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Autor | Bernadette Kalman, Emilia Vitale |
Titel | Structural Chromosomal Variations in Neurological Diseases |
Zeitschrift | The Neurologist |
Ausgabe | 15 |
Jahr | 2009 |
Nummer | 5 |
ISSN | 1074-7931/09/1505-0245 |
DOI | 10.1097/NRL.0b013e3181963cef |
URL | http://journals.lww.com/theneurologist/Abstract/2009/09000/Structural_Chromosomal_Variations_in_Neurological.3.aspx |
Literaturverz. |
no |
Fußnoten | no |
Fragmente | 2 |
[1.] Mmu/Fragment 088 12 - Diskussion Zuletzt bearbeitet: 2014-11-19 19:33:01 Singulus | Fragment, Gesichtet, Kalman and Vitale 2009, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop |
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The presence of a CNVs in a coding region usually correlates with changes in the abundance of corresponding transcripts. Absence or excess of the protein product of a dosage sensitive gene may influence cell differentiation or migration and tissue formation early during development. In addition, genomic rearrangements may also be associated with molecular mechanisms other than affecting transcript levels to influence gene dosage and expression. Such complex mechanisms include gene interruption, gene fusion, unmasking a recessive allele or silenced gene, and interruption of regulatory gene-gene and chromosomal interactions (Lupski and Stankiewicz 2005). Even before the completion of the Human Genome Project, the pathogenic significance of gene dosage was realized in several disorders of the central and peripheral nervous system.
44. Lupski JR & Stankiewicz P. 2005.Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49. |
The presence of a CNV in a coding region usually correlates with changes in the abundance of corresponding transcripts. Absence or excess of the protein product of a dosage sensitive gene may influence cell differentiation or migration and tissue formation early during development. [...]
In addition, genomic rearrangements may also be associated with molecular mechanisms other than affecting transcript levels to influence gene dosage and expression. Such complex mechanisms include gene interruption, gene fusion, unmasking a recessive allele or silenced gene, and interruption of regulatory gene-gene and chromosomal interactions.5 [...] [...] [...] Even before the completion of the Human Genome Project, the pathogenic significance of gene dosage was realized in several disorders of the central and peripheral nervous system (CNS, PNS). 5. Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron. 2006;52:103–121. |
The source is not mentioned. Lupski and Stankiewicz (2005) does not contain the parallel text. |
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[2.] Mmu/Fragment 089 16 - Diskussion Zuletzt bearbeitet: 2014-11-19 19:29:01 Singulus | Fragment, Gesichtet, Kalman and Vitale 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung |
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The highlighted examples demonstrate how gene dosage effects may influence the development of common disorders often characterized by heterogeneous genetic aetiology. | The highlighted examples demonstrate how gene dosage effects may influence cell function and development of common disorders often characterized by heterogeneous genetic etiology. |
The source is not mentioned. |
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