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Typus
KomplettPlagiat
Bearbeiter
Hindemith
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 88, Zeilen: 12-22
Quelle: Kalman and Vitale 2009
Seite(n): 247, Zeilen: l. col: 10 ff.
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.

Anmerkungen

The source is not mentioned. Lupski and Stankiewicz (2005) does not contain the parallel text.

Sichter
(Hindemith), SleepyHollow02

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