Literatura científica selecionada sobre o tema "Dosage-sensitive genes"
Crie uma referência precisa em APA, MLA, Chicago, Harvard, e outros estilos
Consulte a lista de atuais artigos, livros, teses, anais de congressos e outras fontes científicas relevantes para o tema "Dosage-sensitive genes".
Ao lado de cada fonte na lista de referências, há um botão "Adicionar à bibliografia". Clique e geraremos automaticamente a citação bibliográfica do trabalho escolhido no estilo de citação de que você precisa: APA, MLA, Harvard, Chicago, Vancouver, etc.
Você também pode baixar o texto completo da publicação científica em formato .pdf e ler o resumo do trabalho online se estiver presente nos metadados.
Artigos de revistas sobre o assunto "Dosage-sensitive genes"
Reiter, Lawrence T., Tatsufumi Murakami, Laura E. Warner e James R. Lupski. "DNA rearrangements affecting dosage sensitive genes". Mental Retardation and Developmental Disabilities Research Reviews 2, n.º 3 (1996): 139–46. http://dx.doi.org/10.1002/(sici)1098-2779(1996)2:3<139::aid-mrdd4>3.0.co;2-n.
Texto completo da fonteSapienza, Carmen. "Sex-linked dosage-sensitive modifiers as imprinting genes". Development 108, Supplement (1 de abril de 1990): 107–13. http://dx.doi.org/10.1242/dev.108.supplement.107.
Texto completo da fonteZimmer, Fabian, Peter W. Harrison, Christophe Dessimoz e Judith E. Mank. "Compensation of Dosage-Sensitive Genes on the Chicken Z Chromosome". Genome Biology and Evolution 8, n.º 4 (abril de 2016): 1233–42. http://dx.doi.org/10.1093/gbe/evw075.
Texto completo da fonteChang, Andrew Ying-Fei, e Ben-Yang Liao. "Reduced Translational Efficiency of Eukaryotic Genes after Duplication Events". Molecular Biology and Evolution 37, n.º 5 (6 de janeiro de 2020): 1452–61. http://dx.doi.org/10.1093/molbev/msz309.
Texto completo da fontePlenefisch, J. D., L. DeLong e B. J. Meyer. "Genes that implement the hermaphrodite mode of dosage compensation in Caenorhabditis elegans." Genetics 121, n.º 1 (1 de janeiro de 1989): 57–76. http://dx.doi.org/10.1093/genetics/121.1.57.
Texto completo da fonteThompson, Ammon, Harold H. Zakon e Mark Kirkpatrick. "Compensatory Drift and the Evolutionary Dynamics of Dosage-Sensitive Duplicate Genes". Genetics 202, n.º 2 (12 de dezembro de 2015): 765–74. http://dx.doi.org/10.1534/genetics.115.178137.
Texto completo da fonteJaved, Sehrish, Tharushan Selliah, Yu-Ju Lee e Wei-Hsiang Huang. "Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy". Neuroscience & Biobehavioral Reviews 118 (novembro de 2020): 538–67. http://dx.doi.org/10.1016/j.neubiorev.2020.08.009.
Texto completo da fonteRaznahan, Armin, Neelroop N. Parikshak, Vijay Chandran, Jonathan D. Blumenthal, Liv S. Clasen, Aaron F. Alexander-Bloch, Andrew R. Zinn et al. "Sex-chromosome dosage effects on gene expression in humans". Proceedings of the National Academy of Sciences 115, n.º 28 (26 de junho de 2018): 7398–403. http://dx.doi.org/10.1073/pnas.1802889115.
Texto completo da fonteSmulders-Srinivasan, Tora K., e Haifan Lin. "Screens for piwi Suppressors in Drosophila Identify Dosage-Dependent Regulators of Germline Stem Cell Division". Genetics 165, n.º 4 (1 de dezembro de 2003): 1971–91. http://dx.doi.org/10.1093/genetics/165.4.1971.
Texto completo da fonteDuffy, Joseph B., James Wells e J. Peter Gergen. "Dosage-Sensitive Maternal Modifiers of the Drosophila Segmentation Gene runt". Genetics 142, n.º 3 (1 de março de 1996): 839–52. http://dx.doi.org/10.1093/genetics/142.3.839.
Texto completo da fonteTeses / dissertações sobre o assunto "Dosage-sensitive genes"
Bonney, Megan Ellis. "The role of dosage sensitive genes in aneuploid phenotypes". Thesis, Massachusetts Institute of Technology, 2016. http://hdl.handle.net/1721.1/103226.
Texto completo da fonteCataloged from PDF version of thesis.
Includes bibliographical references.
Aneuploidy-the gain or loss of one or more whole chromosomes-typically has an adverse impact on organismal fitness, manifest in conditions such as Down syndrome. A central question is whether aneuploid phenotypes are the consequence of copy number changes of a few especially harmful genes that may be present on the extra chromosome, or are caused by copy number alterations of many genes that confer no observable phenotype when varied individually. We used the proliferation defect exhibited by budding yeast strains carrying single additional chromosomes (disomes) to distinguish between the "few critical genes hypothesis" and the "mass action of genes hypothesis". Our results indicate that subtle changes in gene dosage across a chromosome can have significant phenotypic consequences. We conclude that phenotypic thresholds can be crossed by mass action of copy number changes that on their own are benign.
by Megan Ellis Bonney.
Ph. D.
Champion, Mia Daniele. "Identification of genes that are dosage-sensitive modifiers of nod phenotype and act to properly segregate achiasmate chromosomes /". Connect to Digital dissertations. Restricted to UC campuses. Access is free to UC campus dissertations, 2002. http://uclibs.org/PID/11984.
Texto completo da fonteAhumada, Saavedra José Tomás. "Craniofacial analysis of Down syndrome rodent models". Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ041.
Texto completo da fonteThe most frequent and distinctive alterations found in Down syndrome (DS) are learning disability and craniofacial (CF) dysmorphism. The CF phenotype includes reduced head dimensions, brachycephaly, reduced mediolateral orbital region, reduced bizygomatic breadth, small maxilla, small mandible, and increased individual variability. Until now, the cellular and molecular mechanisms underlying this CF phenotype remain unknown. This thesis, using a new panel of rats and mice models proposed new candidate genes for the DS-CF phenotype. We confirmed the role of Dyrk1a in neurocranium brachycephaly and identified the overdosage of the transcription factor Ripply3 for midface shortening through the downregulation of Tbx1, another transcription factor involved in similar phenotypes was found in Di George Syndrome. We defined new dosage-sensitive genes responsible for DS-CF malformations, and new models were proposed to rescue the DS-CF phenotype. This new knowledge may also lead to insights for specific brain and cardiovascular phenotypes observed in Tbx1 mutants and DS models
Capítulos de livros sobre o assunto "Dosage-sensitive genes"
Stankiewicz, Paweł, e James R. Lupski. "The genomic basis of medicine". In Oxford Textbook of Medicine, editado por John D. Firth, Christopher P. Conlon e Timothy M. Cox, 218–35. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0030.
Texto completo da fonteTekin, Şaban, e Birsen Cevher Keskin. "Moleküler Genetik Tanı Yöntemleri". In Moleküler Biyoloji ve Genetik, 135–60. Türkiye Bilimler Akademisi, 2023. http://dx.doi.org/10.53478/tuba.978-625-8352-48-1.ch05.
Texto completo da fonteVilain, Eric, e Edward R. B. Mccabe. "NR0B1 (DAX1) and X-linked Adrenal Hypoplasia Congenita and XY Sex Reversal". In Inborn Errors Of Development, 1513–23. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0177.
Texto completo da fonteTrabalhos de conferências sobre o assunto "Dosage-sensitive genes"
Menelaos, Pipis, Won Seongsik, Poh Roy, Polke James, Skorupinska Mariola, Blake Julian, Rossor Alexander, Laura Matilde, Svaren John e Reilly Mary. "Post-transcriptional microRNA repression of the dosage-sensitive PMP22 gene in severe demyelinating Charcot-Marie-Tooth disease". In Association of British Neurologists: Annual Meeting Abstracts 2023. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/jnnp-2023-abn.246.
Texto completo da fonte