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Auswahl der wissenschaftlichen Literatur zum Thema „Dosage-sensitive genes“
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Zeitschriftenartikel zum Thema "Dosage-sensitive genes"
Reiter, Lawrence T., Tatsufumi Murakami, Laura E. Warner und James R. Lupski. „DNA rearrangements affecting dosage sensitive genes“. Mental Retardation and Developmental Disabilities Research Reviews 2, Nr. 3 (1996): 139–46. http://dx.doi.org/10.1002/(sici)1098-2779(1996)2:3<139::aid-mrdd4>3.0.co;2-n.
Der volle Inhalt der QuelleSapienza, Carmen. „Sex-linked dosage-sensitive modifiers as imprinting genes“. Development 108, Supplement (01.04.1990): 107–13. http://dx.doi.org/10.1242/dev.108.supplement.107.
Der volle Inhalt der QuelleZimmer, Fabian, Peter W. Harrison, Christophe Dessimoz und Judith E. Mank. „Compensation of Dosage-Sensitive Genes on the Chicken Z Chromosome“. Genome Biology and Evolution 8, Nr. 4 (April 2016): 1233–42. http://dx.doi.org/10.1093/gbe/evw075.
Der volle Inhalt der QuelleChang, Andrew Ying-Fei, und Ben-Yang Liao. „Reduced Translational Efficiency of Eukaryotic Genes after Duplication Events“. Molecular Biology and Evolution 37, Nr. 5 (06.01.2020): 1452–61. http://dx.doi.org/10.1093/molbev/msz309.
Der volle Inhalt der QuellePlenefisch, J. D., L. DeLong und B. J. Meyer. „Genes that implement the hermaphrodite mode of dosage compensation in Caenorhabditis elegans.“ Genetics 121, Nr. 1 (01.01.1989): 57–76. http://dx.doi.org/10.1093/genetics/121.1.57.
Der volle Inhalt der QuelleThompson, Ammon, Harold H. Zakon und Mark Kirkpatrick. „Compensatory Drift and the Evolutionary Dynamics of Dosage-Sensitive Duplicate Genes“. Genetics 202, Nr. 2 (12.12.2015): 765–74. http://dx.doi.org/10.1534/genetics.115.178137.
Der volle Inhalt der QuelleJaved, Sehrish, Tharushan Selliah, Yu-Ju Lee und Wei-Hsiang Huang. „Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy“. Neuroscience & Biobehavioral Reviews 118 (November 2020): 538–67. http://dx.doi.org/10.1016/j.neubiorev.2020.08.009.
Der volle Inhalt der QuelleRaznahan, 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, Nr. 28 (26.06.2018): 7398–403. http://dx.doi.org/10.1073/pnas.1802889115.
Der volle Inhalt der QuelleSmulders-Srinivasan, Tora K., und Haifan Lin. „Screens for piwi Suppressors in Drosophila Identify Dosage-Dependent Regulators of Germline Stem Cell Division“. Genetics 165, Nr. 4 (01.12.2003): 1971–91. http://dx.doi.org/10.1093/genetics/165.4.1971.
Der volle Inhalt der QuelleDuffy, Joseph B., James Wells und J. Peter Gergen. „Dosage-Sensitive Maternal Modifiers of the Drosophila Segmentation Gene runt“. Genetics 142, Nr. 3 (01.03.1996): 839–52. http://dx.doi.org/10.1093/genetics/142.3.839.
Der volle Inhalt der QuelleDissertationen zum Thema "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.
Der volle Inhalt der QuelleCataloged 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.
Der volle Inhalt der QuelleAhumada, Saavedra José Tomás. „Craniofacial analysis of Down syndrome rodent models“. Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ041.
Der volle Inhalt der QuelleThe 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
Buchteile zum Thema "Dosage-sensitive genes"
Stankiewicz, Paweł, und James R. Lupski. „The genomic basis of medicine“. In Oxford Textbook of Medicine, herausgegeben von John D. Firth, Christopher P. Conlon und Timothy M. Cox, 218–35. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0030.
Der volle Inhalt der QuelleTekin, Şaban, und 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.
Der volle Inhalt der QuelleVilain, Eric, und 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.
Der volle Inhalt der QuelleKonferenzberichte zum Thema "Dosage-sensitive genes"
Menelaos, Pipis, Won Seongsik, Poh Roy, Polke James, Skorupinska Mariola, Blake Julian, Rossor Alexander, Laura Matilde, Svaren John und 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.
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