of mammalian X-chromosome inactivation." Current Opinion in Genetics & Development 7, no. 2 (1997): 274–80. http://dx.doi.org/10.1016/s0959-437x(97)80138-4.

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Dewey, Frederick E., Viktoria Gusarova, Richard L. Dunbar, et al. "Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease." New England Journal of Medicine 377, no. 3 (2017): 211–21. http://dx.doi.org/10.1056/nejmoa1612790.

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Handel, M. A., C. Park, and M. Kot. "Genetic control of sex-chromosome inactivation during male meiosis." Cytogenetic and Genome Research 66, no. 2 (1994): 83–88. http://dx.doi.org/10.1159/000133672.

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Dissertations / Theses on the topic "Genetic inactivation"

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Tam, Hok-nang Alex, and 譚學能. "Epigenetic inactivation of protocadherin PCDH10 in esophageal cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B45011011.

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Amos-Landgraf, James. "A HUMAN POPULATION STUDY OF THE GENETIC CONTROL OF X-INACTIVATION." Case Western Reserve University School of Graduate Studies / OhioLINK, 2005. http://rave.ohiolink.edu/etdc/view?acc_num=case1089861669.

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Inagaki(Kawata), Yukiko. "Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263544.

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Mui, Kin-cheong, and 梅堅祥. "Inactivation of DNA match repair proteins in premalignant lesions in Lynch syndrome." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B44659635.

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Brewer, Alexander R. "Genetic characteristics of pheochromocytomas an analysis of p16 tumor suppressor gene inactivation /." Connect to resource, 2006. http://hdl.handle.net/1811/6436.

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Thesis (Honors)--Ohio State University, 2006.<br>Title from first page of PDF file. Document formatted into pages: contains 26 p.; also includes graphics. Includes bibliographical references (p. 22-25). Available online via Ohio State University's Knowledge Bank.
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Takeda, Satoshi. "Genetic and epigenetic inactivation of tax gene in adult T-cell leukemia cell." Kyoto University, 2004. http://hdl.handle.net/2433/147464.

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Yamada, Chizumi. "Genetic inactivation of GIP signaling reverses aging-associated insulin resistance through body composition changes." Kyoto University, 2008. http://hdl.handle.net/2433/135794.

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Tung, Kwok-kwan, and 董國焜. "Epigenetic inactivation and tumor suppressive roles of hepatocyte growth factor activator inhibitors(HAIs) in human hepatocellularcarcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B3979376X.

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Clemson, Christine Moulton. "Structural Association of XIST RNA with Inactive Chromosomes in Somatic Cells : a Key Step in the Process that Establishes and Faithfully Maintains X-inactivation." eScholarship@UMMS, 1998. https://escholarship.umassmed.edu/gsbs_diss/8.

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The XIST gene is implicated in X-chromosome inactivation, yet the RNA contains no apparent open reading frame. An accumulation of XIST RNA is observed near its site of transcription, the inactive X chromosome (Xi). A series of molecular cytogenetic studies comparing properties of XIST RNA to other protein coding RNAs, support a critical distinction for XIST RNA; XIST RNA does not concentrate at Xi simply because it is transcribed and processed there. Most notably, morphometric and 3-D analysis reveals that XIST RNA and Xi are coincident in 2-D and 3-D space; hence the XIST RNA essentially pain
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Pickering, Mary Theresa. "Rb Inactivation Leads to E2F1-mediated DNA Double Strand Break Accumulation: A Dissertation." eScholarship@UMMS, 2006. https://escholarship.umassmed.edu/gsbs_diss/26.

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Although it is unclear which cellular factor(s) is responsible for the genetic instability associated with initiating and sustaining cell transformation, it is known that most, if not all, cancers have mutations that inactivate the Rb-mediated growth control pathway. We show here that acute inactivation of Rb by RNA interference or expression of the E7 viral oncoprotein from human papillomavirus (HPV), and the resultant deregulation of one E2F family member, E2F1, leads to DNA double strand break (DSB) accumulation. These DSBs occur independent of apoptosis induction, and activation of ATM, NB
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Books on the topic "Genetic inactivation"

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Females are mosaics: X inactivation and sex differences in disease. Oxford University Press, 2006.

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Migeon, Barbara. Females Are Mosaics: X Inactivation and Sex Differences in Disease. Oxford University Press, USA, 2007.

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Migeon, Barbara. Females Are Mosaics: X Inactivation and Sex Differences in Disease. Oxford University Press, 2013.

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Iversen, Leslie. Where Are We and Where Are We Going? Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190846848.003.0008.

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Cannabis research is flourishing despite the difficulties that scientists have in accessing high-quality cannabis. However, many questions remain: Can new medicines be discovered and developed based on the current knowledge of the biosynthesis, actions, and inactivation of endocannabinoids? Can genetic screening identify people who are particularly susceptible to cannabis use disorder and possibly to psychosis? Can researchers pinpoint in more detail how endocannabinoids modulate neural activity and how they change on exposure to stress? Scientific research will tackle all these questions and
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Leigh, R. John, and David S. Zee. The Neurology of Eye Movements. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199969289.001.0001.

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This new edition comprises a modern synthesis of the anatomical, physiological, and pharmacological substrate for eye movements, including current views on the reflexive and voluntary control of gaze. This synthesis is based on electrophysiological and inactivation studies in macaque, and behavioural studies in humans that incorporate functional imaging and transcranial magnetic stimulation (TMS) in normals, and clinicopathological studies in patients with neurological, visual, or vestibular disorders. Sophisticated experimental paradigms have been applied to both species to explore aspects of
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Dean, Michael, and Karobi Moitra. Biology of Neoplasia. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0002.

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The term “cancer” encompasses a large heterogeneous group of diseases that involve uncontrolled cell growth, division, and survival, culminating in local invasion and/or distant metastases. Cancer is fundamentally a genetic disease at the cellular level. Tumors occur because clones of abnormal cells acquire multiple lesions in DNA, nearly always involving mutations, chromosomal rearrangements, and extensive alteration of the epigenome. Up to 10% of cancers also involve inherited germline mutations that are moderately to highly penetrant. Cancers begin as localized growths or premalignant lesio
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Kanno, Hiroshi, and Joachim P. Steinbach. Familial tumour syndromes: von Hippel–Lindau disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0016.

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Von Hippel–Lindau (VHL) disease, an autosomal dominant familial tumour syndrome, is often associated with haemangioblastoma of the central nervous system. In the presence of oxygen, VHL protein serves to prevent the accumulation of hypoxia-inducible factor (HIF) protein by targeting it to the proteasomal pathway, while biallelic inactivation of the VHL gene blocks degradation of HIF and leads to constitutive activation of the HIF pathway although oxygen is present. HIF-target genes are involved in angiogenesis, proliferation, and metabolism enabling tumour growth. Haemangioblastoma is a highly
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Mouldy, Sioud, ed. siRNA and miRNA gene silencing: From bench to bedside. Humana Press, 2009.

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Book chapters on the topic "Genetic inactivation"

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Singer, M. J., and E. U. Selker. "Genetic and Epigenetic Inactivation of Repetitive Sequences in Neurospora crassa: RIP, DNA Methylation, and Quelling." In Current Topics in Microbiology and Immunology. Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-642-79145-1_11.

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Gartler, S. M. "X Chromosome Inactivation." In Human Genetics. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5_22.

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Moindrot, Benoit, and Neil Brockdorff. "Unbiased Genetic Screen to Identify Factors Involved in X-Chromosome Inactivation Using a Pooled Bar-Coded shRNA Library." In Methods in Molecular Biology. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8766-5_2.

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Al Nadaf, Shafagh, Paul D. Waters, Janine E. Deakin, and Jennifer A. Marshall Graves. "Marsupial Genetics Reveals Insights into Evolution of Mammalian X Chromosome Inactivation." In Marsupial Genetics and Genomics. Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-9023-2_13.

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Craig, Ian W. "Imprinting, Inactivation and the Behavioural Genetics of the X Chromosome." In Brain, Behavior and Epigenetics. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-17426-1_7.

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Tao, Lin. "Streptococcal integration vectors for gene inactivation and cloning." In Methods for studying the genetics, molecular biology, physiology, and pathogenesis of the streptococci. Springer Netherlands, 1998. http://dx.doi.org/10.1007/978-94-017-2258-2_6.

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Brown, Edward M. "Disorders Resulting from Inactivating or Activating Mutations in the Ca2+ 0-Sensing Receptor." In The Genetics of Osteoporosis and Metabolic Bone Disease. Humana Press, 2000. http://dx.doi.org/10.1007/978-1-59259-033-9_13.

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Gartler, Stanley M., Karen A. Dyer, and Michael A. Goldman. "Mammalian X Chromosome Inactivation." In Molecular Genetic Medicine. Elsevier, 1992. http://dx.doi.org/10.1016/b978-0-12-462002-5.50010-8.

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Menconi, Francesca, Terry F. Davies, and Yaron Tomer. "Genetic factors relating to the thyroid with emphasis on complex diseases." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.3084.

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The nucleus of each human cell encodes approximately 30 000 genes. A large fraction of the genes in each individual exist in a form that can vary between individuals. These variable genetic forms are termed polymorphisms, and they account for much of the normal variation in body traits, such as height and hair colour. The genetic information encoded in the DNA is stored on the chromosomes and each somatic cell contains 46 chromosomes (22 autosomes and two sex chromosomes), arranged in 23 pairs, one of each derived from each parent. Since each individual inherits two copies of each chromosome (for autosomes), one from each parent, there are also two copies of each gene. The chromosomal location of a gene is termed the locus of the gene. When the gene in a certain locus exists in two or more forms, these variants of the gene are termed alleles. When an individual’s two alleles at a locus are identical, that individual is said to be homozygous at that locus, and when the two alleles are different, the individual is a heterozygote. Female somatic cells contain two X chromosomes, whereas male somatic cells contain only one X chromosome. Nevertheless, the activity of genes coded for by the X chromosome is no higher in females than in males. This is due to inactivation of most of the genes on one of the two X chromosomes. Thus, in female somatic cells only one X chromosome gene is expressed, and this process of suppression is called X-chromosome inactivation. X-chromosome inactivation occurs early in embryonic life and, thereafter, in each cell either the maternal or paternal chromosome is inactivated. This results in a tissue mosaic of paternally and maternally expressed X-chromosomal alleles, with an average of 1:1 distribution. As a result, a female who is heterozygous for an X-linked gene will show a mosaic-like distribution of cells expressing either one of the two alleles. Recently X-inactivation has been postulated to play a role in autoimmune diseases and may help explain the female preponderance of autoimmune diseases (see below).
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Glick, David B., Gerald Glick, and Erica J. Stein. "The Autonomic Nervous System." In Oxford Textbook of Neuroscience and Anaesthesiology, edited by George A. Mashour and Kristin Engelhard. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780198746645.003.0005.

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This chapter on the autonomic nervous system (ANS) covers the neural anatomy of the sympathetic (SNS), parasympathetic (PNS), and enteric (ENS) nervous systems. The activation and inactivation as well as the interaction between the SNS and PNS are examined with specific attention to the receptor and secondary messenger systems associated with the SNS and PNS. It also describes in detail the upregulation and downregulation of the SNS and PNS. It examines both adrenergic (synthesis, storage, and release of norepinephrine) and cholinergic pharmacology (acetylcholine synthesis, storage and release, and inactivation) and also discusses the genetic contributors to autonomic function and dysfunction.
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Conference papers on the topic "Genetic inactivation"

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Cheung, Chartia Ching-Mei, Grace Tin-Yun Chung, Samantha Wei-Man Lun, Kwong-Wai Choy, Ka-Fai To, and Kwok-Wai Lo. "Abstract 2288: Genetic and epigenetic inactivation of miR-31 in EBV-associated nasopharyngeal carcinoma." In Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-2288.

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